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---|---|---|---|---|---|---|---|---|---|
Q18049078-P2293 | P2293 | Q18049078 | MYSM1 | Q7187 | [
"2A-DUB",
"2ADUB",
"BMFS4"
] | [
"Q631361"
] | [
"diabetic retinopathy"
] | [
"Q12136"
] | [
[
"diabetic eye disease",
"diabetic oculopathy",
"retinal abnormality - diabetes-related"
]
] |
Q18035072-P2293 | P2293 | Q18035072 | MBNL2 | Q7187 | [
"MBLL",
"MBLL39",
"muscleblind like splicing regulator 2",
"PRO2032"
] | [
"Q7331102"
] | [
"alcohol abuse"
] | [
"Q12136"
] | [
[
"alcohol use disorder",
"ethanol abuse",
"harmful use of alcohol"
]
] |
Q18028586-P2293 | P2293 | Q18028586 | FADS1 | Q7187 | [
"fatty acid desaturase 1",
"FADS6",
"D5D",
"FADSD5",
"LLCDL1",
"TU12"
] | [
"Q2351083"
] | [
"metabolic disease"
] | [
"Q12136"
] | [
[
"metabolic disorder",
"disease of metabolism",
"disorder of metabolic process",
"metabolic diseases",
"metabolic illness"
]
] |
Q18049053-P2293 | P2293 | Q18049053 | CSMD2 | Q7187 | [
"CUB and Sushi multiple domains 2",
"dJ1007G16.1",
"dJ1007G16.2",
"dJ947L8.1"
] | [
"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"
]
] |
Q17853626-P2293 | P2293 | Q17853626 | BST1 | Q7187 | [
"bone marrow stromal cell antigen 1",
"CD157"
] | [
"Q11085"
] | [
"Parkinson's disease"
] | [
"Q12136"
] | [
[
"Parkinson disease",
"paralysis agitans",
"parkinsonismus idiopathicus"
]
] |
Q18041305-P2293 | P2293 | Q18041305 | SIDT1 | Q7187 | [
"B830021E24Rik",
"SID-1",
"SID1",
"SID1 transmembrane family member 1"
] | [
"Q133772"
] | [
"dental caries"
] | [
"Q12136"
] | [
[
"cavities",
"dental caries extending into pulp",
"dental caries of smooth surface",
"dental caries pit and fissure",
"tooth decay"
]
] |
Q18043075-P2293 | P2293 | Q18043075 | RNF150 | Q7187 | [
"ring finger protein 150"
] | [
"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"
]
] |
Q18026193-P2293 | P2293 | Q18026193 | GM2A | Q7187 | [
"GM2 ganglioside activator",
"GM2-AP",
"SAP-3"
] | [
"Q5513688"
] | [
"Tay-Sachs disease AB variant"
] | [
"Q12136"
] | [
[
"Gm2 Activator Deficiency",
"GM2 gangliosidosis, AB variant",
"GM2-gangliosidosis variant AB",
"Hexosaminidase activator deficiency",
"Tay-Sachs disease, variant AB"
]
] |
Q18040371-P2293 | P2293 | Q18040371 | ZC3HC1 | Q7187 | [
"NIPA",
"HSPC216",
"zinc finger C3HC-type containing 1"
] | [
"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"
]
] |
Q18032010-P2293 | P2293 | Q18032010 | TLL1 | Q7187 | [
"ASD6",
"tolloid like 1"
] | [
"Q8277",
"Q202387"
] | [
"multiple sclerosis",
"post-traumatic stress disorder"
] | [
"Q12136",
"Q12136"
] | [
[
"MS",
"disseminated sclerosis",
"generalised multiple sclerosis",
"generalized multiple sclerosis",
"Generalized multiple sclerosis (disorder)",
"insular sclerosis",
"Multiple sclerosis; MS"
],
[
"PTSD",
"battle fatigue",
"post traumatic stress disorder",
"shell shock",
"shellshock",
"thousand-mile stare",
"traumatic neurosis"
]
] |
Q18053861-P2293 | P2293 | Q18053861 | WDR72 | Q7187 | [
"AI2A3",
"WD repeat domain 72"
] | [
"Q1054718"
] | [
"kidney disease"
] | [
"Q12136"
] | [
[
"renal disease",
"disease of kidney",
"disorder of kidney",
"kidney damage",
"kidney diseases",
"kidney injury",
"kidney necrosis",
"nephron damage",
"nephropathy"
]
] |
Q18036729-P2293 | P2293 | Q18036729 | RAP1GAP2 | Q7187 | [
"RAP1 GTPase activating protein 2",
"GARNL4",
"RAP1GA3"
] | [
"Q35869"
] | [
"asthma"
] | [
"Q12136"
] | [
[
"exercise-induced asthma",
"Exercise induced asthma",
"asthma brionchiole",
"bronchial hyperreactivity",
"chronic obstructive asthma"
]
] |
Q17816452-P2293 | P2293 | Q17816452 | AKT1 | Q7187 | [
"PKB",
"RAC",
"CWS6",
"PKB-ALPHA",
"PRKBA",
"RAC-ALPHA"
] | [
"Q128581",
"Q188874",
"Q281115",
"Q1138188"
] | [
"breast cancer",
"colorectal cancer",
"Proteus syndrome",
"Cowden syndrome 1"
] | [
"Q12136",
"Q12136",
"Q12136",
"Q12136"
] | [
[
"breast disorder",
"malignant neoplasm of breast",
"malignant tumor of the breast",
"mammary cancer",
"primary breast cancer"
],
[
"bowel cancer",
"colon and rectal cancer",
