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---|---|---|---|---|---|---|---|---|---|
Q14905312-P2293 | P2293 | Q14905312 | MASP1 | Q7187 | [
"RaRF",
"MAP1",
"MAp44",
"MASP3",
"3MC1",
"CRARF",
"CRARF1",
"PRSS5"
] | [
"Q206901"
] | [
"amyotrophic lateral sclerosis"
] | [
"Q12136"
] | [
[
"ALS",
"Charcot disease",
"Lou Gehrig disease",
"Lou Gehrig's disease",
"motor neuron disease, bulbar"
]
] |
Q14878377-P2293 | P2293 | Q14878377 | PTEN | Q7187 | [
"MMAC1",
"phosphatase and tensin homolog",
"TEP1",
"GLM2",
"Phosphatase and tensin homolog",
"MHAM",
"BZS",
"DEC",
"PTENbeta",
"10q23del",
"CWS1",
"PTEN1"
] | [
"Q1138188",
"Q3508737",
"Q18348812",
"Q32136586"
] | [
"Cowden syndrome 1",
"multiple hamartoma syndrome",
"head and neck squamous cell carcinoma",
"macrocephaly-autism syndrome"
] | [
"Q12136",
"Q12136",
"Q12136",
"Q12136"
] | [
[
"Lhermitte-Duclos disease",
"Multiple hamartoma syndrome",
"Cowden's disease",
"Cowden disease"
],
[
"PHTS",
"Hamartoma Syndrome, Multiple",
"PTEN hamartoma tumor syndrome"
],
[
"SCCHN",
"HNSCC",
"carcinoma of the head and neck"
],
[]
] |
Q18037219-P2293 | P2293 | Q18037219 | ZFYVE26 | Q7187 | [
"FYVE-CENT",
"SPG15",
"zinc finger FYVE-type containing 26"
] | [
"Q206901"
] | [
"amyotrophic lateral sclerosis"
] | [
"Q12136"
] | [
[
"ALS",
"Charcot disease",
"Lou Gehrig disease",
"Lou Gehrig's disease",
"motor neuron disease, bulbar"
]
] |
Q18027858-P2293 | P2293 | Q18027858 | IL10RA | Q7187 | [
"interleukin 10 receptor subunit alpha",
"IL-10R1",
"CD210",
"CD210a",
"CDW210A",
"HIL-10R",
"Interleukin 10 receptor, alpha subunit"
] | [
"Q32144473"
] | [
"inflammatory bowel disease 28"
] | [
"Q12136"
] | [
[
"IBD28",
"inflammatory bowel disease type 28"
]
] |
Q18043161-P2293 | P2293 | Q18043161 | MARCHF4 | Q7187 | [
"membrane associated ring-CH-type finger 4",
"MARCH-IV",
"MARCH4",
"RNF174"
] | [
"Q133823"
] | [
"migraine disorder"
] | [
"Q12136"
] | [
[
"migraine disorders",
"migraine variant",
"migraine with or without aura",
"sick headache"
]
] |
Q18037594-P2293 | P2293 | Q18037594 | KCNE4 | Q7187 | [
"MIRP3"
] | [
"Q18553852"
] | [
"lymphoblastic leukemia"
] | [
"Q12136"
] | [
[
"lymphoid leukemia"
]
] |
Q14911562-P2293 | P2293 | Q14911562 | TGFBR3 | Q7187 | [
"betaglycan",
"transforming growth factor beta receptor 3",
"BGCAN"
] | [
"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"
]
] |
Q18034029-P2293 | P2293 | Q18034029 | LONP1 | Q7187 | [
"Lon protease homolog, mitochondrial",
"CODASS",
"hLON",
"lon peptidase 1, mitochondrial",
"LonHS",
"PIM1",
"PRSS15"
] | [
"Q54319441"
] | [
"CODAS syndrome"
] | [
"Q12136"
] | [
[]
] |
Q18026556-P2293 | P2293 | Q18026556 | GRM8 | Q7187 | [
"GLUR8",
