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---|---|---|---|---|---|---|---|---|---|
Q14863436-P2293 | P2293 | Q14863436 | BCL2 | Q7187 | [
"B-cell CLL/lymphoma 2",
"BCL2, apoptosis regulator",
"BCL2 apoptosis regulator",
"PPP1R50"
] | [
"Q1088156"
] | [
"chronic lymphocytic leukemia"
] | [
"Q12136"
] | [
[
"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"
]
] |
Q20777687-P2293 | P2293 | Q20777687 | LINC02523 | Q7187 | [
"long intergenic non-protein coding RNA 2523",
"uncharacterized LOC643623"
] | [
"Q944777"
] | [
"endometrial cancer"
] | [
"Q12136"
] | [
[
"Endometrial Tumor",
"endometrium tumor",
"tumor of Endometrium",
"Tumor of the Endometrium"
]
] |
Q18051900-P2293 | P2293 | Q18051900 | PYHIN1 | Q7187 | [
"IFIX",
"pyrin and HIN domain family member 1"
] | [
"Q35869"
] | [
"asthma"
] | [
"Q12136"
] | [
[
"exercise-induced asthma",
"Exercise induced asthma",
"asthma brionchiole",
"bronchial hyperreactivity",
"chronic obstructive asthma"
]
] |
Q18045581-P2293 | P2293 | Q18045581 | XYLT2 | Q7187 | [
"SOS",
"xylosyltransferase 2",
"XT-II",
"XT2",
"xylT-II",
"PXYLT2"
] | [
"Q1052391"
] | [
"inherited pseudoxanthoma elasticum"
] | [
"Q12136"
] | [
[
"PXE",
"Gronblad Strandberg syndrome",
"Gronblad-Strandberg syndrome"
]
] |
Q14864464-P2293 | P2293 | Q14864464 | IL10 | Q7187 | [
"CSIF",
"interleukin 10",
"TGIF",
"GVHDS",
"IL10A"
] | [
"Q1477"
] | [
"ulcerative colitis"
] | [
"Q12136"
] | [
[
"UC",
"Colitis Ulcerative",
"hemorrhagic colitis",
"left-sided ulcerative colitis"
]
] |
Q18049755-P2293 | P2293 | Q18049755 | ANKLE1 | Q7187 | [
"LEM3",
"ankyrin repeat and LEM domain containing 1",
"ANKRD41",
"LEMD6"
] | [
"Q172341"
] | [
"ovarian cancer"
] | [
"Q12136"
] | [
[
"Familial ovarian malignant tumor",
"hereditary ovarian cancer",
"malignant ovarian tumor",
"malignant tumour of ovary",
"primary ovarian cancer"
]
] |
Q14905473-P2293 | P2293 | Q14905473 | VHL | Q7187 | [
"pVHL",
"HRCA1",
"RCA1",
"von Hippel-Lindau tumor suppressor",
"VHL1"
] | [
"Q536269",
"Q21694578"
] | [
"phaeochromocytoma",
"familial erythrocytosis 2"
] | [
"Q12136",
"Q12136"
] | [
[
"PCC",
"Pheochromocytoma"
],
[
"Chuvash erythrocytosis",
"Chuvash erythromatosis",
"Chuvash polycythemia",
"Chuvash type polycythemia",
"ECYT2",
"Polycythemia, Chuvash Type"
]
] |
Q18051355-P2293 | P2293 | Q18051355 | LACC1 | Q7187 | [
"laccase domain containing 1",
"C13orf31"
] | [
"Q1472"
] | [
"Crohn's disease"
] | [
"Q12136"
] | [
[
"Crohn disease",
"Crohn's disease of colon",
"Crohn's disease of large bowel",
"Granulomatous Colitis",
"regional colitis",
"regional enteritis",
"regional enteritis of the large bowel",
"regional Ileitis",
"regional ileocolitis"
]
] |
Q17709638-P2293 | P2293 | Q17709638 | ADCY2 | Q7187 | [
"adenylate cyclase 2",
"AC2",
"HBAC2"
] | [
"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"
]
] |
Q18036138-P2293 | P2293 | Q18036138 | FAF1 | Q7187 | [
"CGI-03",
"Fas associated factor 1",
"hFAF1",
"HFAF1s",
"UBXD12",
"UBXN3A"
] | [
"Q3025883",
"Q4713263"
] | [
"type 2 diabetes",
"alcohol dependence"
] | [
"Q12136",
"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"
],
[
"Alcohol addiction",
"alcoholism"
]
] |
Q18039947-P2293 | P2293 | Q18039947 | FAM135B | Q7187 | [
"C8ORFK32",
"family with sequence similarity 135 member B"
] | [
"Q520127"
] | [
"periodontitis"
] | [
"Q12136"
] | [
[
"chronic pericementitis",
"periodontium inflammation",
"periodontiumitis",
"pyorrhea"
]
] |
Q17928632-P2293 | P2293 | Q17928632 | FOXG1 | Q7187 | [
"BF1",
"BF2",
"FHKL3",
"FKH2",
"FKHL1",
"FKHL2",
"FKHL3",
"FKHL4",
"forkhead box G1",
"FOXG1A",
"FOXG1B",
"FOXG1C",
"HBF-1",
"HBF-2",
"HBF-3",
"HBF-G2",
"HBF2",
"HFK1",
"HFK2",
"HFK3",
"KHL2",
"QIN"
] | [
"Q917357"
] | [
"Rett syndrome"
] | [