"colon cancer",
"Colorectal cancer, familial",
"large intestine cancer"
],
[
"Elattoproteus Syndrome",
"Wiedemann's syndrome"
],
[
"Lhermitte-Duclos disease",
"Multiple hamartoma syndrome",
"Cowden's disease",
"Cowden disease"
]
] |
Q18031521-P2293 | P2293 | Q18031521 | SLC1A2 | Q7187 | [
"EAAT2",
"EIEE41",
"GLT-1",
"HBGT",
"solute carrier family 1 member 2"
] | [
"Q693519"
] | [
"essential tremor"
] | [
"Q12136"
] | [
[
"ET",
"benign essential tremor",
"benign tremor",
"essential hereditary tremor",
"familiar tremor",
"shaky hand syndrome"
]
] |
Q18051437-P2293 | P2293 | Q18051437 | OTOA | Q7187 | [
"CT108",
"DFNB22",
"otoancorin"
] | [
"Q9079046"
] | [
"nonsyndromic deafness"
] | [
"Q12136"
] | [
[
"Familial deafness",
"Isolated genetic deafness",
"Non-syndromic genetic deafness",
"nonsyndromic hearing loss",
"nonsyndromic hereditary hearing loss"
]
] |
Q18046751-P2293 | P2293 | Q18046751 | THSD7B | Q7187 | [] | [
"Q1549421",
"Q3658562"
] | [
"tooth agenesis",
"non-small-cell lung carcinoma"
] | [
"Q12136",
"Q12136"
] | [
[
"selective tooth agenesis",
"familial tooth agenesis",
"hypodontia",
"oligodontia"
],
[
"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"
]
] |
Q14908148-P2293 | P2293 | Q14908148 | EPB41 | Q7187 | [
"HE",
"4.1R",
"EL1"
] | [
"Q206901"
] | [
"amyotrophic lateral sclerosis"
] | [
"Q12136"
] | [
[
"ALS",
"Charcot disease",
"Lou Gehrig disease",
"Lou Gehrig's disease",
"motor neuron disease, bulbar"
]
] |
Q18032340-P2293 | P2293 | Q18032340 | VSNL1 | Q7187 | [
"HLP3",
"HPCAL3",
"HUVISL1",
"VILIP",
"VILIP-1",
"visinin like 1"
] | [
"Q11081"
] | [
"Alzheimer's disease"
] | [
"Q12136"
] | [
[
"AD",
"Alzheimer dementia",
"Alzheimer disease",
"Alzheimer disease, familial",
"Alzheimer's dementia",
"Alzheimers dementia"
]
] |
Q14911717-P2293 | P2293 | Q14911717 | MSH6 | Q7187 | [
"GTBP",
"GTMBP",
"HNPCC5",
"HSAP",
"mutS homolog 6",
"p160"
] | [
"Q188874",
"Q736633",
"Q783644"
] | [
"colorectal cancer",
"Mismatch repair cancer syndrome",
"Lynch syndrome"
] | [
"Q12136",
"Q12136",
"Q12136"
] | [
[
"bowel cancer",
"colon and rectal cancer",
"colon cancer",
"Colorectal cancer, familial",
"large intestine cancer"
],
[
"Btp1 Syndrome",
"Childhood Cancer Syndrome",
"CMMR-D",
"CMMR-D syndrome",
"Mismatch Repair Deficiency",
"Mmr Deficiency",
"MMRCS",
"Turcot syndrome"
],
[
"HNPCC",
"COCA 1",
"hereditary nonpolyposis colon cancer",
"hereditary nonpolyposis colorectal cancer"
]
] |
Q18033452-P2293 | P2293 | Q18033452 | INPP4B | Q7187 | [] | [
"Q206901"
] | [
"amyotrophic lateral sclerosis"
] | [
"Q12136"
] | [
[
"ALS",
"Charcot disease",
"Lou Gehrig disease",
"Lou Gehrig's disease",
"motor neuron disease, bulbar"
]
] |
Q18043159-P2293 | P2293 | Q18043159 | DOCK6 | Q7187 | [
"AOS2",
"dedicator of cytokinesis 6",
"ZIR1"
] | [
"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"
]
] |
Q18030852-P2293 | P2293 | Q18030852 | PSMA4 | Q7187 | [
"proteasome subunit alpha 4",
"HC9",
"HsT17706",
"proteasome 20S subunit alpha 4",
"PSC9"
] | [
"Q187255"
] | [
"rheumatoid arthritis"
] | [
"Q12136"
] | [
[
"atrophic Arthritis",
"Malignant rheumatoid arthritis"
]
] |
Q18046775-P2293 | P2293 | Q18046775 | NDFIP1 | Q7187 | [
"N4WBP5",
"Nedd4 family interacting protein 1"
] | [
"Q8277"
] | [
"multiple sclerosis"
] | [
"Q12136"
] | [
[
"MS",
"disseminated sclerosis",
"generalised multiple sclerosis",
"generalized multiple sclerosis",
"Generalized multiple sclerosis (disorder)",
"insular sclerosis",
"Multiple sclerosis; MS"
]
] |
Q18032004-P2293 | P2293 | Q18032004 | TKT | Q7187 | [
"transketolase",
"HEL-S-48",
"HEL107",
"SDDHD",
"TKT1"
] | [
"Q55785079"
] | [
"transketolase deficiency"
] | [
"Q12136"
] | [
[
"TKT deficiency"
]
] |
Q5145894-P2293 | P2293 | Q5145894 | COL11A1 | Q7187 | [
"CO11A1",
"COLL6",
"collagen type XI alpha 1",
"collagen type XI alpha 1 chain",
"collagen, type XI, alpha 1",
"DFNA37",
"STL2"
] | [
"Q3071315",
"Q6773846",
"Q12640426"
] | [
"fibrochondrogenesis",
"Marshall syndrome",
"primary open angle glaucoma"
