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Q18052462-P2293
P2293
Q18052462
CLECL1
Q7187
[ "C-type lectin like 1", "DCAL-1", "DCAL1" ]
[ "Q8277" ]
[ "multiple sclerosis" ]
[ "Q12136" ]
[ [ "MS", "disseminated sclerosis", "generalised multiple sclerosis", "generalized multiple sclerosis", "Generalized multiple sclerosis (disorder)", "insular sclerosis", "Multiple sclerosis; MS" ] ]
Q17815635-P2293
P2293
Q17815635
AP2A2
Q7187
[ "adaptor related protein complex 2 subunit alpha 2", "adaptor related protein complex 2 alpha 2 subunit", "ADTAB", "CLAPA2", "HIP-9", "HIP9", "HYPJ" ]
[ "Q11081" ]
[ "Alzheimer's disease" ]
[ "Q12136" ]
[ [ "AD", "Alzheimer dementia", "Alzheimer disease", "Alzheimer disease, familial", "Alzheimer's dementia", "Alzheimers dementia" ] ]
Q14914613-P2293
P2293
Q14914613
STAT6
Q7187
[ "D12S1644", "IL-4-STAT", "STAT6B", "STAT6C" ]
[ "Q2057356" ]
[ "eosinophilic esophagitis" ]
[ "Q12136" ]
[ [ "EoE" ] ]
Q18031020-P2293
P2293
Q18031020
RAD52
Q7187
[]
[ "Q47912" ]
[ "lung cancer" ]
[ "Q12136" ]
[ [ "malignant lung tumor", "malignant neoplasm of lung" ] ]
Q18031368-P2293
P2293
Q18031368
SAG
Q7187
[ "RP47", "S-antigen visual arrestin" ]
[ "Q7080278" ]
[ "Oguchi disease-1" ]
[ "Q12136" ]
[ [ "CSNBO1", "OGUCHI DISEASE 1", "Oguchi Disease type 1" ] ]
Q18049353-P2293
P2293
Q18049353
CLRN3
Q7187
[ "clarin 3", "TMEM12", "USH3AL1" ]
[ "Q11085" ]
[ "Parkinson's disease" ]
[ "Q12136" ]
[ [ "Parkinson disease", "paralysis agitans", "parkinsonismus idiopathicus" ] ]
Q18033533-P2293
P2293
Q18033533
BCL10
Q7187
[ "CARMEN", "CLAP", "B-cell CLL/lymphoma 10", "c-E10", "mE10", "B cell CLL/lymphoma 10", "BCL10 immune signaling adaptor", "CIPER", "BCL10, immune signaling adaptor", "IMD37" ]
[ "Q591256" ]
[ "MALT lymphoma" ]
[ "Q12136" ]
[ [ "extranodal marginal zone B cell lymphoma", "Gastric Lymphoma, Primary", "Immunocytoma", "MALT lymphoma, HL", "MALT-lymphoma", "MALToma" ] ]
Q18033732-P2293
P2293
Q18033732
TAF1C
Q7187
[ "SL1", "TAFI95", "TAFI110" ]
[ "Q38404" ]
[ "autism" ]
[ "Q12136" ]
[ [ "adult autism", "autistic disorder", "autistic disorder of childhood onset", "childhood autism", "classic autism", "early childhood autism", "early infantile autism", "infantile autism" ] ]
Q18036562-P2293
P2293
Q18036562
ZHX2
Q7187
[ "RAF", "AFR1", "zinc fingers and homeoboxes 2" ]
[ "Q12214" ]
[ "smallpox" ]
[ "Q12136" ]
[ [ "ordinary smallpox", "variola", "variola vera" ] ]
Q18031694-P2293
P2293
Q18031694
SPTBN1
Q7187
[ "ELF", "SPTB2", "betaSpII", "HEL102" ]
[ "Q168403" ]
[ "myopia" ]
[ "Q12136" ]
[ [ "near vision", "near-sightedness", "short-sightedness" ] ]
Q18040132-P2293
P2293
Q18040132
TMEM216
Q7187
[ "transmembrane protein 216", "HSPC244" ]
[ "Q32145701", "Q50349681" ]
[ "Joubert syndrome 2", "Meckel syndrome 2" ]
[ "Q12136", "Q12136" ]
[ [ "cerebellooculorenal syndrome 2", "CORS2", "JBTS2", "Joubert Syndrome type 2" ], [ "Meckel syndrome type 2", "MKS2" ] ]
Q18047712-P2293
P2293
Q18047712
FAM126A
Q7187
[ "HCC", "family with sequence similarity 126 member A", "DRCTNNB1A", "HLD5", "HYCC1" ]
[ "Q520127" ]
[ "periodontitis" ]
[ "Q12136" ]
[ [ "chronic pericementitis", "periodontium inflammation", "periodontiumitis", "pyorrhea" ] ]
Q18050688-P2293
P2293
Q18050688
NDUFAF6
Q7187
[ "C8orf38" ]
[ "Q11081" ]
[ "Alzheimer's disease" ]
[ "Q12136" ]
[ [ "AD", "Alzheimer dementia", "Alzheimer disease", "Alzheimer disease, familial", "Alzheimer's dementia", "Alzheimers dementia" ] ]
Q18032358-P2293
P2293
Q18032358
WNT1
Q7187
[ "Wnt family member 1", "INT1", "BMND16", "OI15" ]
[ "Q165328" ]
[ "osteoporosis" ]
[ "Q12136" ]
[ [ "bone loss" ] ]
Q14914243-P2293
P2293
Q14914243
PSAP
Q7187
[ "GLBA", "prosaposin", "SAP1", "SAP2" ]
[ "Q35869" ]
[ "asthma" ]
[ "Q12136" ]
[ [ "exercise-induced asthma", "Exercise induced asthma", "asthma brionchiole", "bronchial hyperreactivity", "chronic obstructive asthma" ] ]
Q18060531-P2293
P2293
Q18060531
CASTOR1
Q7187
[ "GATSL3", "GATS protein like 3" ]
[ "Q187255" ]
[ "rheumatoid arthritis" ]
[ "Q12136" ]
[ [ "atrophic Arthritis", "Malignant rheumatoid arthritis" ] ]