"Q12136"
] | [
[
"atypical Rett syndrome",
"Rett's syndrome",
"Rett's disorder"
]
] |
Q18038668-P2293 | P2293 | Q18038668 | MORC1 | Q7187 | [
"MORC family CW-type zinc finger 1",
"CT33",
"ZCW6"
] | [
"Q188874"
] | [
"colorectal cancer"
] | [
"Q12136"
] | [
[
"bowel cancer",
"colon and rectal cancer",
"colon cancer",
"Colorectal cancer, familial",
"large intestine cancer"
]
] |
Q15318481-P2293 | P2293 | Q15318481 | ZEB2 | Q7187 | [
"SIP-1",
"SIP1",
"zinc finger E-box binding homeobox 2",
"SMADIP1",
"HSPC082",
"ZFHX1B"
] | [
"Q41112",
"Q1164529",
"Q2757585"
] | [
"schizophrenia",
"renal cell carcinoma",
"Mowat-Wilson syndrome"
] | [
"Q12136",
"Q12136",
"Q12136"
] | [
[
"schizophrenia-1",
"dementia praecox",
"Kraepelin-Morel disease",
"Morel-Kraepelin disease"
],
[
"adenocarcinoma of kidney",
"carcinoma, renal cell",
"hypernephroma",
"hypernephroma (disorder)",
"Kidney Adenocarcinoma",
"Peritoneal cavity",
"Renal Cell Adenocarcinoma",
"Renal cell carcinoma, NOS",
"RCC",
"Renal Cell Cancer",
"Adenocarcinoma of the Kidney"
],
[
"Hirschsprung disease mental retardation syndrome",
"Hirschsprung disease-intellectual disability syndrome",
"MOWS"
]
] |
Q18052047-P2293 | P2293 | Q18052047 | PPM1L | Q7187 | [
"PP2C-epsilon",
"PP2CE",
"PPM1-LIKE"
] | [
"Q265936"
] | [
"Kawasaki disease"
] | [
"Q12136"
] | [
[
"Kd",
"Kawasaki's disease",
"acute febrile MCLS",
"Infantile Polyarteritis",
"Infantile Polyarteritis Nodosa",
"Kawasaki disease, KD",
"MLNS",
"mucocutaneous lymph node syndrome"
]
] |
Q17927821-P2293 | P2293 | Q17927821 | FDFT1 | Q7187 | [
"SS",
"SQS",
"ERG9",
"DGPT",
"SQSD"
] | [
"Q6058862"
] | [
"fatty liver disease"
] | [
"Q12136"
] | [
[
"fatty change of liver",
"fatty degeneration of the liver",
"hepatic lipidosis",
"hepatic steatosis",
"liver steatosis",
"steatosis of liver",
"steatosis of liver (disorder)",
"steatosis of the liver"
]
] |
Q18046371-P2293 | P2293 | Q18046371 | EHMT1 | Q7187 | [
"GLP",
"bA188C12.1",
"EHMT1-IT1",
"Eu-HMTase1",
"EUHMTASE1",
"FP13812",
"GLP1",
"KLEFS1",
"KMT1D"
] | [
"Q4646476"
] | [
"Kleefstra syndrome"
] | [
"Q12136"
] | [
[
"9q subtelomeric deletion syndrome",
"9Q- Syndrome",
"9q-syndrome",
"9q34 deletion syndrome",
"9q34.3 microdeletion syndrome",
"Chromosome 9q deletion syndrome",
"chromosome 9q34.3 deletion syndrome",
"obsolete Kleefstra Syndrome"
]
] |
Q18053209-P2293 | P2293 | Q18053209 | SLC16A13 | Q7187 | [
"MCT13",
"solute carrier family 16 member 13"
] | [
"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"
]
] |
Q18052504-P2293 | P2293 | Q18052504 | SPRED1 | Q7187 | [
"NFLS",
"hSpred1",
"LGSS",
"PPP1R147"
] | [
"Q890470"
] | [
"Legius syndrome"
] | [
"Q12136"
] | [
[
"Neurofibromatosis 1-like syndrome",
"Neurofibromatosis type 1 like syndrome",
"NF1-like syndrome"
]
] |
Q18027359-P2293 | P2293 | Q18027359 | HSPA9 | Q7187 | [
"PBP74",
"EVPLS",
"MOT",
"SAAN",
"MOT2",
"HSPA9B",
"CRP40",
"GRP75",
"HEL-S-124m",
"MTHSP75",
"SIDBA4",
"CSA",
"GRP-75"
] | [
"Q19833018"
] | [
"autosomal dominant sideroblastic anemia"
] | [
"Q12136"
] | [
[]
] |
Q18063749-P2293 | P2293 | Q18063749 | KLLN | Q7187 | [
"killin, p53 regulated DNA replication inhibitor",
"CWS4",
"KILLIN",
"killin, p53-regulated DNA replication inhibitor"
] | [
"Q69637370"
] | [
"Cowden syndrome 4"
] | [
"Q12136"
] | [
[]
] |
Q18035352-P2293 | P2293 | Q18035352 | NDRG1 | Q7187 | [
"RTP",
"CAP43",
"CMT4D",
"GC4",
"HMSNL",
"N-myc downstream regulated 1",
"NDR1",
"NMSL",
"PROXY1",
"RIT42",
"TARG1",
"TDD5"
] | [
"Q202387"
] | [
"post-traumatic stress disorder"
] | [
"Q12136"
] | [
[
"PTSD",
"battle fatigue",
"post traumatic stress disorder",
"shell shock",
"shellshock",
"thousand-mile stare",
"traumatic neurosis"
]
] |
Q18047843-P2293 | P2293 | Q18047843 | SPPL2A | Q7187 | [