] | [
"Q12136",
"Q12136",
"Q12136"
] | [
[
"FBCG1",
"Fibrochondrogenesis type 1"
],
[
"MRSHS"
],
[
"chronic simple glaucoma"
]
] |
Q18037778-P2293 | P2293 | Q18037778 | INTS7 | Q7187 | [
"integrator complex subunit 7",
"C1orf73",
"INT7"
] | [
"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"
]
] |
Q14890468-P2293 | P2293 | Q14890468 | APOE | Q7187 | [
"AD2",
"apolipoprotein E",
"LDLCQ5",
"LPG",
"ApoE4"
] | [
"Q11081",
"Q431643",
"Q18556319"
] | [
"Alzheimer's disease",
"microcephaly",
"sea-blue histiocyte syndrome"
] | [
"Q12136",
"Q12136",
"Q12136"
] | [
[
"AD",
"Alzheimer dementia",
"Alzheimer disease",
"Alzheimer disease, familial",
"Alzheimer's dementia",
"Alzheimers dementia"
],
[
"Microcephalus",
"microencephaly"
],
[
"Histiocytosis, Sea-Blue",
"Sea-Blue Histiocytosis"
]
] |
Q18032890-P2293 | P2293 | Q18032890 | PLA2G6 | Q7187 | [
"GVI",
"PNPLA9",
"PARK14",
"INAD1",
"iPLA2",
"iPLA2beta",
"CaI-PLA2",
"IPLA2-VIA",
"NBIA2",
"NBIA2A",
"NBIA2B",
"phospholipase A2 group VI"
] | [
"Q180614"
] | [
"melanoma"
] | [
"Q12136"
] | [
[
"malignant melanoma",
"Naevocarcinom",
"Naevocarcinoma"
]
] |
Q3195074-P2293 | P2293 | Q3195074 | GCDH | Q7187 | [
"ACAD5"
] | [
"Q2140501"
] | [
"glutaric aciduria type 1"
] | [
"Q12136"
] | [
[
"GA1",
"Ga 1",
"GCDHD",
"glutaric academia type 1",
"glutaric acidemia I",
"GLUTARIC ACIDEMIA I",
"glutaric acidemia type 1",
"glutaric aciduria 1",
"Glutaric Aciduria 1",
"glutaric aciduria type I"
]
] |
Q18035049-P2293 | P2293 | Q18035049 | RASGRP1 | Q7187 | [
"CALDAG-GEFI",
"CALDAG-GEFII",
"hRasGRP1",
"IMD64",
"RAS guanyl releasing protein 1"
] | [
"Q124407",
"Q187255",
"Q3025883"
] | [
"type-1 diabetes",
"rheumatoid arthritis",
"type 2 diabetes"
] | [
"Q12136",
"Q12136",
"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"
],
[
"atrophic Arthritis",
"Malignant rheumatoid arthritis"
],
[
"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"
]
] |
Q18038769-P2293 | P2293 | Q18038769 | ZNF544 | Q7187 | [
"zinc finger protein 544"
] | [
"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"
]
] |
Q14907256-P2293 | P2293 | Q14907256 | SDHA | Q7187 | [
"FP",
"SDH2",
"SDHF",
"SDH1",
"CMD1GG",
"PGL5"
] | [
"Q23542368"
] | [
"mitochondrial complex II deficiency"
] | [
"Q12136"
] | [
[
"Complex 2 mitochondrial respiratory chain deficiency",
"isolated mitochondrial respiratory chain complex II deficiency",
"Mitochondrial respiratory chain complex II deficiency",
"Succinate Coq Reductase Deficiency",
"Succinate dehydrogenase deficiency"
]
] |
Q18026947-P2293 | P2293 | Q18026947 | HLA-DQA1 | Q7187 | [
"CD",
"GSE",
"CELIAC1"
] | [
"Q1485",
"Q11088",
"Q35869",
"Q1088156"
] | [
"systemic lupus erythematosus",
"coeliac disease",
"asthma",
"chronic lymphocytic leukemia"
] | [
"Q12136",
"Q12136",
"Q12136",
"Q12136"
] | [
[
"SLE",
"Lupus Erythematosus, systemic"
],
[
"celiac disease",
"celiac sprue",
"endemic sprue",
"gluten enteropathy",
"idiopathic steatorrhea",
"nontropical sprue"
],
[
"exercise-induced asthma",
"Exercise induced asthma",
"asthma brionchiole",
"bronchial hyperreactivity",
"chronic obstructive asthma"
],
[
"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"
]
] |
Q18048560-P2293 | P2293 | Q18048560 | ZNF804A | Q7187 | [
"zinc finger protein 804A",
"C2orf10"
] | [
"Q41112"
] | [
"schizophrenia"
] | [
"Q12136"
] | [
[
"schizophrenia-1",
"dementia praecox",
"Kraepelin-Morel disease",
"Morel-Kraepelin disease"
]
] |
Q18034698-P2293 | P2293 | Q18034698 | GIT2 | Q7187 | [
"CAT-2",
"CAT2",
"GIT ArfGAP 2",
"PKL"
] | [
"Q2351083"
] | [
"metabolic disease"
] | [
"Q12136"
] | [
[
"metabolic disorder",
"disease of metabolism",
"disorder of metabolic process",
"metabolic diseases",
"metabolic illness"
]
] |
Q18046243-P2293 | P2293 | Q18046243 | DYNC2H1 | Q7187 | [
"ATD3",
"SRPS2B",
"SRTD3",
"DHC1b",
"DHC2",
"DNCH2",
"DYH1B",
"hdhc11"
] | [
"Q12204"
] | [
"tuberculosis"
] | [
"Q12136"
] | [
[
"TB",
"consumption",
"hydrothorax",
"In the clinic. Tuberculosis",
"phthisis",
"phthisis pulmonalis"
]
] |