Q18046952-P2293
P2293
Q18046952
OR4A15
Q7187
[ "OR11-118" ]
[ "Q1485" ]
[ "systemic lupus erythematosus" ]
[ "Q12136" ]
[ [ "SLE", "Lupus Erythematosus, systemic" ] ]
Q18035395-P2293
P2293
Q18035395
TOMM40
Q7187
[ "TOM40", "translocase of outer mitochondrial membrane 40", "C19orf1", "D19S1177E", "PER-EC1", "PEREC1" ]
[ "Q11081", "Q389735", "Q830308" ]
[ "Alzheimer's disease", "cardiovascular disease", "age related macular degeneration" ]
[ "Q12136", "Q12136", "Q12136" ]
[ [ "AD", "Alzheimer dementia", "Alzheimer disease", "Alzheimer disease, familial", "Alzheimer's dementia", "Alzheimers dementia" ], [ "Cardiovascular Diseases", "dvd", "cardiovascular system disease", "cardiovascular system scpestatua", "CV disease", "disease of subdivision of hemolymphoid system", "wats" ], [ "AMD", "Age Related Maculopathies", "Age Related Maculopathy", "age-related macular degeneration", "senile macular degeneration" ] ]
Q15327611-P2293
P2293
Q15327611
TRPM7
Q7187
[ "CHAK", "LTrpC-7", "ALSPDC", "CHAK1", "LTRPC7", "TRP-PLIK" ]
[ "Q3508653" ]
[ "Lytico-bodig disease" ]
[ "Q12136" ]
[ [ "ALS-PDC", "Guam Disease", "Lytigo-Bodig disease", "Parkinsonism-dementia-ALS complex", "PDALS" ] ]
Q12242652-P2293
P2293
Q12242652
PTPRC
Q7187
[ "GP180", "LCA", "L-CA", "T200", "B220", "CD45R", "CD45", "LY5" ]
[ "Q1477" ]
[ "ulcerative colitis" ]
[ "Q12136" ]
[ [ "UC", "Colitis Ulcerative", "hemorrhagic colitis", "left-sided ulcerative colitis" ] ]
Q18030342-P2293
P2293
Q18030342
PAK3
Q7187
[ "beta-PAK", "ARA", "bPAK", "hPAK3", "MRX30", "MRX47", "OPHN3", "PAK3beta", "CDKN1A", "p21 (RAC1) activated kinase 3" ]
[ "Q8041560" ]
[ "X-linked intellectual disability" ]
[ "Q12136" ]
[ [ "Mental Retardation, X-Linked", "syndromic X-linked intellectual disability" ] ]
Q18033617-P2293
P2293
Q18033617
RPS6KA4
Q7187
[ "MSK2", "ribosomal protein S6 kinase A4", "RSK-B", "S6K-alpha-4" ]
[ "Q36956", "Q1072420" ]
[ "leprosy", "primary biliary cirrhosis" ]
[ "Q12136", "Q12136" ]
[ [ "Hansen's disease", "Hansen's disease, Leprosy", "lepras" ], [ "PBC", "biliary liver cirrhosis", "cholestatic cirrhosis", "primary biliary cholangitis", "Primary biliary cholangitis" ] ]
Q18043114-P2293
P2293
Q18043114
PCDH19
Q7187
[ "protocadherin 19", "EFMR", "EIEE9" ]
[ "Q41571" ]
[ "epilepsy" ]
[ "Q12136" ]
[ [ "caducus morbus", "epilepsy syndrome", "epileptic syndrome", "epileptiform", "morbus comitialis", "Saint Valentine's malady" ] ]
Q18039760-P2293
P2293
Q18039760
BICRA
Q7187
[ "GLTSCR1" ]
[ "Q18556697" ]
[ "human immunodeficiency virus infectious disease" ]
[ "Q12136" ]
[ [ "HIV infection", "HIV-positive", "HIV+" ] ]
Q18049153-P2293
P2293
Q18049153
FCRL3
Q7187
[ "CD307c", "Fc receptor like 3", "FCRH3", "IFGP3", "IRTA3", "SPAP2" ]
[ "Q8277", "Q16483", "Q124407", "Q50357588" ]
[ "multiple sclerosis", "toxic diffuse goiter", "type-1 diabetes", "Graves' disease" ]
[ "Q12136", "Q12136", "Q12136", "Q12136" ]
[ [ "MS", "disseminated sclerosis", "generalised multiple sclerosis", "generalized multiple sclerosis", "Generalized multiple sclerosis (disorder)", "insular sclerosis", "Multiple sclerosis; MS" ], [ "Basedow's disease", "exophthalmic goiter", "Grave's disease", "Graves disease", "Graves' disease" ], [ "T1DM", "diabetes (type 1)", "diabetes mellitus juvenile type", "Diabetes Mellitus, Type 1", "IDDM", "insulin dependent diabetes", "insulin-dependent diabetes mellitus", "juvenile diabetes", "Juvenile-Onset Diabetes", "type 1 diabetes mellitus", "type I diabetes mellitus" ], [ "Basedow's disease", "exophthalmic goiter" ] ]
Q17913983-P2293
P2293
Q17913983
COCH
Q7187
[ "cochlin", "DFNA9", "COCH-5B2", "COCH5B2", "DFNB110" ]
[ "Q9079046" ]
[ "nonsyndromic deafness" ]
[ "Q12136" ]
[ [ "Familial deafness", "Isolated genetic deafness", "Non-syndromic genetic deafness", "nonsyndromic hearing loss", "nonsyndromic hereditary hearing loss" ] ]
Q18035921-P2293
P2293
Q18035921
RAB10
Q7187
[]
[ "Q12214" ]
[ "smallpox" ]
[ "Q12136" ]
[ [ "ordinary smallpox", "variola", "variola vera" ] ]
Q425485-P2293
P2293
Q425485
CPS1
Q7187
[ "PHN", "carbamoyl-phosphate synthase 1", "CPSASE1" ]