"IMP3",
"signal peptide peptidase like 2A",
"PSL2"
] | [
"Q11081"
] | [
"Alzheimer's disease"
] | [
"Q12136"
] | [
[
"AD",
"Alzheimer dementia",
"Alzheimer disease",
"Alzheimer disease, familial",
"Alzheimer's dementia",
"Alzheimers dementia"
]
] |
Q18034084-P2293 | P2293 | Q18034084 | CDYL | Q7187 | [
"chromodomain Y like",
"chromodomain protein, Y-like",
"CDYL1"
] | [
"Q199804"
] | [
"chronic obstructive pulmonary disease"
] | [
"Q12136"
] | [
[
"COLD",
"COPD",
"chronic obstructive airway disease",
"Chronic Obstructive Airways Disease",
"chronic obstructive airways disease NOS",
"chronic obstructive lung disease",
"chronic obstructive lung disease disorder",
"obstructive lung disease, chronic"
]
] |
Q18040744-P2293 | P2293 | Q18040744 | CNTN5 | Q7187 | [
"contactin 5",
"HNB-2s",
"NB-2"
] | [
"Q12214",
"Q168403"
] | [
"smallpox",
"myopia"
] | [
"Q12136",
"Q12136"
] | [
[
"ordinary smallpox",
"variola",
"variola vera"
],
[
"near vision",
"near-sightedness",
"short-sightedness"
]
] |
Q18047620-P2293 | P2293 | Q18047620 | MEGF10 | Q7187 | [
"SR-F3",
"EMARDD",
"multiple EGF like domains 10"
] | [
"Q11081"
] | [
"Alzheimer's disease"
] | [
"Q12136"
] | [
[
"AD",
"Alzheimer dementia",
"Alzheimer disease",
"Alzheimer disease, familial",
"Alzheimer's dementia",
"Alzheimers dementia"
]
] |
Q18031834-P2293 | P2293 | Q18031834 | MAP3K7 | Q7187 | [
"CSCF",
"FMD2",
"MEKK7",
"mitogen-activated protein kinase kinase kinase 7",
"TAK1",
"TGF1a"
] | [
"Q17540795"
] | [
"Forney robinson pascoe syndrome"
] | [
"Q12136"
] | [
[
"Forney syndrome",
"Forney-Robinson-Pascoe syndrome"
]
] |
Q18025464-P2293 | P2293 | Q18025464 | GATA3 | Q7187 | [
"HDR",
"GATA binding protein 3",
"HDRS"
] | [
"Q180664",
"Q187255",
"Q209369"
] | [
"acute lymphocytic leukemia",
"rheumatoid arthritis",
"Hodgkin lymphoma"
] | [
"Q12136",
"Q12136",
"Q12136"
] | [
[
"ALL",
"acute lymphoblastic leukaemia",
"acute lymphoblastic leukemia"
],
[
"atrophic Arthritis",
"Malignant rheumatoid arthritis"
],
[
"HL",
"Hodgkin's disease",
"Hodgkin's lymphoma",
"Hodgkin disease",
"Hodgkin's sarcoma",
"Hodgkins lymphoma"
]
] |
Q14864515-P2293 | P2293 | Q14864515 | IL2 | Q7187 | [
"TCGF",
"interleukin 2",
"lymphokine"
] | [
"Q42982",
"Q124407"
] | [
"allergy",
"type-1 diabetes"
] | [
"Q12136",
"Q12136"
] | [
[
"allergic disease",
"allergies",
"hypersensitivity",
"Immunologic diseases. Allergy"
],
[
"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"
]
] |
Q18038320-P2293 | P2293 | Q18038320 | ELP4 | Q7187 | [
"AN2",
"C11orf19",
"dJ68P15A.1",
"hELP4",
"PAX6NEB",
"PAXNEB"
] | [
"Q55785125"
] | [
"aniridia 2; AN2"
] | [
"Q12136"
] | [
[
"Aniridia type 2"
]
] |
Q18031501-P2293 | P2293 | Q18031501 | ST3GAL3 | Q7187 | [
"ST3GalIII",
"ST3N",
"ST3Gal III",
"EIEE15",
"MRT12",
"SIAT6",
"ST3GALII"
] | [
"Q206901"
] | [
"amyotrophic lateral sclerosis"
] | [
"Q12136"
] | [
[
"ALS",
"Charcot disease",
"Lou Gehrig disease",
"Lou Gehrig's disease",
"motor neuron disease, bulbar"
]
] |
Q18056721-P2293 | P2293 | Q18056721 | MYMK | Q7187 | [
"transmembrane protein 8C",
"TMEM8C",
"myomaker, myoblast fusion factor",
"MYOMAKER",
"TMEM226"
] | [
"Q3508625"
] | [
"Carey Fineman Ziter syndrome"
] | [
"Q12136"
] | [
[
"CFZ",
"Carey-Fineman-Ziter syndrome",
"Cfz Syndrome",
"CFZS",
"Myopathy-Moebius-Robin syndrome"
]
] |
Q17544238-P2293 | P2293 | Q17544238 | YAP1 | Q7187 | [
"YKI",
"Yes1 associated transcriptional regulator",
"Yes associated protein 1",
"YAP65",
"YAP2",
"COB1"
] | [
"Q500816"
] | [
"polycystic ovary syndrome"
] | [
"Q12136"
] | [
[
"PCOS",
"Polycystic ovaries",
"Stein-Leventhal syndrome",
"Hyperandrogenemia",
"Multicystic ovaries",
"Pco1",
"PCOS1",
"Polycystic Ovarian disease",
"polysistic ovary syndrom",
"Stein-Leventhal synd."