Q18054393-P2293 | P2293 | Q18054393 | RNF149 | Q7187 | [
"ring finger protein 149",
"DNAPTP2"
] | [
"Q212961"
] | [
"pancreatic cancer"
] | [
"Q12136"
] | [
[
"Ca body of pancreas",
"Ca head of pancreas",
"Ca tail of pancreas"
]
] |
Q18061320-P2293 | P2293 | Q18061320 | FAM155A | Q7187 | [
"family with sequence similarity 155 member A"
] | [
"Q131749"
] | [
"anorexia nervosa"
] | [
"Q12136"
] | [
[
"anorexia nerviosa",
"size 0"
]
] |
Q18030602-P2293 | P2293 | Q18030602 | PLS3 | Q7187 | [
"BMND18",
"T-plastin",
"plastin 3"
] | [
"Q165328"
] | [
"osteoporosis"
] | [
"Q12136"
] | [
[
"bone loss"
]
] |
Q18034873-P2293 | P2293 | Q18034873 | RABGAP1L | Q7187 | [
"HHL",
"RAB GTPase activating protein 1 like",
"TBC1D18"
] | [
"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"
]
] |
Q18037642-P2293 | P2293 | Q18037642 | BRD1 | Q7187 | [
"BRL",
"bromodomain containing 1",
"BRPF1",
"BRPF2"
] | [
"Q41112"
] | [
"schizophrenia"
] | [
"Q12136"
] | [
[
"schizophrenia-1",
"dementia praecox",
"Kraepelin-Morel disease",
"Morel-Kraepelin disease"
]
] |
Q18056631-P2293 | P2293 | Q18056631 | GRXCR1 | Q7187 | [
"DFNB25",
"PPP1R88"
] | [
"Q9079046"
] | [
"nonsyndromic deafness"
] | [
"Q12136"
] | [
[
"Familial deafness",
"Isolated genetic deafness",
"Non-syndromic genetic deafness",
"nonsyndromic hearing loss",
"nonsyndromic hereditary hearing loss"
]
] |
Q18026487-P2293 | P2293 | Q18026487 | GRIA4 | Q7187 | [
"GluA4",
"GLUR4",
"GLUR4C",
"GLURD",
"NEDSGA"
] | [
"Q470427"
] | [
"refractive error"
] | [
"Q12136"
] | [
[
"refraction or accommodation disorder",
"Abnormality of refraction",
"ametropia",
"disorder of refraction",
"eye refraction disorder",
"refraction error",
"refractive disorder",
"Refractive errors"
]
] |
Q18027872-P2293 | P2293 | Q18027872 | IL12B | Q7187 | [
"CLMF",
"IMD28",
"NKSF2",
"CLMF2",
"IMD29",
"Interleukin 12 subunit beta",
"interleukin 12B",
"NKSF"
] | [
"Q179945"
] | [
"psoriasis"
] | [
"Q12136"
] | [
[]
] |
Q14860336-P2293 | P2293 | Q14860336 | NSF | Q7187 | [
"SEC18",
"N-ethylmaleimide sensitive factor",
"SKD2"
] | [
"Q11085"
] | [
"Parkinson's disease"
] | [
"Q12136"
] | [
[
"Parkinson disease",
"paralysis agitans",
"parkinsonismus idiopathicus"
]
] |
Q15330556-P2293 | P2293 | Q15330556 | GJA1 | Q7187 | [
"HSS",
"AVSD3",
"CMDR",
"CX43",
"EKVP",
"EKVP3",
"gap junction protein alpha 1",
"GJAL",
"HLHS1",
"ODDD",
"PPKCA"
] | [
"Q17148148"
] | [
"odontoonychodermal syndrome"
] | [
"Q12136"
] | [
[
"OODD syndrome"
]
] |
Q18032353-P2293 | P2293 | Q18032353 | WFS1 | Q7187 | [
"CTRCT41",
"WFSL",
"WFRS"
] | [
"Q1153641",
"Q3025883"
] | [
"Wolfram syndrome",
"type 2 diabetes"
] | [
"Q12136",
"Q12136"
] | [
[
"DIDMOAD",
"WFS",
"DIDMOAD syndrome"
],
[
"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"
]
] |
Q14914217-P2293 | P2293 | Q14914217 | SRR | Q7187 | [
"ISO1",
"serine racemase",
"ILV1"
] | [
"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"
]
] |
Q18030942-P2293 | P2293 | Q18030942 | PTPRF | Q7187 | [
"LAR",
"BNAH2"
] | [
"Q206901"
] | [
"amyotrophic lateral sclerosis"
] | [
"Q12136"
] | [
[
"ALS",
"Charcot disease",
"Lou Gehrig disease",
"Lou Gehrig's disease",
"motor neuron disease, bulbar"
]
] |
Q4654809-P2293 | P2293 | Q4654809 | ATP2B1 | Q7187 | [
"ATPase plasma membrane Ca2+ transporting 1",
"PMCA1",
"PMCA1kb"
] | [
"Q41861",
"Q844935"
] | [
"arterial hypertension",
"coronary artery disease"
] | [
"Q12136",
"Q12136"
] | [
[
"\"the silent killer\"",
"high blood pressure"
],
[
"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"
]
] |
Q14907505-P2293 | P2293 | Q14907505 | CD80 | Q7187 | [
"BB1",
"B7",
"B7-1",
"B7.1",
"CD28LG",
"CD28LG1",
"CD80 molecule",
"LAB7"
] | [
"Q1485"
] | [
"systemic lupus erythematosus"
] | [
"Q12136"
] | [
[
"SLE",
"Lupus Erythematosus, systemic"
]
] |
Q17832572-P2293 | P2293 | Q17832572 | ZFHX3 | Q7187 | [
"ATBF1",
"ATBT",
"zinc finger homeobox 3",
"ZNF927"
] | [
"Q12202",
"Q265936",
"Q844935",
"Q3010352"
] | [
"stroke",
"Kawasaki disease",
"coronary artery disease",