[ "Q1054718" ]
[ "kidney disease" ]
[ "Q12136" ]
[ [ "renal disease", "disease of kidney", "disorder of kidney", "kidney damage", "kidney diseases", "kidney injury", "kidney necrosis", "nephron damage", "nephropathy" ] ]
Q18031325-P2293
P2293
Q18031325
RREB1
Q7187
[ "Zep-1", "ras responsive element binding protein 1", "HNT", "FINB", "LZ321" ]
[ "Q8277", "Q830308" ]
[ "multiple sclerosis", "age related macular degeneration" ]
[ "Q12136", "Q12136" ]
[ [ "MS", "disseminated sclerosis", "generalised multiple sclerosis", "generalized multiple sclerosis", "Generalized multiple sclerosis (disorder)", "insular sclerosis", "Multiple sclerosis; MS" ], [ "AMD", "Age Related Maculopathies", "Age Related Maculopathy", "age-related macular degeneration", "senile macular degeneration" ] ]
Q18054103-P2293
P2293
Q18054103
OTOGL
Q7187
[ "otogelin like", "C12orf64", "DFNB84B" ]
[ "Q9079046" ]
[ "nonsyndromic deafness" ]
[ "Q12136" ]
[ [ "Familial deafness", "Isolated genetic deafness", "Non-syndromic genetic deafness", "nonsyndromic hearing loss", "nonsyndromic hereditary hearing loss" ] ]
Q18030185-P2293
P2293
Q18030185
NOTCH4
Q7187
[ "INT3", "notch 4", "notch receptor 4" ]
[ "Q35869", "Q41112", "Q830308", "Q5340515" ]
[ "asthma", "schizophrenia", "age related macular degeneration", "systemic scleroderma" ]
[ "Q12136", "Q12136", "Q12136", "Q12136" ]
[ [ "exercise-induced asthma", "Exercise induced asthma", "asthma brionchiole", "bronchial hyperreactivity", "chronic obstructive asthma" ], [ "schizophrenia-1", "dementia praecox", "Kraepelin-Morel disease", "Morel-Kraepelin disease" ], [ "AMD", "Age Related Maculopathies", "Age Related Maculopathy", "age-related macular degeneration", "senile macular degeneration" ], [ "Diffuse Scleroderma", "Diffuse Sclerosis", "progressive systemic sclerosis", "Progressive systemic sclerosis", "PSS", "PSS (progressive systemic sclerosis)", "Scleroderma syndrome", "Scleroderma, Diffuse", "scleroderma, systemic", "Scleroderma, Systemic", "SSc", "SSc, Diffuse Sclerosis", "systemic sclerosis", "Systemic Sclerosis" ] ]
Q18045774-P2293
P2293
Q18045774
FBXL17
Q7187
[ "FBXO13", "Fbl17", "Fbx13" ]
[ "Q131755" ]
[ "bipolar disorder" ]
[ "Q12136" ]
[ [ "BP", "depressione bipolare", "depressione maniacale", "disturbo affettivo bipolare", "disturbo bipolare maniacale I.", "disturbo bipolare misto", "disturbo maniacale", "disturbo maniaco-depressivo", "follia circolare", "ipomania mania", "malattia bipolare", "malattia maniaco-depressiva", "mania ipomania", "psicosi maniaco-depressiva" ] ]
Q18031655-P2293
P2293
Q18031655
SOX10
Q7187
[ "DOM", "WS4C", "SRY-box transcription factor 10", "PCWH", "SRY-box 10", "WS2E", "WS4" ]
[ "Q30989286" ]
[ "PCWH syndrome" ]
[ "Q12136" ]
[ [ "WS4 plus" ] ]
Q18034530-P2293
P2293
Q18034530
PPM1F
Q7187
[ "CAMKP", "CaMKPase", "FEM-2", "hFEM-2", "POPX2" ]
[ "Q181923" ]
[ "attention deficit hyperactivity disorder" ]
[ "Q12136" ]
[ [ "ADD", "ADHD", "AD/HD", "hyperkinetic disorder", "A.D.H.D", "ADDH", "attention deficit disorder", "attention deficit hyperactivity syndrome", "attention deficit syndrome", "attention deficit/hyperactivity disorder" ] ]
Q18032648-P2293
P2293
Q18032648
SLMAP
Q7187
[ "SLAP", "sarcolemma associated protein" ]
[ "Q12174" ]
[ "obesity" ]
[ "Q12136" ]
[ [ "overweight", "corpulence", "fatness", "over-weight", "overfatness" ] ]
Q18045650-P2293
P2293
Q18045650
ZMAT3
Q7187
[ "PAG608", "WIG-1", "WIG1", "zinc finger matrin-type 3" ]
[ "Q202387" ]
[ "post-traumatic stress disorder" ]
[ "Q12136" ]
[ [ "PTSD", "battle fatigue", "post traumatic stress disorder", "shell shock", "shellshock", "thousand-mile stare", "traumatic neurosis" ] ]
Q18052474-P2293
P2293
Q18052474
CCDC60
Q7187
[ "coiled-coil domain containing 60" ]
[ "Q41112" ]
[ "schizophrenia" ]
[ "Q12136" ]
[ [ "schizophrenia-1", "dementia praecox", "Kraepelin-Morel disease", "Morel-Kraepelin disease" ] ]
Q17928815-P2293
P2293
Q17928815
FLNA
Q7187
[ "MNS", "ABP-280", "CSBS", "FMD", "CVD1", "XMVD", "ABPX", "FGS2", "filamin A", "FLN1", "NHBP", "OPD", "OPD1", "OPD2", "XLVD" ]
[ "Q18553263" ]