"glutamate metabotropic receptor 8",
"GPRC1H",
"mGlu8",
"MGLUR8"
] | [
"Q4340209",
"Q12252367",
"Q18556697"
] | [
"mental depression",
"atherosclerosis",
"human immunodeficiency virus infectious disease"
] | [
"Q12136",
"Q12136",
"Q12136"
] | [
[],
[
"ASVD",
"arteriosclerotic vascular disease"
],
[
"HIV infection",
"HIV-positive",
"HIV+"
]
] |
Q18037239-P2293 | P2293 | Q18037239 | KAT6B | Q7187 | [
"MORF",
"qkf",
"querkopf",
"GTPTS",
"MOZ2",
"MYST4",
"ZC2HC6B"
] | [
"Q8058422"
] | [
"Young-Simpson syndrome"
] | [
"Q12136"
] | [
[
"SBBYSS"
]
] |
Q14890615-P2293 | P2293 | Q14890615 | APOB | Q7187 | [
"apolipoprotein B",
"FCHL2",
"apoB-100",
"apoB-48",
"FLDB",
"LDLCQ4"
] | [
"Q389735",
"Q1476525",
"Q2351083"
] | [
"cardiovascular disease",
"lipid metabolism disorder",
"metabolic disease"
] | [
"Q12136",
"Q12136",
"Q12136"
] | [
[
"Cardiovascular Diseases",
"dvd",
"cardiovascular system disease",
"cardiovascular system scpestatua",
"CV disease",
"disease of subdivision of hemolymphoid system",
"wats"
],
[
"dyslipidemia",
"fatty acid metabolism disorder",
"lipid metabolism disorders"
],
[
"metabolic disorder",
"disease of metabolism",
"disorder of metabolic process",
"metabolic diseases",
"metabolic illness"
]
] |
Q14865314-P2293 | P2293 | Q14865314 | COX1 | Q7187 | [
"MTCO1",
"COI",
"CO I"
] | [
"Q188874",
"Q1262161"
] | [
"colorectal cancer",
"Leber hereditary optic neuropathy"
] | [
"Q12136",
"Q12136"
] | [
[
"bowel cancer",
"colon and rectal cancer",
"colon cancer",
"Colorectal cancer, familial",
"large intestine cancer"
],
[
"Leber's hereditary optic neuropathy",
"LHON",
"Leber's optic atrophy",
"Leber optic atrophy",
"optic atrophy, Leber's"
]
] |
Q18030454-P2293 | P2293 | Q18030454 | PEPD | Q7187 | [
"peptidase D",
"PROLIDASE"
] | [
"Q3025883",
"Q7249599"
] | [
"type 2 diabetes",
"prolidase deficiency"
] | [
"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"
],
[
"Hyperimidodipeptiduria"
]
] |
Q18040601-P2293 | P2293 | Q18040601 | ADA2 | Q7187 | [
"PAN",
"adenosine deaminase 2",
"cat eye syndrome chromosome region, candidate 1",
"CECR1",
"ADGF",
"IDGFL",
"SNEDS",
"VAIHS"
] | [
"Q684840"
] | [
"Sneddon syndrome"
] | [
"Q12136"
] | [
[
"Ehrmann-Sneddon syndrome",
"Sneddon's syndrome"
]
] |
Q18040047-P2293 | P2293 | Q18040047 | SLC45A2 | Q7187 | [
"1A1",
"OCA4",
"AIM1",
"MATP",
"SHEP5",
"solute carrier family 45 member 2"
] | [
"Q180614"
] | [
"melanoma"
] | [
"Q12136"
] | [
[
"malignant melanoma",
"Naevocarcinom",
"Naevocarcinoma"
]
] |
Q18042174-P2293 | P2293 | Q18042174 | SULF2 | Q7187 | [
"sulfatase 2",
"HSULF-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"
]
] |
Q18048165-P2293 | P2293 | Q18048165 | TSPAN18 | Q7187 | [
"tetraspanin 18"
] | [