"cerebrovascular disease"
] | [
"Q12136",
"Q12136",
"Q12136",
"Q12136"
] | [
[
"CVA",
"cerebrovascular accident",
"cerebrovascular disorder",
"brain attack",
"cerebral vascular accident",
"cerebrovascular insult",
"CVI",
"embolic stroke"
],
[
"Kd",
"Kawasaki's disease",
"acute febrile MCLS",
"Infantile Polyarteritis",
"Infantile Polyarteritis Nodosa",
"Kawasaki disease, KD",
"MLNS",
"mucocutaneous lymph node syndrome"
],
[
"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"
],
[
"CVA",
"cerebrovascular accident",
"Cerebrovascular accident (disorder)",
"cerebrovascular disorder",
"cerebrovascular disorders",
"CVA (cerebral vascular accident)"
]
] |
Q18047679-P2293 | P2293 | Q18047679 | KIRREL3 | Q7187 | [
"MRD4",
"Kin of IRRE-like protein 3",
"NEPH2",
"PRO4502"
] | [
"Q181923",
"Q596474"
] | [
"attention deficit hyperactivity disorder",
"conduct disorder"
] | [
"Q12136",
"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"
],
[
"disruptive behavior disorder"
]
] |
Q18037086-P2293 | P2293 | Q18037086 | CUX2 | Q7187 | [
"CDP2",
"cut like homeobox 2",
"CUTL2",
"EIEE67"
] | [
"Q124407",
"Q844935"
] | [
"type-1 diabetes",
"coronary artery disease"
] | [
"Q12136",
"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"
],
[
"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"
]
] |
Q21163344-P2293 | P2293 | Q21163344 | ABCB1 | Q7187 | [
"CLCS",
"MDR1",
"ATP binding cassette subfamily B member 1",
"PGY1",
"ABC20",
"CD243",
"GP170",
"P-GP"
] | [
"Q32144400"
] | [
"inflammatory bowel disease 13"
] | [
"Q12136"
] | [
[
"IBD13",
"Inflammatory Bowel Disease type 13"
]
] |
Q18051076-P2293 | P2293 | Q18051076 | PSMA8 | Q7187 | [
"proteasome subunit alpha 8",
"proteasome 20S subunit alpha 8",
"PSMA7L"
] | [
"Q520127"
] | [
"periodontitis"
] | [
"Q12136"
] | [
[
"chronic pericementitis",
"periodontium inflammation",
"periodontiumitis",
"pyorrhea"
]
] |
Q18046549-P2293 | P2293 | Q18046549 | SEMA6D | Q7187 | [
"semaphorin 6D"
] | [
"Q373822",
"Q844935"
] | [
"eating disorder",
"coronary artery disease"
] | [
"Q12136",
"Q12136"
] | [
[
"ED",
"feeding and eating disorders",
"feeding disorder"
],
[
"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"
]
] |
Q18033398-P2293 | P2293 | Q18033398 | PEX11B | Q7187 | [
"peroxisomal biogenesis factor 11 beta",
"PEX14B",
"PEX11-BETA"
] | [
"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"
]
] |
Q18030218-P2293 | P2293 | Q18030218 | NRF1 | Q7187 | [
"ALPHA-PAL",
"nuclear respiratory factor 1"
] | [
"Q12174"
] | [
"obesity"
] | [
"Q12136"
] | [
[
"overweight",
"corpulence",
"fatness",
"over-weight",
"overfatness"
]
] |
Q14864162-P2293 | P2293 | Q14864162 | KRT3 | Q7187 | [
"K3",
"CK3",
"keratin 3",
"MECD2"
] | [
"Q4162392"
] | [
"Meesmann corneal dystrophy"
] | [
"Q12136"
] | [
[
"MECD",
"juvenile hereditary epithelial dystrophy",
"Meesman dystrophy",
"Stocker-Holt dystrophy"
]
] |
Q18028607-P2293 | P2293 | Q18028607 | LMO1 | Q7187 | [
"TTG1",
"LIM domain only 1",
"RBTN1",
"RHOM1"
] | [
"Q938205",
"Q7331102"
] | [
"neuroblastoma",
"alcohol abuse"
] | [
"Q12136",
"Q12136"
] | [
[
"NB"
],
[
"alcohol use disorder",
"ethanol abuse",
"harmful use of alcohol"
]
] |
Q18027370-P2293 | P2293 | Q18027370 | IGSF3 | Q7187 | [
"V8",
"EWI-3",
"LCDD"
] | [
"Q35869"
] | [
"asthma"
] | [
"Q12136"
] | [
[
"exercise-induced asthma",
"Exercise induced asthma",
"asthma brionchiole",
"bronchial hyperreactivity",
"chronic obstructive asthma"
]
] |
Q18030967-P2293 | P2293 | Q18030967 | NECTIN2 | Q7187 | [
"nectin cell adhesion molecule 2",
"PRR2",
"CD112",
"HVEB",
"PVRL2",
"PVRR2"
] | [
"Q11081",
"Q830308"
] | [
"Alzheimer's disease",
"age related macular degeneration"
] | [
"Q12136",
"Q12136"
] | [
[
"AD",
"Alzheimer dementia",
"Alzheimer disease",
"Alzheimer disease, familial",
"Alzheimer's dementia",
"Alzheimers dementia"
],
[
"AMD",
"Age Related Maculopathies",
"Age Related Maculopathy",
"age-related macular degeneration",
"senile macular degeneration"
]
] |
Q18026941-P2293 | P2293 | Q18026941 | HLA-DPB1 | Q7187 | [