[ "periventricular nodular heterotopia" ]
[ "Q12136" ]
[ [ "periventricular heterotopia", "PVNH" ] ]
Q18034356-P2293
P2293
Q18034356
BAG3
Q7187
[ "BAG cochaperone 3", "BIS", "BCL2 associated athanogene 3", "MFM6", "CAIR-1" ]
[ "Q283656", "Q23893414", "Q28024572" ]
[ "dilated cardiomyopathy", "myofibrillar myopathy", "dilated cardiomyopathy 1HH" ]
[ "Q12136", "Q12136", "Q12136" ]
[ [ "DCM", "Familial dilated cardiomyopathy", "Congestive cardiomyopathy", "Idiopathic dilation cardiomyopathy", "primary dilated cardiomyopathy" ], [ "Myofibrillar Myopathies" ], [ "CMD1HH" ] ]
Q18053462-P2293
P2293
Q18053462
REEP3
Q7187
[ "receptor accessory protein 3", "C10orf74", "Yip2b" ]
[ "Q861224" ]
[ "juvenile rheumatoid arthritis" ]
[ "Q12136" ]
[ [ "acute juvenile rheumatoid arthritis", "chronic childhood arthritis", "juvenile chronic polyarthritis", "juvenile idiopathic arthritis", "pauciarticular juvenile arthritis", "systemic juvenile rheumatoid arthritis" ] ]
Q18045465-P2293
P2293
Q18045465
ZFAND3
Q7187
[ "zinc finger AN1-type containing 3", "TEX27" ]
[ "Q3025883" ]
[ "type 2 diabetes" ]
[ "Q12136" ]
[ [ "Diabetes mellitus type 2", "diabetes (type 2)", "Diabetes Mellitus, Type 2", "NIDDM", "non-insulin-dependent diabetes mellitus", "Rare insulin-independent diabetes mellitus", "type 2 diabetes mellitus", "type II diabetes mellitus" ] ]
Q14884140-P2293
P2293
Q14884140
HRAS
Q7187
[ "c-K-ras", "c-Ki-ras", "Ki-Ras", "KRAS", "HRAS1", "p21ras", "HAMSV", "C-BAS/HAS", "C-H-RAS", "C-HA-RAS1", "CTLO", "H-RASIDX", "KRAS2", "RASH1", "RASK2" ]
[ "Q504775", "Q1136492", "Q1274018", "Q5464665" ]
[ "bladder cancer", "Costello syndrome", "Schimmelpenning syndrome", "follicular thyroid cancer" ]
[ "Q12136", "Q12136", "Q12136", "Q12136" ]
[ [ "cancer of urinary bladder", "Malignant Bladder Neoplasm", "Malignant Bladder Tumor", "Malignant Neoplasm of Bladder", "Malignant Neoplasm, Bladder", "Malignant Tumor of Bladder", "Malignant Tumor of the Bladder", "Malignant Urinary Bladder Tumor", "tumor of the bladder", "urinary bladder cancer", "Urinary Bladder Malignant Tumor" ], [ "CSTLO", "FCS SYNDROME" ], [ "Epidermal Nevus Syndrome", "Feuerstein-Mims syndrome", "JNP", "Linear nevus sebaceous syndrome", "Nevus sebaceus syndrome", "Organoid Nevus Phakomatosis", "Organoid nevus syndrome", "sebaceous nevus syndrome", "Sebaceous nevus syndrome linear", "SFM", "SFM syndrome", "Solomon syndrome" ], [ "Adenocarcinoma, Follicular", "Follicular adenocarcinoma", "Follicular carcinoma", "follicular thyroid carcinoma", "NMTC2", "thyroid adenocarcinoma", "thyroid gland follicular carcinoma" ] ]
Q18032264-P2293
P2293
Q18032264
UBE2L3
Q7187
[ "UbcM4", "E2-F1", "UBCH7", "L-UBC" ]
[ "Q1485", "Q6853" ]
[ "systemic lupus erythematosus", "hepatitis B" ]
[ "Q12136", "Q12136" ]
[ [ "SLE", "Lupus Erythematosus, systemic" ], [ "hepatitis B infection", "hepatitis type B", "serum hepatitis", "Viral Hepatitis B" ] ]
Q17709208-P2293
P2293
Q17709208
ACO1
Q7187
[ "IRP1", "aconitase 1", "IREBP", "ACONS", "HEL60", "IREB1", "IREBP1" ]
[ "Q35869" ]
[ "asthma" ]
[ "Q12136" ]
[ [ "exercise-induced asthma", "Exercise induced asthma", "asthma brionchiole", "bronchial hyperreactivity", "chronic obstructive asthma" ] ]
Q18041965-P2293
P2293
Q18041965
PACS1
Q7187
[ "SHMS", "MRD17" ]
[ "Q9051491" ]
[ "morbid obesity" ]
[ "Q12136" ]
[ [ "Morbid obesity (disorder)", "Obesity, Morbid", "Severe obesity" ] ]
Q18032813-P2293
P2293
Q18032813
BAP1
Q7187
[ "BRCA1 associated protein 1", "HUCEP-13", "hucep-6", "UCHL2" ]
[ "Q356372", "Q55784304" ]
[ "uveal melanoma", "BAP1-related tumor predisposition syndrome" ]
[ "Q12136", "Q12136" ]
[ [ "melanoma of uvea", "MELANOMA, UVEAL" ], [ "TPDS" ] ]
Q18035074-P2293
P2293
Q18035074
ABI2
Q7187
[ "AIP-1", "AIP1", "ABI2B", "abl interactor 2", "abl-interactor 2", "AblBP3", "argBP1", "argBPIA", "argBPIB", "SSH3BP2" ]
[ "Q12252367" ]
[ "atherosclerosis" ]
[ "Q12136" ]
[ [ "ASVD", "arteriosclerotic vascular disease" ] ]
Q18037233-P2293
P2293
Q18037233
SLC39A14
Q7187
[ "solute carrier family 39 member 14", "ZIP14", "LZT-Hs4", "cig19", "HCIN", "HMNDYT2", "NET34" ]