"Q41112"
] | [
"schizophrenia"
] | [
"Q12136"
] | [
[
"schizophrenia-1",
"dementia praecox",
"Kraepelin-Morel disease",
"Morel-Kraepelin disease"
]
] |
Q14914316-P2293 | P2293 | Q14914316 | KCNQ3 | Q7187 | [
"BFNC2",
"EBN2",
"KV7.3",
"potassium voltage-gated channel subfamily Q member 3"
] | [
"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"
]
] |
Q18031514-P2293 | P2293 | Q18031514 | SKIV2L | Q7187 | [
"HLP",
"SKI2",
"Ski2 like RNA helicase",
"THES2",
"170A",
"DDX13",
"SKI2W",
"SKIV2L1"
] | [
"Q830308"
] | [
"age related macular degeneration"
] | [
"Q12136"
] | [
[
"AMD",
"Age Related Maculopathies",
"Age Related Maculopathy",
"age-related macular degeneration",
"senile macular degeneration"
]
] |
Q18049219-P2293 | P2293 | Q18049219 | ACSM1 | Q7187 | [
"BUCS1",
"MACS1"
] | [
"Q41112"
] | [
"schizophrenia"
] | [
"Q12136"
] | [
[
"schizophrenia-1",
"dementia praecox",
"Kraepelin-Morel disease",
"Morel-Kraepelin disease"
]
] |
Q20970208-P2293 | P2293 | Q20970208 | PPARG | Q7187 | [
"NR1C3",
"peroxisome proliferator activated receptor gamma",
"PPARgamma",
"GLM1",
"CIMT1",
"PPARG1",
"PPARG2",
"PPARG5"
] | [
"Q3025883",
"Q5432945"
] | [
"type 2 diabetes",
"familial partial lipodystrophy"
] | [
"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"
],
[
"FPLD3",
"PPARG-related FPLD",
"Dunnigan Syndrome",
"Familial partial lipodystrophy type 3",
"Koberling-Dunnigan Syndrome"
]
] |
Q1181014-P2293 | P2293 | Q1181014 | DNM1 | Q7187 | [
"dynamin 1",
"Dynamin-1",
"EIEE31"
] | [
"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"
]
] |
Q18035095-P2293 | P2293 | Q18035095 | SORBS3 | Q7187 | [
"sorbin and SH3 domain containing 3",
"SCAM-1",
"SCAM1",
"SH3D4"
] | [
"Q18556697"
] | [
"human immunodeficiency virus infectious disease"
] | [
"Q12136"
] | [
[
"HIV infection",
"HIV-positive",
"HIV+"
]
] |
Q18035408-P2293 | P2293 | Q18035408 | COG5 | Q7187 | [
"CDG2I",
"GOLTC1",
"GTC90"
] | [
"Q62736"
] | [
"osteoarthritis"
] | [
"Q12136"
] | [
[
"degenerative arthritis",
"degenerative joint disease",
"hypertrophic arthritis",
"osteoarthrosis",
"osteoarthrosis and allied disorder"
]
] |
Q18045544-P2293 | P2293 | Q18045544 | CDH23 | Q7187 | [
"USH1D",
"cadherin related 23",
"cadherin-related 23",
"CDHR23",
"PITA5"
] | [
"Q131755",
"Q9079046"
] | [
"bipolar disorder",
"nonsyndromic deafness"
] | [
"Q12136",
"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"
],
[
"Familial deafness",
"Isolated genetic deafness",
"Non-syndromic genetic deafness",
"nonsyndromic hearing loss",
"nonsyndromic hereditary hearing loss"
]
] |
Q18028493-P2293 | P2293 | Q18028493 | LCP1 | Q7187 | [
"LPL",
"lymphocyte cytosolic protein 1",
"CP64",
"HEL-S-37",
"L-PLASTIN",
"LC64P",