"HLA-DP1B"
] | [
"Q6853"
] | [
"hepatitis B"
] | [
"Q12136"
] | [
[
"hepatitis B infection",
"hepatitis type B",
"serum hepatitis",
"Viral Hepatitis B"
]
] |
Q18028073-P2293 | P2293 | Q18028073 | ITPR1 | Q7187 | [
"ACV",
"CLA4",
"INSP3R1",
"IP3R",
"IP3R1",
"PPP1R94",
"SCA15",
"SCA16",
"SCA29"
] | [
"Q12174",
"Q5562120"
] | [
"obesity",
"Gillespie syndrome"
] | [
"Q12136",
"Q12136"
] | [
[
"overweight",
"corpulence",
"fatness",
"over-weight",
"overfatness"
],
[]
] |
Q18030335-P2293 | P2293 | Q18030335 | PCSK6 | Q7187 | [
"PACE4",
"SPC4"
] | [
"Q132971"
] | [
"dyslexia"
] | [
"Q12136"
] | [
[
"reading/writing disorder"
]
] |
Q18016430-P2293 | P2293 | Q18016430 | ALOX12 | Q7187 | [
"12-LOX",
"12S-LOX",
"LOG12"
] | [
"Q188874"
] | [
"colorectal cancer"
] | [
"Q12136"
] | [
[
"bowel cancer",
"colon and rectal cancer",
"colon cancer",
"Colorectal cancer, familial",
"large intestine cancer"
]
] |
Q18035148-P2293 | P2293 | Q18035148 | RASGRP2 | Q7187 | [
"CALDAG-GEFI",
"RAS guanyl releasing protein 2",
"CDC25L"
] | [
"Q32146531"
] | [
"platelet-type bleeding disorder 18"
] | [
"Q12136"
] | [
[
"BDPLT18"
]
] |
Q18051831-P2293 | P2293 | Q18051831 | SYT6 | Q7187 | [
"sytVI",
"synaptotagmin 6"
] | [
"Q128581"
] | [
"breast cancer"
] | [
"Q12136"
] | [
[
"breast disorder",
"malignant neoplasm of breast",
"malignant tumor of the breast",
"mammary cancer",
"primary breast cancer"
]
] |
Q4050587-P2293 | P2293 | Q4050587 | TICAM1 | Q7187 | [
"IIAE6",
"MyD88-3",
"PRVTIRB",
"toll like receptor adaptor molecule 1",
"TRIF"
] | [
"Q180152"
] | [
"vitiligo"
] | [
"Q12136"
] | [
[
"leukoderma",
"leucoderma"
]
] |
Q17914420-P2293 | P2293 | Q17914420 | DPP6 | Q7187 | [
"DPPX",
"DPL1",
"MRD33",
"dipeptidyl peptidase like 6",
"VF2"
] | [
"Q188874",
"Q202387",
"Q206901",
"Q212961"
] | [
"colorectal cancer",
"post-traumatic stress disorder",
"amyotrophic lateral sclerosis",
"pancreatic cancer"
] | [
"Q12136",
"Q12136",
"Q12136",
"Q12136"
] | [
[
"bowel cancer",
"colon and rectal cancer",
"colon cancer",
"Colorectal cancer, familial",
"large intestine cancer"
],
[
"PTSD",
"battle fatigue",
"post traumatic stress disorder",
"shell shock",
"shellshock",
"thousand-mile stare",
"traumatic neurosis"
],
[
"ALS",
"Charcot disease",
"Lou Gehrig disease",
"Lou Gehrig's disease",
"motor neuron disease, bulbar"
],
[
"Ca body of pancreas",
"Ca head of pancreas",
"Ca tail of pancreas"
]
] |
Q18040030-P2293 | P2293 | Q18040030 | PHF11 | Q7187 | [
"BCAP",
"PHD finger protein 11",
"APY",
"IGEL",
"IGER",
"IGHER",
"NY-REN-34",
"NYREN34"
] | [
"Q1364270"
] | [
"hypertrophic cardiomyopathy"
] | [
"Q12136"
] | [
[
"HCM",
"Cardiomyopathy, Hypertrophic",
"hypertrophic heart disease"
]
] |
Q18042335-P2293 | P2293 | Q18042335 | BTNL2 | Q7187 | [
"SS2",
"BTL-II",
"BTN7",
"butyrophilin like 2",
"HSBLMHC1"
] | [
"Q1477",
"Q8277",
"Q147778",
"Q154869",
"Q193894",
"Q843799"
] | [
"ulcerative colitis",
"multiple sclerosis",
"liver cirrhosis",
"hepatitis C",
"sarcoidosis",
"adenocarcinoma of the lung"
] | [
"Q12136",
"Q12136",
"Q12136",
"Q12136",
"Q12136",
"Q12136"
] | [
[
"UC",
"Colitis Ulcerative",
"hemorrhagic colitis",
"left-sided ulcerative colitis"
],
[
"MS",
"disseminated sclerosis",
"generalised multiple sclerosis",
"generalized multiple sclerosis",
"Generalized multiple sclerosis (disorder)",
"insular sclerosis",
"Multiple sclerosis; MS"
],
[
"cirrhosis of liver",
"cirrhosis of the liver"
],
[
"Viral hepatitis C",
"chronic hepatitis C",
"hep C",
"hepatitis C infection",
"hepatitis nonA nonB",
"hepatitis type C",
"NANBH",
"Non-A, Non-B Hepatitis"
],
[
"benign lymphogranulomatosis",
"Boeck sarcoid",
"lymphogranulomatosis"
],
[
"bronchogenic lung adenocarcinoma",
"lung adenocarcinoma",
"non-small cell lung adenocarcinoma",
"nonsmall cell adenocarcinoma",
"pulmonary adenocarcinoma"
]
] |
Q17928401-P2293 | P2293 | Q17928401 | FHL1 | Q7187 | [
"four and a half LIM domains 1",
"SLIM1",
"SLIM",
"KYOT",
"SLIM-1",
"SLIMMER",
"FCMSU",
"FHL1A",
"FHL1B",
"FLH1A",
"RBMX1A",
"RBMX1B",
"XMPMA"