]
] |
Q18033167-P2293 | P2293 | Q18033167 | SKAP1 | Q7187 | [
"HEL-S-81p",
"SCAP1",
"SKAP55"
] | [
"Q172341"
] | [
"ovarian cancer"
] | [
"Q12136"
] | [
[
"Familial ovarian malignant tumor",
"hereditary ovarian cancer",
"malignant ovarian tumor",
"malignant tumour of ovary",
"primary ovarian cancer"
]
] |
Q14901714-P2293 | P2293 | Q14901714 | CAV3 | Q7187 | [
"caveolin 3",
"RMD2",
"MPDT",
"LQT9",
"LGMD1C",
"VIP-21",
"VIP21"
] | [
"Q161801",
"Q54366429"
] | [
"sudden infant death syndrome",
"hyperCKmia"
] | [
"Q12136",
"Q12136"
] | [
[
"Sudden infant death syndrome (finding)",
"SIDS",
"Crib death",
"cot death",
"Cot death (context-dependent category)",
"Crib death (context-dependent category)"
],
[
"Cpk, Elevated Serum",
"Hyperckemia, Idiopathic"
]
] |
Q14887700-P2293 | P2293 | Q14887700 | PIK3CA | Q7187 | [
"PI3K",
"MCM",
"PI3K-alpha",
"MCAP",
"MCMTC",
"CLAPO",
"CLOVE",
"CWS5",
"p110-alpha"
] | [
"Q188874",
"Q2166371",
"Q22115476",
"Q55783961"
] | [
"colorectal cancer",
"seborrheic keratosis",
"CLOVES syndrome",
"CLAPO syndrome"
] | [
"Q12136",
"Q12136",
"Q12136",
"Q12136"
] | [
[
"bowel cancer",
"colon and rectal cancer",
"colon cancer",
"Colorectal cancer, familial",
"large intestine cancer"
],
[
"Basal Cell Papilloma",
"Keratosis Seborrheica",
"Keratosis, Seborrheic"
],
[
"Clove Syndrome"
],
[
"Lopez-Gutierrez Syndrome"
]
] |
Q18041952-P2293 | P2293 | Q18041952 | PEX26 | Q7187 | [
"peroxisomal biogenesis factor 26",
"PBD7A",
"PBD7B",
"PEX26M1T",
"Pex26pM1T"
] | [
"Q51250082"
] | [
"Zellweger spectrum disorder"
] | [
"Q12136"
] | [
[
"ZSD",
"cerebrohepatorenal syndrome",
"Cerebrohepatorenal Syndrome",
"PBD-ZSD",
"PBD, ZSS",
"peroxisome biogenesis disorder",
"Peroxisome biogenesis disorder",
"Peroxisome biogenesis disorder spectrum",
"Zellweger syndrome spectrum",
"Zellweger Syndrome Spectrum",
"ZSS"
]
] |
Q18029688-P2293 | P2293 | Q18029688 | MX2 | Q7187 | [
"MXB",
"MX dynamin like GTPase 2"
] | [
"Q180614"
] | [
"melanoma"
] | [
"Q12136"
] | [
[
"malignant melanoma",
"Naevocarcinom",
"Naevocarcinoma"
]
] |
Q18055896-P2293 | P2293 | Q18055896 | POLN | Q7187 | [
"POL4P",
"DNA polymerase nu",
"polymerase (DNA) nu"
] | [
"Q11081"
] | [
"Alzheimer's disease"
] | [
"Q12136"
] | [
[
"AD",
"Alzheimer dementia",
"Alzheimer disease",
"Alzheimer disease, familial",
"Alzheimer's dementia",
"Alzheimers dementia"
]
] |
Q17816212-P2293 | P2293 | Q17816212 | AGTR2 | Q7187 | [
"MRX88",
"Angiotensin II receptor type 2",
"AT2",
"ATGR2"
] | [
"Q178194"
] | [
"cystic fibrosis"
] | [
"Q12136"
] | [
[
"CF",
"mucoviscidosis"
]
] |
Q18042000-P2293 | P2293 | Q18042000 | ATF7IP | Q7187 | [
"AM",
"MCAF",
"ATF-IP",
"activating transcription factor 7 interacting protein",
"MCAF1",
"p621"
] | [
"Q18556865"
] | [
"testicular germ cell cancer"
] | [
"Q12136"
] | [
[
"germ cell tumor of testis",
"testicular germ cell neoplasm",
"Testicular Germ Cell Tumor"
]
] |
Q17907814-P2293 | P2293 | Q17907814 | CMKLR1 | Q7187 | [
"DEZ",
"CCX832",
"CHEMERINR",
"ChemR23",
"RVER1"
] | [
"Q3658562"
] | [
"non-small-cell lung carcinoma"
] | [
"Q12136"
] | [
[
"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"
]
] |
Q18042152-P2293 | P2293 | Q18042152 | ZC4H2 | Q7187 | [
"zinc finger C4H2-type containing",
"MCS",
"MRXS4",
"WWS",
"HCA127",
"KIAA1166",
"WRWF",
"WRWFFR"
] | [
"Q8041560"
] | [
"X-linked intellectual disability"
] | [
"Q12136"
] | [
[
"Mental Retardation, X-Linked",
"syndromic X-linked intellectual disability"
]
] |
Q18038734-P2293 | P2293 | Q18038734 | TNFRSF21 | Q7187 | [
"DR6",
"TNF receptor superfamily member 21",
"tumor necrosis factor receptor superfamily member 21",
"BM-018",
"CD358"
] | [
"Q741713"
] | [
"panic disorder"
] | [
"Q12136"
] | [
[
"PD",
"panic anxiety syndrome"
]
] |
Q18031607-P2293 | P2293 | Q18031607 | SMO | Q7187 | [
"CRJS",
"FZD11",
"Gx",
"SMOH",
"smoothened, frizzled class receptor"
] | [
"Q55783221"
] | [
"Curry-Jones syndrome"
] | [
"Q12136"
] | [
[
"Curry Jones syndrome"
]
] |
Q18030355-P2293 | P2293 | Q18030355 | PAX4 | Q7187 | [
"MODY9",
"KPD",
"paired box 4"
] | [
"Q124407"
] | [
"type-1 diabetes"
] | [
"Q12136"
] | [
[
"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"
]
] |
Q17914047-P2293 | P2293 | Q17914047 | DNMT3A | Q7187 | [