"PLS2"
] | [
"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"
]
] |
Q18031085-P2293 | P2293 | Q18031085 | REL | Q7187 | [
"C-Rel"
] | [
"Q187255",
"Q511097"
] | [
"rheumatoid arthritis",
"psoriatic arthritis"
] | [
"Q12136",
"Q12136"
] | [
[
"atrophic Arthritis",
"Malignant rheumatoid arthritis"
],
[
"arthritis psoriatica",
"Arthritis, Psoriatic",
"arthropathic psoriasis",
"psoriatic arthropathy"
]
] |
Q18036690-P2293 | P2293 | Q18036690 | NMNAT2 | Q7187 | [
"PNAT2",
"C1orf15"
] | [
"Q12174"
] | [
"obesity"
] | [
"Q12136"
] | [
[
"overweight",
"corpulence",
"fatness",
"over-weight",
"overfatness"
]
] |
Q18034583-P2293 | P2293 | Q18034583 | VGLL4 | Q7187 | [
"vestigial like family member 4",
"VGL-4"
] | [
"Q131749"
] | [
"anorexia nervosa"
] | [
"Q12136"
] | [
[
"anorexia nerviosa",
"size 0"
]
] |
Q14911762-P2293 | P2293 | Q14911762 | CDK6 | Q7187 | [
"cyclin-dependent kinase 6",
"MCPH12",
"cyclin dependent kinase 6",
"PLSTIRE"
] | [
"Q187255"
] | [
"rheumatoid arthritis"
] | [
"Q12136"
] | [
[
"atrophic Arthritis",
"Malignant rheumatoid arthritis"
]
] |
Q18031023-P2293 | P2293 | Q18031023 | RAG2 | Q7187 | [
"recombination activating gene 2",
"recombination activating 2"
] | [
"Q2214419"
] | [
"Omenn syndrome"
] | [
"Q12136"
] | [
[]
] |
Q18053449-P2293 | P2293 | Q18053449 | ZNF438 | Q7187 | [
"zinc finger protein 438",
"bA330O11.1"
] | [
"Q11081"
] | [
"Alzheimer's disease"
] | [
"Q12136"
] | [
[
"AD",
"Alzheimer dementia",
"Alzheimer disease",
"Alzheimer disease, familial",
"Alzheimer's dementia",
"Alzheimers dementia"
]
] |
Q18047740-P2293 | P2293 | Q18047740 | MYO18B | Q7187 | [
"KFS4",
"myosin XVIIIB"
] | [
"Q41112",
"Q131755",
"Q4340209"
] | [
"schizophrenia",
"bipolar disorder",
"mental depression"
] | [
"Q12136",
"Q12136",
"Q12136"
] | [
[
"schizophrenia-1",
"dementia praecox",
"Kraepelin-Morel disease",
"Morel-Kraepelin disease"
],
[
"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"
],
[]
] |
Q14912280-P2293 | P2293 | Q14912280 | CHEK2 | Q7187 | [
"hCds1",
"CDS1",
"RAD53",
"LFS2",
"checkpoint kinase 2",
"CHK2",
"HuCds1",
"PP1425"
] | [
"Q47912"
] | [
"lung cancer"
] | [
"Q12136"
] | [
[
"malignant lung tumor",
"malignant neoplasm of lung"
]
] |
Q18028678-P2293 | P2293 | Q18028678 | LSP1 | Q7187 | [
"lymphocyte-specific protein 1",
"pp52",
"lymphocyte specific protein 1",
"WP34"
] | [
"Q1477",
"Q504775"
] | [
"ulcerative colitis",
"bladder cancer"
] | [
"Q12136",
"Q12136"
] | [
[
"UC",
"Colitis Ulcerative",
"hemorrhagic colitis",
"left-sided ulcerative colitis"
],
[
"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"
]
] |
Q18048662-P2293 | P2293 | Q18048662 | DNER | Q7187 | [
"bet",
"delta/notch like EGF repeat containing",