[ "Q55781050" ]
[ "hyperostosis cranialis interna" ]
[ "Q12136" ]
[ [] ]
Q15996648-P2293
P2293
Q15996648
GNPTG
Q7187
[ "C16orf27", "GNPTAG", "LP2537", "RJD9" ]
[ "Q55998675" ]
[ "mucolipidosis type III gamma" ]
[ "Q12136" ]
[ [ "Ml 3 Gamma", "Ml 3C", "ML III gamma", "Mucolipidosis 3C", "Mucolipidosis type 3 gamma" ] ]
Q14878192-P2293
P2293
Q14878192
CETP
Q7187
[ "BPIFF", "cholesteryl ester transfer protein", "HDLCQ10" ]
[ "Q830308", "Q1476525", "Q2351083" ]
[ "age related macular degeneration", "lipid metabolism disorder", "metabolic disease" ]
[ "Q12136", "Q12136", "Q12136" ]
[ [ "AMD", "Age Related Maculopathies", "Age Related Maculopathy", "age-related macular degeneration", "senile macular degeneration" ], [ "dyslipidemia", "fatty acid metabolism disorder", "lipid metabolism disorders" ], [ "metabolic disorder", "disease of metabolism", "disorder of metabolic process", "metabolic diseases", "metabolic illness" ] ]
Q18049115-P2293
P2293
Q18049115
C1QTNF7
Q7187
[ "C1q and TNF related 7", "CTRP7", "ZACRP7" ]
[ "Q596474" ]
[ "conduct disorder" ]
[ "Q12136" ]
[ [ "disruptive behavior disorder" ] ]
Q18042210-P2293
P2293
Q18042210
BARX1
Q7187
[ "BARX homeobox 1" ]
[ "Q808892" ]
[ "Barrett's esophagus" ]
[ "Q12136" ]
[ [ "Barrett esophagus", "Barrett's oesophagus", "CLE", "Barrett's ulcer of esophagus", "Barretts syndrome", "ulcerative esophagitis" ] ]
Q14907631-P2293
P2293
Q14907631
GHR
Q7187
[ "GHBP", "growth hormone receptor", "GHIP" ]
[ "Q669822" ]
[ "Laron syndrome" ]
[ "Q12136" ]
[ [ "Complete growth hormone insensitivity", "GH receptor deficiency", "Growth Hormone Receptor Deficiency", "Laron-type dwarfism", "Pituitary Dwarfism 2", "Primary GH insensitivity", "Primary GH resistance", "Primary growth hormone insensitivity", "Primary growth hormone resistance", "Short stature due to growth hormone resistance" ] ]
Q18036665-P2293
P2293
Q18036665
MYO16
Q7187
[ "MYAP3", "Myo16b", "myosin XVI", "MYR8", "NYAP3", "PPP1R107" ]
[ "Q11081", "Q12174", "Q133772" ]
[ "Alzheimer's disease", "obesity", "dental caries" ]
[ "Q12136", "Q12136", "Q12136" ]
[ [ "AD", "Alzheimer dementia", "Alzheimer disease", "Alzheimer disease, familial", "Alzheimer's dementia", "Alzheimers dementia" ], [ "overweight", "corpulence", "fatness", "over-weight", "overfatness" ], [ "cavities", "dental caries extending into pulp", "dental caries of smooth surface", "dental caries pit and fissure", "tooth decay" ] ]
Q18036536-P2293
P2293
Q18036536
ANKRD26
Q7187
[ "ankyrin repeat domain 26", "bA145E8.1", "THC2" ]
[ "Q105045715" ]
[ "thrombocytopenia 2" ]
[ "Q12136" ]
[ [] ]
Q14865565-P2293
P2293
Q14865565
EGFR
Q7187
[ "epidermal growth factor receptor", "HER1", "ERBB1", "NISBD2", "ERBB", "Genes, erbB-1", "mENA", "PIG61" ]
[ "Q1365309", "Q3658562" ]
[ "glioma", "non-small-cell lung carcinoma" ]
[ "Q12136", "Q12136" ]
[ [ "glial cell tumor", "glioma, malignant", "gliomas", "malignant glioma", "malignant glioma - category", "malignant neuroglial tumor", "neuroglial tumor" ], [ "NSCLC", "Non-small cell lung cancer", "lung non-small cell carcinoma", "Non Small Cell Lung Cancer NOS", "Non-Small Cell Cancer of Lung", "Non-Small Cell Cancer of the Lung", "Non-Small Cell Carcinoma of Lung", "Non-small cell lung cancer (disorder)", "Non-small cell lung cancer, NOS", "non-small cell lung carcinoma" ] ]
Q18053973-P2293
P2293
Q18053973
HS6ST3
Q7187
[]
[ "Q12174", "Q631361" ]
[ "obesity", "diabetic retinopathy" ]
[ "Q12136", "Q12136" ]
[ [ "overweight", "corpulence", "fatness", "over-weight", "overfatness" ], [ "diabetic eye disease", "diabetic oculopathy", "retinal abnormality - diabetes-related" ] ]
Q18031082-P2293
P2293
Q18031082
RDX
Q7187
[ "radixin", "DFNB24" ]
[ "Q9079046" ]
[ "nonsyndromic deafness" ]
[ "Q12136" ]
[ [ "Familial deafness", "Isolated genetic deafness", "Non-syndromic genetic deafness", "nonsyndromic hearing loss", "nonsyndromic hereditary hearing loss" ] ]
Q18035844-P2293
P2293
Q18035844
SEPTIN9
Q7187
[ "septin 9", "SEPT9", "MSF", "NAPB", "MSF1", "PNUTL4", "AF17q25", "SeptD1", "SINT1" ]
[ "Q18553855" ]