"DNA methyltransferase 3 alpha",
"DNMT3A2",
"HESJAS",
"M.HsaIIIA",
"TBRS"
] | [
"Q1472"
] | [
"Crohn's disease"
] | [
"Q12136"
] | [
[
"Crohn disease",
"Crohn's disease of colon",
"Crohn's disease of large bowel",
"Granulomatous Colitis",
"regional colitis",
"regional enteritis",
"regional enteritis of the large bowel",
"regional Ileitis",
"regional ileocolitis"
]
] |
Q18038817-P2293 | P2293 | Q18038817 | PCLO | Q7187 | [
"ACZ",
"PCH3"
] | [
"Q42844",
"Q55950055"
] | [
"major depressive disorders",
"unipolar depression"
] | [
"Q12136",
"Q12136"
] | [
[
"MDD",
"depression",
"clinical depression",
"major depression",
"major depression disorder",
"recurrent depressive disorder",
"recurrent major depression",
"recurrent major depression in complete remission",
"single major depressive episode",
"unipolar depression",
"unipolar disorder"
],
[
"Major Depression"
]
] |
Q17912742-P2293 | P2293 | Q17912742 | DGKQ | Q7187 | [
"DAGK",
"diacylglycerol kinase theta",
"DAGK7",
"DAGK4"
] | [
"Q11085"
] | [
"Parkinson's disease"
] | [
"Q12136"
] | [
[
"Parkinson disease",
"paralysis agitans",
"parkinsonismus idiopathicus"
]
] |
Q18047564-P2293 | P2293 | Q18047564 | CCDC77 | Q7187 | [
"coiled-coil domain containing 77"
] | [
"Q9051491"
] | [
"morbid obesity"
] | [
"Q12136"
] | [
[
"Morbid obesity (disorder)",
"Obesity, Morbid",
"Severe obesity"
]
] |
Q18031477-P2293 | P2293 | Q18031477 | SH3GL2 | Q7187 | [
"CNSA2",
"EEN-B1",
"SH3D2A",
"SH3P4"
] | [
"Q11085"
] | [
"Parkinson's disease"
] | [
"Q12136"
] | [
[
"Parkinson disease",
"paralysis agitans",
"parkinsonismus idiopathicus"
]
] |
Q18033065-P2293 | P2293 | Q18033065 | ELP1 | Q7187 | [
"FD",
"elongator complex protein 1",
"IKBKAP",
"DYS",
"IKAP",
"IKI3",
"TOT1"
] | [
"Q2325854"
] | [
"Riley-Day syndrome"
] | [
"Q12136"
] | [
[
"Dysautonomia, Familial",
"familial autonomic nervous dysfunction",
"familial dysautonomia",
"HSAN 3",
"HSAN III",
"HSAN3"
]
] |
Q18053511-P2293 | P2293 | Q18053511 | LEMD2 | Q7187 | [
"LEM2",
"LEM domain containing 2",
"NET25",
"LEM domain nuclear envelope protein 2",
"CTRCT42",
"dJ482C21.1"
] | [
"Q27674884"
] | [
"cataract 46 juvenile-onset"
] | [
"Q12136"
] | [
[
"Cataract Hutterite type",
"CTRCT46"
]
] |
Q17928227-P2293 | P2293 | Q17928227 | FGG | Q7187 | [
"fibrinogen gamma chain"
] | [
"Q56014077"
] | [
"congenital fibrinogen deficiency"
] | [
"Q12136"
] | [
[
"Fibrinogen deficiency, congenital"
]
] |
Q18041803-P2293 | P2293 | Q18041803 | LGR4 | Q7187 | [
"BNMD17",
"GPR48"
] | [
"Q165328"
] | [
"osteoporosis"
] | [
"Q12136"
] | [
[
"bone loss"
]
] |
Q18025811-P2293 | P2293 | Q18025811 | GFRA3 | Q7187 | [
"GDNF family receptor alpha 3",
"GDNFR3"
] | [
"Q12214"
] | [
"smallpox"
] | [
"Q12136"
] | [
[
"ordinary smallpox",
"variola",
"variola vera"
]
] |
Q18049567-P2293 | P2293 | Q18049567 | CDYL2 | Q7187 | [
"chromodomain Y like 2",
"PCCP1"
] | [
"Q128581"
] | [
"breast cancer"
] | [
"Q12136"
] | [
[
"breast disorder",
"malignant neoplasm of breast",
"malignant tumor of the breast",
"mammary cancer",
"primary breast cancer"
]
] |
Q14873945-P2293 | P2293 | Q14873945 | ADAMTS13 | Q7187 | [
"vWF-CP",
"C9orf8",
"VWFCP"
] | [
"Q18604563"
] | [
"Upshaw Schulman Syndrome"
] | [
"Q12136"
] | [
[
"TTP",
"Congenital ADAMTS-13 deficiency",
"Congenital ADAMTS13 Deficiency",
"Congenital TTP",
"Familial TTP",
"Microangiopathic Hemolytic Anemia",
"Schulman-Upshaw Syndrome",
"Upshaw Factor, Deficiency of",
"Upshaw-Schulman Syndrome"
]
] |
Q18039571-P2293 | P2293 | Q18039571 | SETD2 | Q7187 | [
"HIF-1",
"SET2",
"LLS",
"SET domain containing 2",
"KMT3A",
"HIP-1",
"p231HBP",
"HBP231",
"HSPC069",
"HYPB"
] | [
"Q264118"
] | [
"acute myeloid leukemia"
] | [
"Q12136"
] | [
[
"AML",
"Acute Granulocytic Leukemia",
"acute myeloblastic leukemia",
"Acute Myelocytic Leukemia",
"acute myelogenous leukemia",
"Acute Myelogenous Leukemias",
"acute myeloid leukaemia",
"Acute non lymphoblastic leukemia",
"AML - acute Myeloid Leukemia",
"ANLL",
"Leukemia, Acute Myelogenous",
"Leukemia, Myelocytic, acute",
"myeloid leukemia, acute"
]
] |
Q18046693-P2293 | P2293 | Q18046693 | PDGFD | Q7187 | [
"SCDGF-B",
"platelet derived growth factor D",
"IEGF",
"MSTP036",
"SCDGFB"
] | [
"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"