] | [
"Q21505518"
] | [
"reducing body myopathy"
] | [
"Q12136"
] | [
[
"reducing body myopathy 1A"
]
] |
Q18027833-P2293 | P2293 | Q18027833 | IL5RA | Q7187 | [
"CD125",
"CDw125",
"HSIL5R3",
"Interleukin 5 receptor alpha subunit",
"interleukin 5 receptor subunit alpha"
] | [
"Q12214"
] | [
"smallpox"
] | [
"Q12136"
] | [
[
"ordinary smallpox",
"variola",
"variola vera"
]
] |
Q18041001-P2293 | P2293 | Q18041001 | SEMA5B | Q7187 | [
"semaphorin 5B",
"SemG",
"SEMAG"
] | [
"Q372701"
] | [
"esophageal cancer"
] | [
"Q12136"
] | [
[
"abdominal part of esophagus cancer",
"Ca lower third oesophagus",
"Ca middle third oesophagus",
"cancer of abdominal part of esophagus",
"cancer of the oesophagus",
"esophagus cancer",
"malignant tumor of abdominal esophagus",
"oesophageal cancer"
]
] |
Q5514164-P2293 | P2293 | Q5514164 | GPD1L | Q7187 | [] | [
"Q27677683"
] | [
"Brugada syndrome 2"
] | [
"Q12136"
] | [
[
"BRGDA2",
"Brugada Syndrome type 2"
]
] |
Q18034662-P2293 | P2293 | Q18034662 | EIF4A3 | Q7187 | [
"eIF4A-III",
"RCPS",
"eukaryotic translation initiation factor 4A3",
"eIF-4A-III",
"eIF4AIII",
"DDX48",
"Fal1",
"MUK34",
"NMP265",
"NUK34"
] | [
"Q55782295"
] | [
"Richieri Costa-Pereira syndrome"
] | [
"Q12136"
] | [
[
"Richieri Costa Pereira syndrome",
"Richieri-Costa-Pereira Syndrome"
]
] |
Q18037250-P2293 | P2293 | Q18037250 | TNPO3 | Q7187 | [
"transportin 3",
"LGMD1F",
"TRN-SR",
"IPO12",
"LGMDD2",
"MTR10A",
"TRN-SR2",
"TRNSR"
] | [
"Q1485"
] | [
"systemic lupus erythematosus"
] | [
"Q12136"
] | [
[
"SLE",
"Lupus Erythematosus, systemic"
]
] |
Q18046278-P2293 | P2293 | Q18046278 | ZMAT4 | Q7187 | [
"zinc finger matrin-type 4"
] | [
"Q470427"
] | [
"refractive error"
] | [
"Q12136"
] | [
[
"refraction or accommodation disorder",
"Abnormality of refraction",
"ametropia",
"disorder of refraction",
"eye refraction disorder",
"refraction error",
"refractive disorder",
"Refractive errors"
]
] |
Q18031809-P2293 | P2293 | Q18031809 | SYT1 | Q7187 | [
"P65",
"synaptotagmin 1",
"BAGOS",
"SVP65"
] | [
"Q12174"
] | [
"obesity"
] | [
"Q12136"
] | [
[
"overweight",
"corpulence",
"fatness",
"over-weight",
"overfatness"
]
] |
Q14907462-P2293 | P2293 | Q14907462 | SLC26A4 | Q7187 | [
"PDS",
"EVA",
"DFNB4",
"solute carrier family 26 member 4",
"TDH2B"
] | [
"Q7331102"
] | [
"alcohol abuse"
] | [
"Q12136"
] | [
[
"alcohol use disorder",
"ethanol abuse",
"harmful use of alcohol"
]
] |
Q14914108-P2293 | P2293 | Q14914108 | CIITA | Q7187 | [
"C2TA",
"CIITAIV",
"MHC2TA",
"NLRA"
] | [
"Q1477"
] | [
"ulcerative colitis"
] | [
"Q12136"
] | [
[
"UC",
"Colitis Ulcerative",
"hemorrhagic colitis",
"left-sided ulcerative colitis"
]
] |
Q18047238-P2293 | P2293 | Q18047238 | TRAPPC9 | Q7187 | [
"T1",
"IBP",
"trafficking protein particle complex 9",
"TRS120",
"IKBKBBP",
"MRT13",
"NIBP"
] | [
"Q12174"
] | [
"obesity"
] | [
"Q12136"
] | [
[
"overweight",
"corpulence",
"fatness",
"over-weight",
"overfatness"
]
] |
Q18029145-P2293 | P2293 | Q18029145 | MKLN1 | Q7187 | [
"muskelin 1",
"TWA2"
] | [
"Q35869"
] | [
"asthma"
] | [
"Q12136"
] | [
[
"exercise-induced asthma",
"Exercise induced asthma",
"asthma brionchiole",
"bronchial hyperreactivity",
"chronic obstructive asthma"
]
] |
Q18047600-P2293 | P2293 | Q18047600 | HHIPL1 | Q7187 | [
"HHIP like 1",
"KIAA1822",
"UNQ9245"
] | [
"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"
]
] |
Q18041883-P2293 | P2293 | Q18041883 | ITLN1 | Q7187 | [
"HL-1",
"HL1",
"LFR",
"hIntL",
"intelectin 1",
"INTL",
"omentin"
] | [
"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"
]
] |
Q14905618-P2293 | P2293 | Q14905618 | NLRP3 | Q7187 | [
"MWS",
"AII",
"KEFH",
"AVP",
"NLR family, pyrin domain containing 3",
"DFNA34",
"FCU",
"AGTAVPRL",
"FCAS",
"NALP3",
"CLR1.1",
"NLR family pyrin domain containing 3",
"C1orf7",
"CIAS1",
"FCAS1",
"PYPAF1"
] | [
"Q779203"
] | [
"CINCA syndrome"
] | [
"Q12136"
] | [
[
"CINCA/NOMID",
"cryopyrin-associated periodic syndrome 3",
"infantile-onset multisystem inflammatory disease",
"IOMID syndrome",