[ "amyotrophic neuralgia" ]
[ "Q12136" ]
[ [ "HNA", "neuralgic amyotrophy", "neuralgic amyotrophy (disorder)" ] ]
Q18042081-P2293
P2293
Q18042081
RNF130
Q7187
[ "GP", "GOLIATH", "G1RZFP", "ring finger protein 130" ]
[ "Q844935" ]
[ "coronary artery disease" ]
[ "Q12136" ]
[ [ "CAD", "CHD", "ischemic heart disease", "coronary heart disease", "IHD", "atherosclerosis of coronary artery", "atherosclerotic cardiovascular disease", "atherosclerotic heart disease", "CHD (coronary heart disease)", "coronary arteriosclerosis", "Coronary Atherosclerosis" ] ]
Q18040560-P2293
P2293
Q18040560
ATP8A2
Q7187
[ "IB", "ML-1", "CAMRQ4", "ATPIB" ]
[ "Q373822" ]
[ "eating disorder" ]
[ "Q12136" ]
[ [ "ED", "feeding and eating disorders", "feeding disorder" ] ]
Q18028065-P2293
P2293
Q18028065
ITPA
Q7187
[ "NTPase", "inosine triphosphatase", "ITPase", "C20orf37", "dJ794I6.3", "HLC14-06-P", "My049" ]
[ "Q154869", "Q54361681" ]
[ "hepatitis C", "inosine triphosphatase deficiency" ]
[ "Q12136", "Q12136" ]
[ [ "Viral hepatitis C", "chronic hepatitis C", "hep C", "hepatitis C infection", "hepatitis nonA nonB", "hepatitis type C", "NANBH", "Non-A, Non-B Hepatitis" ], [] ]
Q18026375-P2293
P2293
Q18026375
GPR19
Q7187
[ "G protein-coupled receptor 19" ]
[ "Q1485" ]
[ "systemic lupus erythematosus" ]
[ "Q12136" ]
[ [ "SLE", "Lupus Erythematosus, systemic" ] ]
Q18031961-P2293
P2293
Q18031961
TFDP2
Q7187
[ "transcription factor Dp-2" ]
[ "Q1054718" ]
[ "kidney disease" ]
[ "Q12136" ]
[ [ "renal disease", "disease of kidney", "disorder of kidney", "kidney damage", "kidney diseases", "kidney injury", "kidney necrosis", "nephron damage", "nephropathy" ] ]
Q14883734-P2293
P2293
Q14883734
WRN
Q7187
[ "RECQ3", "RECQL2", "RECQL3", "Werner syndrome RecQ like helicase", "WRN RecQ like helicase" ]
[ "Q188874" ]
[ "colorectal cancer" ]
[ "Q12136" ]
[ [ "bowel cancer", "colon and rectal cancer", "colon cancer", "Colorectal cancer, familial", "large intestine cancer" ] ]
Q17862091-P2293
P2293
Q17862091
CLCNKA
Q7187
[ "chloride voltage-gated channel Ka", "ClC-K1", "CLCK1", "hClC-Ka" ]
[ "Q27674852" ]
[ "Bartter disease type 4b" ]
[ "Q12136" ]
[ [ "BARTS4B" ] ]
Q18039765-P2293
P2293
Q18039765
TBX21
Q7187
[ "T-box 21", "T-box transcription factor 21", "T-bet", "T-PET", "TBET", "TBLYM" ]
[ "Q2039267" ]
[ "aspirin-induced asthma" ]
[ "Q12136" ]
[ [ "Asa Triad", "Asthma and Nasal Polyps" ] ]
Q18026413-P2293
P2293
Q18026413
GPR35
Q7187
[ "G protein-coupled receptor 35" ]
[ "Q1477", "Q917447", "Q18554727" ]
[ "ulcerative colitis", "inflammatory bowel diseases", "sclerosing cholangitis" ]
[ "Q12136", "Q12136", "Q12136" ]
[ [ "UC", "Colitis Ulcerative", "hemorrhagic colitis", "left-sided ulcerative colitis" ], [ "IBD" ], [ "Cholangitis, Sclerosing", "fibrosing cholangitis" ] ]
Q18052189-P2293
P2293
Q18052189
ZNF827
Q7187
[ "zinc finger protein 827" ]
[ "Q12214" ]
[ "smallpox" ]
[ "Q12136" ]
[ [ "ordinary smallpox", "variola", "variola vera" ] ]
Q18040257-P2293
P2293
Q18040257
UCHL5
Q7187
[ "UCH37", "CGI-70", "INO80R" ]
[ "Q3743620" ]
[ "cannabis dependence" ]
[ "Q12136" ]
[ [ "cannabis abuse", "marijuana abuse weed abuse" ] ]
Q18031402-P2293
P2293
Q18031402
SCNN1A
Q7187
[ "sodium channel epithelial 1 alpha subunit", "sodium channel epithelial 1 subunit alpha", "SCNEA", "ENaCa", "ENaCalpha", "BESC2", "LIDLS3" ]
[ "Q9051491" ]
[ "morbid obesity" ]
[ "Q12136" ]
[ [ "Morbid obesity (disorder)", "Obesity, Morbid", "Severe obesity" ] ]
Q18030721-P2293
P2293
Q18030721
PPP2R2B
Q7187
[ "B55BETA", "PP2AB55BETA", "PP2ABBETA", "PP2APR55B", "PP2APR55BETA", "PR2AB55BETA", "PR2ABBETA", "PR2APR55BETA", "PR52B", "PR55-BETA", "PR55BETA", "SCA12" ]
[ "Q4713263" ]
[ "alcohol dependence" ]
[ "Q12136" ]
[ [ "Alcohol addiction", "alcoholism" ] ]
Q18031807-P2293
P2293
Q18031807
SYN2
Q7187
[ "synapsin II", "SYNII", "Synapsin 2" ]
[ "Q41112" ]
[ "schizophrenia" ]
[ "Q12136" ]
[ [ "schizophrenia-1", "dementia praecox", "Kraepelin-Morel disease", "Morel-Kraepelin disease" ] ]
Q18252680-P2293
P2293
Q18252680
NOG
Q7187
[ "noggin", "SYM1", "SYNS1", "SYNS1A" ]
[ "Q32145508" ]