]
] |
Q14916487-P2293 | P2293 | Q14916487 | DAB1 | Q7187 | [
"DAB1, reelin adaptor protein"
] | [
"Q12214",
"Q180913",
"Q21097779"
] | [
"smallpox",
"bulimia",
"spinocerebellar ataxia type 37"
] | [
"Q12136",
"Q12136",
"Q12136"
] | [
[
"ordinary smallpox",
"variola",
"variola vera"
],
[
"hyperorexia nervosasa"
],
[
"SCA37"
]
] |
Q18041562-P2293 | P2293 | Q18041562 | CRTAC1 | Q7187 | [
"CEP68",
"LOTUS",
"ASPIC",
"cartilage acidic protein 1",
"CEP-68",
"ASPIC1"
] | [
"Q2351083"
] | [
"metabolic disease"
] | [
"Q12136"
] | [
[
"metabolic disorder",
"disease of metabolism",
"disorder of metabolic process",
"metabolic diseases",
"metabolic illness"
]
] |
Q18029171-P2293 | P2293 | Q18029171 | AFF1 | Q7187 | [
"AF4",
"AF4/FMR2 family member 1",
"MLLT2",
"PBM1"
] | [
"Q1485",
"Q11081"
] | [
"systemic lupus erythematosus",
"Alzheimer's disease"
] | [
"Q12136",
"Q12136"
] | [
[
"SLE",
"Lupus Erythematosus, systemic"
],
[
"AD",
"Alzheimer dementia",
"Alzheimer disease",
"Alzheimer disease, familial",
"Alzheimer's dementia",
"Alzheimers dementia"
]
] |
Q18053372-P2293 | P2293 | Q18053372 | CCNY | Q7187 | [
"CFP1",
"cyclin Y",
"C10orf9",
"CBCP1",
"CCNX"
] | [
"Q1477"
] | [
"ulcerative colitis"
] | [
"Q12136"
] | [
[
"UC",
"Colitis Ulcerative",
"hemorrhagic colitis",
"left-sided ulcerative colitis"
]
] |
Q425264-P2293 | P2293 | Q425264 | ASL | Q7187 | [
"ASAL",
"argininosuccinate lyase",
"Argininosuccinate lyase"
] | [
"Q1654860"
] | [
"argininosuccinic aciduria"
] | [
"Q12136"
] | [
[
"Argininosuccinatelyase deficiency",
"argininosuccinic acidemia",
"Argininosuccinicaciduria",
"arginosuccinase deficiency",
"ASA deficiency",
"Asl Deficiency",
"ASA",
"Arginino succinase deficiency",
"Argininosuccinase deficiency",
"Argininosuccinate acidemia",
"Argininosuccinate lyase deficiency"
]
] |
Q18046607-P2293 | P2293 | Q18046607 | CWH43 | Q7187 | [
"CWH43-C",
"PGAP2IP"
] | [
"Q154869"
] | [
"hepatitis C"
] | [
"Q12136"
] | [
[
"Viral hepatitis C",
"chronic hepatitis C",
"hep C",
"hepatitis C infection",
"hepatitis nonA nonB",
"hepatitis type C",
"NANBH",
"Non-A, Non-B Hepatitis"
]
] |
Q14863356-P2293 | P2293 | Q14863356 | INSR | Q7187 | [
"insulin receptor",
"CD220",
"HHF5"
] | [
"Q500816"
] | [
"polycystic ovary syndrome"
] | [
"Q12136"
] | [
[
"PCOS",
"Polycystic ovaries",
"Stein-Leventhal syndrome",
"Hyperandrogenemia",
"Multicystic ovaries",
"Pco1",
"PCOS1",
"Polycystic Ovarian disease",
"polysistic ovary syndrom",
"Stein-Leventhal synd."
]
] |
Q14905006-P2293 | P2293 | Q14905006 | HEXB | Q7187 | [
"hexosaminidase subunit beta",
"ENC-1AS",
"HEL-248",
"HEL-S-111"
] | [
"Q917227"
] | [
"Sandhoff disease"
] | [
"Q12136"
] | [
[
"GM2 gangliosidosis 0 variant",
"Sandhoff disease (disorder)",
"Sandhoff Disease, Adult Type",
"Sandhoff Disease, Infantile Type",
"Sandhoff Disease, Juvenile Type",
"Sandhoff Jatzkewitz disease"
]
] |
Q5173299-P2293 | P2293 | Q5173299 | CRHR2 | Q7187 | [
"corticotropin releasing hormone receptor 2",
"CRF-RB",
"CRF2",
"CRFR2",
"HM-CRF"
] | [
"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"
]
] |
Q18039883-P2293 | P2293 | Q18039883 | CDON | Q7187 | [
"cell adhesion associated, oncogene regulated",
"HPE11",
"CDON1",
"ORCAM"
] | [
"Q11081"
] | [
"Alzheimer's disease"
] | [
"Q12136"
] | [
[
"AD",
"Alzheimer dementia",
"Alzheimer disease",
"Alzheimer disease, familial",
"Alzheimer's dementia",
"Alzheimers dementia"
]
] |
Q18026074-P2293 | P2293 | Q18026074 | GLB1 | Q7187 | [
"EBP",
"ELNR1",
"galactosidase beta 1",
"MPS4B"
] | [
"Q268667"
] | [
"atopic dermatitis"
] | [
"Q12136"
] | [
[
"atopic dermatitis and related conditions",
"Allergic",
"Besnier's prurigo",
"allergic dermatitis",
"Atopic dermatitis (disorder)",
"atopic eczema",
"Atopic neurodermatitis"
]
] |
Q18044649-P2293 | P2293 | Q18044649 | G6PC2 | Q7187 | [
"IGRP"
] | [
"Q2351083"
] | [
"metabolic disease"
] | [
"Q12136"
] | [
[
"metabolic disorder",
"disease of metabolism",
"disorder of metabolic process",
"metabolic diseases",
"metabolic illness"
]
] |
Q18028260-P2293 | P2293 | Q18028260 | KIF5B | Q7187 | [
"HEL-S-61",
"kinesin family member 5B",
"KINH",
"KNS",
"KNS1",
"UKHC"
] | [
"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"
]
] |