"NOMID",
"NOMID syndrome",
"Prieur-Griscelli syndrome"
]
] |
Q18030866-P2293 | P2293 | Q18030866 | PSMB10 | Q7187 | [
"proteasome subunit beta 10",
"beta2i",
"LMP10",
"MECL1",
"proteasome 20S subunit beta 10"
] | [
"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"
]
] |
Q18041050-P2293 | P2293 | Q18041050 | TMCO1 | Q7187 | [
"HP10122",
"PCIA3",
"PNAS-136",
"TMCC4"
] | [
"Q55629168"
] | [
"Pascual-Castroviejo syndrome"
] | [
"Q12136"
] | [
[
"CFSMR"
]
] |
Q18048865-P2293 | P2293 | Q18048865 | IL17F | Q7187 | [
"ML-1",
"ML1",
"interleukin 17F",
"CANDF6"
] | [
"Q212961"
] | [
"pancreatic cancer"
] | [
"Q12136"
] | [
[
"Ca body of pancreas",
"Ca head of pancreas",
"Ca tail of pancreas"
]
] |
Q18037581-P2293 | P2293 | Q18037581 | SMPX | Q7187 | [
"Csl",
"small muscle protein, X-linked",
"Chisel",
"DFN6",
"DFNX4",
"small muscle protein X-linked"
] | [
"Q9079046"
] | [
"nonsyndromic deafness"
] | [
"Q12136"
] | [
[
"Familial deafness",
"Isolated genetic deafness",
"Non-syndromic genetic deafness",
"nonsyndromic hearing loss",
"nonsyndromic hereditary hearing loss"
]
] |
Q18031891-P2293 | P2293 | Q18031891 | TRB | Q7187 | [
"TCRB",
"T cell receptor beta locus",
"T-cell receptor beta locus"
] | [
"Q189561"
] | [
"narcolepsy"
] | [
"Q12136"
] | [
[
"Narcolepsy, without cataplexy",
"paroxysmal sleep"
]
] |
Q18040145-P2293 | P2293 | Q18040145 | BET1L | Q7187 | [
"BET1L1",
"GOLIM3",
"GS15",
"HSPC197"
] | [
"Q1198391"
] | [
"intracranial aneurysm"
] | [
"Q12136"
] | [
[
"brain aneurysm",
"Cerebral aneurysm"
]
] |
Q18041534-P2293 | P2293 | Q18041534 | KIF26B | Q7187 | [
"kinesin family member 26B"
] | [
"Q41112"
] | [
"schizophrenia"
] | [
"Q12136"
] | [
[
"schizophrenia-1",
"dementia praecox",
"Kraepelin-Morel disease",
"Morel-Kraepelin disease"
]
] |
Q17916838-P2293 | P2293 | Q17916838 | EPAS1 | Q7187 | [
"bHLHe73",
"ECYT4",
"endothelial PAS domain protein 1",
"HIF2A",
"HLF",
"MOP2",
"PASD2"
] | [
"Q1164529"
] | [
"renal cell carcinoma"
] | [
"Q12136"
] | [
[
"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"
]
] |
Q18031287-P2293 | P2293 | Q18031287 | RPS6KA2 | Q7187 | [
"RSK",
"HU-2",
"MAPKAPK1C",
"p90-RSK3",
"p90RSK2",
"pp90RSK3",
"ribosomal protein S6 kinase A2",
"RSK3",
"S6K-alpha",
"S6K-alpha2"
] | [
"Q133772"
] | [
"dental caries"
] | [
"Q12136"
] | [
[
"cavities",
"dental caries extending into pulp",
"dental caries of smooth surface",
"dental caries pit and fissure",
"tooth decay"
]
] |
Q18035328-P2293 | P2293 | Q18035328 | HMG20A | Q7187 | [
"high mobility group 20A",
"HMGX1",
"HMGXB1"
] | [
"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"
]
] |
Q18042957-P2293 | P2293 | Q18042957 | ZMIZ1 | Q7187 | [
"NEDDFSA",
"RAI17",
"TRAFIP10",
"ZIMP10",
"zinc finger MIZ-type containing 1",
"hZIMP10"
] | [
"Q1472",
"Q8277",
"Q11088",
"Q128581",
"Q179945",
"Q180152",
"Q917447",
"Q3025883"
] | [
"Crohn's disease",
"multiple sclerosis",
"coeliac disease",
"breast cancer",
"psoriasis",
"vitiligo",
"inflammatory bowel diseases",
"type 2 diabetes"
] | [
"Q12136",
"Q12136",
"Q12136",
"Q12136",
"Q12136",
"Q12136",
"Q12136",
"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"
],
[
"MS",
"disseminated sclerosis",
"generalised multiple sclerosis",
"generalized multiple sclerosis",
"Generalized multiple sclerosis (disorder)",
"insular sclerosis",
"Multiple sclerosis; MS"
],
[
"celiac disease",
"celiac sprue",
"endemic sprue",
"gluten enteropathy",
"idiopathic steatorrhea",
"nontropical sprue"
],
[
"breast disorder",
"malignant neoplasm of breast",
"malignant tumor of the breast",
"mammary cancer",
"primary breast cancer"
],
[],
[
"leukoderma",
"leucoderma"
],
[
"IBD"
],
[
"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"
]
] |
Q18030524-P2293 | P2293 | Q18030524 | PHYH | Q7187 | [
"LN1",
"LNAP1",
"PAHX",
"PHYH1",
"RD"
] | [
"Q177809"
] | [
"adult Refsum disease"
] | [
"Q12136"
] | [
[
"Classic Refsum disease",
"Doc 11 (phytanic acid type)",
"HMSN 4",
"HMSN type IV",
"HSMN IV",
"Refsum Disease, Adult, 1",
"Refsum's disease"
]
] |