[ "brachydactyly type B2" ]
[ "Q12136" ]
[ [ "BDB2" ] ]
Q410688-P2293
P2293
Q410688
FLG
Q7187
[ "filaggrin", "ATOD2" ]
[ "Q3765145" ]
[ "ichthyosis vulgaris" ]
[ "Q12136" ]
[ [ "Common ichthyosis", "Fish scale disease", "Ichthyosis Simplex" ] ]
Q18035382-P2293
P2293
Q18035382
EMG1
Q7187
[ "NEP1", "C2F", "Grcc2f" ]
[ "Q18553398" ]
[ "Bowen-Conradi syndrome" ]
[ "Q12136" ]
[ [ "Bowen Hutterite Syndrome", "Bowen Hutterite syndrome (formerly)", "Bowen Hutterite Syndrome, Formerly", "Bowen syndrome, Hutterite type", "Bowen-Conradi Hutterite syndrome", "BWCNS" ] ]
Q18047342-P2293
P2293
Q18047342
IMMP2L
Q7187
[ "IMP2", "IMMP2L-IT1", "IMP2-LIKE", "inner mitochondrial membrane peptidase subunit 2" ]
[ "Q191779" ]
[ "Tourette syndrome" ]
[ "Q12136" ]
[ [ "Gilles de la Tourette syndrome", "GTS", "Tourette's syndrome", "Chronic Motor Tics", "Guinon's disease", "motor-verbal tic disorder", "psychogenic tics", "Tourette Disorder" ] ]
Q18036639-P2293
P2293
Q18036639
PCNX1
Q7187
[ "pecanex", "pecanex 1", "pecanex homolog 1", "PCNXL1" ]
[ "Q11081" ]
[ "Alzheimer's disease" ]
[ "Q12136" ]
[ [ "AD", "Alzheimer dementia", "Alzheimer disease", "Alzheimer disease, familial", "Alzheimer's dementia", "Alzheimers dementia" ] ]
Q18025483-P2293
P2293
Q18025483
GATA6
Q7187
[ "GATA binding protein 6" ]
[ "Q1126831", "Q27674825" ]
[ "tetralogy of Fallot", "atrial heart septal defect 9" ]
[ "Q12136", "Q12136" ]
[ [ "TOF", "Fallot tetralogy" ], [ "ASD9", "atrial heart septal defect type 9", "atrial septal defect 9", "Atrial Septal Defect type 9" ] ]
Q18046843-P2293
P2293
Q18046843
CLPTM1L
Q7187
[ "CLPTM1-like", "CLPTM1 like", "CRR9" ]
[ "Q47912", "Q212961", "Q843799", "Q1088156" ]
[ "lung cancer", "pancreatic cancer", "adenocarcinoma of the lung", "chronic lymphocytic leukemia" ]
[ "Q12136", "Q12136", "Q12136", "Q12136" ]
[ [ "malignant lung tumor", "malignant neoplasm of lung" ], [ "Ca body of pancreas", "Ca head of pancreas", "Ca tail of pancreas" ], [ "bronchogenic lung adenocarcinoma", "lung adenocarcinoma", "non-small cell lung adenocarcinoma", "nonsmall cell adenocarcinoma", "pulmonary adenocarcinoma" ], [ "CLL", "B Cell CLL", "B Cell Lymphocytic Leukemia", "B-cell chronic lymphoid leukemia", "B-Cell CLL", "B-Cell Lymphocytic Leukemia", "B-CLL", "BCLL", "chronic lymphatic leukemia", "Chronic Lymphogenous Leukemia", "Leukemia, Chronic Lymphatic", "lymphoplasmacytic leukemia", "Small lymphocytic lymphoma" ] ]
Q18053214-P2293
P2293
Q18053214
SLC39A11
Q7187
[ "ZIP-11", "solute carrier family 39 member 11", "C17orf26", "ZIP11" ]
[ "Q206901" ]
[ "amyotrophic lateral sclerosis" ]
[ "Q12136" ]
[ [ "ALS", "Charcot disease", "Lou Gehrig disease", "Lou Gehrig's disease", "motor neuron disease, bulbar" ] ]
Q17860467-P2293
P2293
Q17860467
CDKN1C
Q7187
[ "BWS", "p57", "KIP2", "WBS", "cyclin-dependent kinase inhibitor 1C", "p57Kip2", "cyclin dependent kinase inhibitor 1C", "BWCR" ]
[ "Q18553534" ]
[ "IMAGe syndrome" ]
[ "Q12136" ]
[ [] ]
Q18030372-P2293
P2293
Q18030372
PCCB
Q7187
[]
[ "Q7250337" ]
[ "propionic acidemia" ]
[ "Q12136" ]
[ [ "glycinemia, ketotic", "ketotic glycinemia", "ketotic hyperglycinemia", "ketotic II glycinemia", "Pcc Deficiency", "propionic aciduria", "Propionicacidemia" ] ]
Q18049298-P2293
P2293
Q18049298
TMC1
Q7187
[ "DFNA36", "DFNB11", "DFNB7", "transmembrane channel like 1" ]
[ "Q9079046" ]
[ "nonsyndromic deafness" ]
[ "Q12136" ]
[ [ "Familial deafness", "Isolated genetic deafness", "Non-syndromic genetic deafness", "nonsyndromic hearing loss", "nonsyndromic hereditary hearing loss" ] ]
Q18036678-P2293
P2293
Q18036678
MYT1L
Q7187
[ "MRD39", "myelin transcription factor 1 like", "NZF1", "ZC2H2C2", "ZC2HC4B" ]
[ "Q181923" ]
[ "attention deficit hyperactivity disorder" ]
[ "Q12136" ]
[ [ "ADD", "ADHD", "AD/HD", "hyperkinetic disorder", "A.D.H.D", "ADDH", "attention deficit disorder", "attention deficit hyperactivity syndrome", "attention deficit syndrome", "attention deficit/hyperactivity disorder" ] ]
Q18037089-P2293
P2293
Q18037089
TRIM2
Q7187
[ "CMT2R", "RNF86", "tripartite motif containing 2" ]
[ "Q8277" ]