Q17917469-P2293 | P2293 | Q17917469 | ERCC4 | Q7187 | [
"RAD1",
"excision repair cross-complementation group 4",
"XPF",
"FANCQ",
"ERCC11",
"XFEPS"
] | [
"Q596474"
] | [
"conduct disorder"
] | [
"Q12136"
] | [
[
"disruptive behavior disorder"
]
] |
Q18031497-P2293 | P2293 | Q18031497 | ST6GAL1 | Q7187 | [
"ST6GalI",
"SIAT1",
"ST6N"
] | [
"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"
]
] |
Q14864844-P2293 | P2293 | Q14864844 | DES | Q7187 | [
"CSM1",
"desmin",
"LGMD2R",
"LGMD1D",
"LGMD1E",
"CSM2",
"CDCD3",
"CMD1F"
] | [
"Q23893414",
"Q28024554"
] | [
"myofibrillar myopathy",
"dilated cardiomyopathy 1I"
] | [
"Q12136",
"Q12136"
] | [
[
"Myofibrillar Myopathies"
],
[
"CMD1I",
"dilated cardiomyopathy type 1I"
]
] |
Q18030976-P2293 | P2293 | Q18030976 | PEX2 | Q7187 | [
"peroxisomal biogenesis factor 2",
"PMP35",
"PAF1",
"PMP3",
"PBD5A",
"PBD5B",
"PXMP3",
"RNF72",
"ZWS3"
] | [
"Q51250082"
] | [
"Zellweger spectrum disorder"
] | [
"Q12136"
] | [
[
"ZSD",
"cerebrohepatorenal syndrome",
"Cerebrohepatorenal Syndrome",
"PBD-ZSD",
"PBD, ZSS",
"peroxisome biogenesis disorder",
"Peroxisome biogenesis disorder",
"Peroxisome biogenesis disorder spectrum",
"Zellweger syndrome spectrum",
"Zellweger Syndrome Spectrum",
"ZSS"
]
] |
Q14907337-P2293 | P2293 | Q14907337 | SYK | Q7187 | [
"spleen tyrosine kinase",
"p72-Syk",
"spleen associated tyrosine kinase"
] | [
"Q8277",
"Q583908",
"Q3025883"
] | [
"multiple sclerosis",
"vascular dementia",
"type 2 diabetes"
] | [
"Q12136",
"Q12136",
"Q12136"
] | [
[
"MS",
"disseminated sclerosis",
"generalised multiple sclerosis",
"generalized multiple sclerosis",
"Generalized multiple sclerosis (disorder)",
"insular sclerosis",
"Multiple sclerosis; MS"
],
[
"Dementia, Vascular",
"multifocal dementia"
],
[
"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"
]
] |
Q18035553-P2293 | P2293 | Q18035553 | EXOC5 | Q7187 | [
"exocyst complex component 5",
"PRO1912",
"SEC10",
"HSEC10",
"SEC10L1",
"SEC10P"
] | [
"Q7331102"
] | [
"alcohol abuse"
] | [
"Q12136"
] | [
[
"alcohol use disorder",
"ethanol abuse",
"harmful use of alcohol"
]
] |
Q15324395-P2293 | P2293 | Q15324395 | TRPM8 | Q7187 | [
"LTrpC-6",
"trp-p8",
"LTRPC6",
"TRPP8"
] | [
"Q133823",
"Q206901",
"Q3724157",
"Q18553762"
] | [
"migraine disorder",
"amyotrophic lateral sclerosis",
"migraine without aura",
"migraine with aura"
] | [
"Q12136",
"Q12136",
"Q12136",
"Q12136"
] | [
[
"migraine disorders",
"migraine variant",
"migraine with or without aura",
"sick headache"
],
[
"ALS",
"Charcot disease",
"Lou Gehrig disease",
"Lou Gehrig's disease",
"motor neuron disease, bulbar"
],
[
"common migraine",
"Mgoa",
"Mgr4"
],
[
"classic migraine"
]
] |
Q18041246-P2293 | P2293 | Q18041246 | HYDIN | Q7187 | [
"CILD5",
"HYDIN1",
"HYDIN2",
"PPP1R31"
] | [
"Q11088",
"Q199804"
] | [
"coeliac disease",
"chronic obstructive pulmonary disease"
] | [
"Q12136",
"Q12136"
] | [
[
"celiac disease",
"celiac sprue",
"endemic sprue",
"gluten enteropathy",
"idiopathic steatorrhea",
"nontropical sprue"
],
[
"COLD",
"COPD",
"chronic obstructive airway disease",
"Chronic Obstructive Airways Disease",
"chronic obstructive airways disease NOS",
"chronic obstructive lung disease",
"chronic obstructive lung disease disorder",
"obstructive lung disease, chronic"
]
] |
Q18041775-P2293 | P2293 | Q18041775 | NIPSNAP3B | Q7187 | [
"nipsnap homolog 3B",
"FP944",
"SNAP1"
] | [
"Q12174"
] | [
"obesity"
] | [
"Q12136"
] | [
[
"overweight",
"corpulence",
"fatness",
"over-weight",
"overfatness"
]
] |
Q18028416-P2293 | P2293 | Q18028416 | KRT86 | Q7187 | [
"keratin 86",
"HB6",
"K86",
"MNX",
"Hb1",
"hHb6",
"KRTHB1",
"KRTHB6"
] | [
"Q1363508"
] | [
"monilethrix"
] | [
"Q12136"
] | [
[
"MNLIX",
"Beaded hair",
"Moniliform hair syndrome",
"Nodose hair"
]
] |
Q18044426-P2293 | P2293 | Q18044426 | VAT1L | Q7187 | [
"vesicle amine transport 1 like"
] | [
"Q11081"
] | [
"Alzheimer's disease"
] | [
"Q12136"
] | [
[
"AD",
"Alzheimer dementia",
"Alzheimer disease",
"Alzheimer disease, familial",
"Alzheimer's dementia",
"Alzheimers dementia"
]
] |
Q18030326-P2293 | P2293 | Q18030326 | P2RY11 | Q7187 | [
"P2Y11",
"purinergic receptor P2Y11"
] | [
"Q189561"
] | [
"narcolepsy"
] | [
"Q12136"
] | [
[
"Narcolepsy, without cataplexy",
"paroxysmal sleep"
]
] |
Q18033856-P2293 | P2293 | Q18033856 | KCNQ4 | Q7187 | [
"DFNA2",
"DFNA2A",
"KV7.4",
"potassium voltage-gated channel subfamily Q member 4"
] | [
"Q9079046"
] | [
"nonsyndromic deafness"
] | [
"Q12136"
] | [
[
"Familial deafness",
"Isolated genetic deafness",
"Non-syndromic genetic deafness",
"nonsyndromic hearing loss",
"nonsyndromic hereditary hearing loss"
]
] |
Q18028844-P2293 | P2293 | Q18028844 | MAN2A2 | Q7187 | [
"MANA2X",
"mannosidase alpha class 2A member 2"
] | [
"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"
]
] |
Q18037139-P2293 | P2293 | Q18037139 | SPECC1L | Q7187 | [
"TBHS",
"GBBB2",
"CYTSA",
"OBLFC1"
] | [
"Q29982068"
] | [
"Hypertelorism, Teebi type"
] | [
"Q12136"
] | [
[
"Teebi hypertelorism syndrome",
"Teebi syndrome"
]
] |
Q18038733-P2293 | P2293 | Q18038733 | BBS9 | Q7187 | [
"B1",
"C18",
"D1",
"Bardet-Biedl syndrome 9",
"PTHB1"
] | [
"Q378183"
] | [
"craniosynostosis"
] | [
"Q12136"
] | [
[
"craniostenosis",
"craniosynostosis syndrome",
"premature closure of cranial sutures"
]
] |
Q18043105-P2293 | P2293 | Q18043105 | ARHGAP31 | Q7187 | [
"AOS1",
"Rho GTPase activating protein 31",
"CDGAP"
] | [
"Q41112"
] | [
"schizophrenia"
] | [
"Q12136"
] | [
[
"schizophrenia-1",
"dementia praecox",
"Kraepelin-Morel disease",
"Morel-Kraepelin disease"
]
] |
Q407983-P2293 | P2293 | Q407983 | ACHE | Q7187 | [
"YT",
"ACEE",
"acetylhydrolase",
"ARACHE",
"N-ACHE",
"true cholinesterase (dated synonym)"
] | [
"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"
]
] |
Q18051803-P2293 | P2293 | Q18051803 | DPY19L3 | Q7187 | [] | [
"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"
]
] |
Q18033112-P2293 | P2293 | Q18033112 | KMO | Q7187 | [
"dJ317G22.1"
] | [
"Q12174"
] | [
"obesity"
] | [
"Q12136"
] | [
[
"overweight",
"corpulence",
"fatness",
"over-weight",
"overfatness"
]
] |
Q18037036-P2293 | P2293 | Q18037036 | OTUD3 | Q7187 | [
"OTU deubiquitinase 3",
"DUBA4"
] | [
"Q1477"
] | [
"ulcerative colitis"
] | [
"Q12136"
] | [
[
"UC",
"Colitis Ulcerative",
"hemorrhagic colitis",
"left-sided ulcerative colitis"
]
] |
Q18029013-P2293 | P2293 | Q18029013 | MEIS1 | Q7187 | [
"Meis homeobox 1"
] | [
"Q916280"
] | [
"restless legs syndrome"
] | [
"Q12136"
] | [
[
"WED",
"RLS",
"Restless Leg Syndrome",
"Willis-Ekbom disease",
"Wittmaack-Ekbom syndrome"
]
] |
Q18034037-P2293 | P2293 | Q18034037 | NRXN3 | Q7187 | [
"C14orf60",
"neurexin 3"
] | [
"Q12174",
"Q206901"
] | [
"obesity",
"amyotrophic lateral sclerosis"
] | [
"Q12136",
"Q12136"
] | [
[
"overweight",
"corpulence",
"fatness",
"over-weight",
"overfatness"
],
[
"ALS",
"Charcot disease",
"Lou Gehrig disease",
"Lou Gehrig's disease",
"motor neuron disease, bulbar"
]
] |
Q18028496-P2293 | P2293 | Q18028496 | LCT | Q7187 | [
"LAC",
"LPH",
"lactase",
"LPH1"
] | [
"Q3043135"
] | [
"congenital lactase deficiency"
] | [
"Q12136"
] | [
[
"CLD",
"Alactasia, Congenital",
"COLACD",
"congenital alactasia",
"Disaccharide Intolerance 2"
]
] |
Q18034943-P2293 | P2293 | Q18034943 | AKT3 | Q7187 | [
"RAC-PK-gamma",
"MPPH",
"MPPH2",
"PKB-GAMMA",
"PKBG",
"PRKBG",
"RAC-gamma",
"STK-2"
] | [
"Q202387"
] | [
"post-traumatic stress disorder"
] | [
"Q12136"
] | [
[
"PTSD",
"battle fatigue",
"post traumatic stress disorder",
"shell shock",
"shellshock",
"thousand-mile stare",
"traumatic neurosis"
]
] |
Q21163221-P2293 | P2293 | Q21163221 | INS | Q7187 | [
"insulin",
"IDDM2",
"IDDM",
"ILPR",
"IDDM1",
"IRDN",
"MODY10",
"PNDM4"
] | [
"Q17143640",
"Q55785854"
] | [
"permanent neonatal diabetes mellitus",
"rare genetic diabetes mellitus"
] | [
"Q12136",
"Q12136"
] | [
[
"Monogenic diabetes of infancy",
"PDMI",
"permanent diabetes mellitus of infancy",
"PNDM"
],
[]
] |
Q20970130-P2293 | P2293 | Q20970130 | SP4 | Q7187 | [
"Sp4 transcription factor",
"SPR-1",
"HF1B"
] | [
"Q42844",
"Q55950055"
] | [
"major depressive disorders",
"unipolar depression"
] | [
"Q12136",
"Q12136"
] | [
[
"MDD",
"depression",
"clinical depression",
"major depression",
"major depression disorder",
"recurrent depressive disorder",
"recurrent major depression",
"recurrent major depression in complete remission",
"single major depressive episode",
"unipolar depression",
"unipolar disorder"
],
[
"Major Depression"
]
] |