[ "multiple sclerosis" ]
[ "Q12136" ]
[ [ "MS", "disseminated sclerosis", "generalised multiple sclerosis", "generalized multiple sclerosis", "Generalized multiple sclerosis (disorder)", "insular sclerosis", "Multiple sclerosis; MS" ] ]
Q14907954-P2293
P2293
Q14907954
CDKL5
Q7187
[ "EIEE2", "CFAP247", "cyclin dependent kinase like 5", "ISSX", "STK9" ]
[ "Q917357" ]
[ "Rett syndrome" ]
[ "Q12136" ]
[ [ "atypical Rett syndrome", "Rett's syndrome", "Rett's disorder" ] ]
Q17854030-P2293
P2293
Q17854030
C1QB
Q7187
[ "complement C1q B chain" ]
[ "Q56002622" ]
[ "C1q deficiency" ]
[ "Q12136" ]
[ [ "C1QD" ] ]
Q18031394-P2293
P2293
Q18031394
SCN2A
Q7187
[ "HBA", "Nav1.2", "sodium voltage-gated channel alpha subunit 2", "NAC2", "BFIC3", "BFIS3", "BFNIS", "EIEE11", "HBSCI", "HBSCII", "Na(v)1.2", "SCN2A1", "SCN2A2" ]
[ "Q520127" ]
[ "periodontitis" ]
[ "Q12136" ]
[ [ "chronic pericementitis", "periodontium inflammation", "periodontiumitis", "pyorrhea" ] ]
Q5446445-P2293
P2293
Q5446445
FGB
Q7187
[ "fibrinogen beta chain", "HEL-S-78p" ]
[ "Q56014077" ]
[ "congenital fibrinogen deficiency" ]
[ "Q12136" ]
[ [ "Fibrinogen deficiency, congenital" ] ]
Q18036136-P2293
P2293
Q18036136
PTPRT
Q7187
[ "RPTPrho" ]
[ "Q520127" ]
[ "periodontitis" ]
[ "Q12136" ]
[ [ "chronic pericementitis", "periodontium inflammation", "periodontiumitis", "pyorrhea" ] ]
Q18042393-P2293
P2293
Q18042393
KCNQ5
Q7187
[ "Kv7.5", "MRD46", "potassium voltage-gated channel subfamily Q member 5" ]
[ "Q470427" ]
[ "refractive error" ]
[ "Q12136" ]
[ [ "refraction or accommodation disorder", "Abnormality of refraction", "ametropia", "disorder of refraction", "eye refraction disorder", "refraction error", "refractive disorder", "Refractive errors" ] ]
Q18046338-P2293
P2293
Q18046338
MCTP1
Q7187
[]
[ "Q131749", "Q131755" ]
[ "anorexia nervosa", "bipolar disorder" ]
[ "Q12136", "Q12136" ]
[ [ "anorexia nerviosa", "size 0" ], [ "BP", "depressione bipolare", "depressione maniacale", "disturbo affettivo bipolare", "disturbo bipolare maniacale I.", "disturbo bipolare misto", "disturbo maniacale", "disturbo maniaco-depressivo", "follia circolare", "ipomania mania", "malattia bipolare", "malattia maniaco-depressiva", "mania ipomania", "psicosi maniaco-depressiva" ] ]
Q14908260-P2293
P2293
Q14908260
KAT2B
Q7187
[ "CAF", "PCAF", "P/CAF" ]
[ "Q202387" ]
[ "post-traumatic stress disorder" ]
[ "Q12136" ]
[ [ "PTSD", "battle fatigue", "post traumatic stress disorder", "shell shock", "shellshock", "thousand-mile stare", "traumatic neurosis" ] ]
Q15318183-P2293
P2293
Q15318183
SLC5A2
Q7187
[ "solute carrier family 5 member 2", "SGLT2" ]
[ "Q1207967" ]
[ "renal glycosuria" ]
[ "Q12136" ]
[ [ "Familial renal glucosuria", "Glycosuria, Renal", "GLYS", "Glys1", "renal diabetes", "Renal glucosuria", "SGLT2 deficiency" ] ]
Q18041449-P2293
P2293
Q18041449
ULK4
Q7187
[ "FAM7C1", "REC01035", "unc-51 like kinase 4" ]
[ "Q467635" ]
[ "multiple myeloma" ]
[ "Q12136" ]
[ [ "plasma cell myeloma" ] ]
Q15317427-P2293
P2293
Q15317427
NFKB1
Q7187
[ "p50", "p105", "CVID12", "EBP-1", "NF-kappabeta", "NF-kappaB", "NFkappaB", "nuclear factor kappa B subunit 1", "KBF1", "NF-kappa-B", "NF-kappa-B1", "NFKB-p105", "NFKB-p50" ]
[ "Q41112" ]
[ "schizophrenia" ]
[ "Q12136" ]
[ [ "schizophrenia-1", "dementia praecox", "Kraepelin-Morel disease", "Morel-Kraepelin disease" ] ]
Q18030404-P2293
P2293
Q18030404
PDE3A
Q7187
[ "CGI-PDE A", "HTNB", "phosphodiesterase 3A", "CGI-PDE", "CGI-PDE-A" ]
[ "Q187255", "Q280156" ]
[ "rheumatoid arthritis", "male infertility" ]
[ "Q12136", "Q12136" ]
[ [ "atrophic Arthritis", "Malignant rheumatoid arthritis" ], [ "male factor infertility", "male reproductive system infertility" ] ]
Q20782710-P2293
P2293
Q20782710
DAOA
Q7187
[ "LG72", "SG72" ]
[ "Q41112" ]
[ "schizophrenia" ]
[ "Q12136" ]
[ [ "schizophrenia-1", "dementia praecox", "Kraepelin-Morel disease", "Morel-Kraepelin disease" ] ]
Q17855901-P2293
P2293
Q17855901
CASP7
Q7187
[ "Caspase 7", "CMH-1", "MCH3", "ICE-LAP3", "LICE2" ]
[ "Q180152" ]
[ "vitiligo" ]
[ "Q12136" ]
[ [ "leukoderma", "leucoderma" ] ]