"UNQ26"
] | [
"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"
]
] |
Q18050468-P2293 | P2293 | Q18050468 | SLCO6A1 | Q7187 | [
"GST",
"CT48",
"OATP-I",
"OATP6A1",
"OATPY"
] | [
"Q41112"
] | [
"schizophrenia"
] | [
"Q12136"
] | [
[
"schizophrenia-1",
"dementia praecox",
"Kraepelin-Morel disease",
"Morel-Kraepelin disease"
]
] |
Q18039859-P2293 | P2293 | Q18039859 | NSDHL | Q7187 | [
"H105E3",
"XAP104",
"SDR31E1"
] | [
"Q3508568",
"Q55782485"
] | [
"CHILD syndrome",
"CK syndrome"
] | [
"Q12136",
"Q12136"
] | [
[
"CHILD nevus",
"Ichthyosis, CHILD syndrome"
],
[]
] |
Q417743-P2293 | P2293 | Q417743 | PC | Q7187 | [
"PCB",
"pyruvate carboxylase"
] | [
"Q7263794",
"Q18556697"
] | [
"pyruvate carboxylase deficiency disease",
"human immunodeficiency virus infectious disease"
] | [
"Q12136",
"Q12136"
] | [
[
"Ataxia With Lactic Acidosis 2",
"Ataxia with lactic acidosis type 2",
"Ataxia with lactic acidosis type II",
"deficiency of pyruvic carboxylase",
"Leigh syndrome due to PC deficiency",
"Pc Deficiency"
],
[
"HIV infection",
"HIV-positive",
"HIV+"
]
] |
Q18029917-P2293 | P2293 | Q18029917 | NDUFA8 | Q7187 | [
"CI-PGIV",
"CI-19KD",
"PGIV"
] | [
"Q12174"
] | [
"obesity"
] | [
"Q12136"
] | [
[
"overweight",
"corpulence",
"fatness",
"over-weight",
"overfatness"
]
] |
Q18040310-P2293 | P2293 | Q18040310 | CABP2 | Q7187 | [
"calcium binding protein 2",
"DFNB93"
] | [
"Q9079046"
] | [
"nonsyndromic deafness"
] | [
"Q12136"
] | [
[
"Familial deafness",
"Isolated genetic deafness",
"Non-syndromic genetic deafness",
"nonsyndromic hearing loss",
"nonsyndromic hereditary hearing loss"
]
] |
Q18046802-P2293 | P2293 | Q18046802 | CMIP | Q7187 | [
"c-Maf inducing protein",
"TCMIP"
] | [
"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"
]
] |
Q286987-P2293 | P2293 | Q286987 | ABCA1 | Q7187 | [
"ABC-1",
"Abc1",
"ABC1",
"ATP binding cassette subfamily A member 1",
"CERP",
"HDLCQTL13",
"HDLDT1",
"HPALP1",
"TGD"
] | [
"Q168403",
"Q844935",
"Q1476525",
"Q2351083"
] | [
"myopia",
"coronary artery disease",
"lipid metabolism disorder",
"metabolic disease"
] | [
"Q12136",
"Q12136",
"Q12136",
"Q12136"
] | [
[
"near vision",
"near-sightedness",
"short-sightedness"
],
[
"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"
],
[
"dyslipidemia",
"fatty acid metabolism disorder",
"lipid metabolism disorders"
],
[
"metabolic disorder",
"disease of metabolism",
"disorder of metabolic process",
"metabolic diseases",
"metabolic illness"
]
] |
Q18034312-P2293 | P2293 | Q18034312 | ATG5 | Q7187 | [
"ASP",
"APG5",
"autophagy related 5",
"SCAR25",
"APG5-LIKE",
"APG5L",
"hAPG5"
] | [
"Q187255"
] | [
"rheumatoid arthritis"
] | [
"Q12136"
] | [
[
"atrophic Arthritis",
"Malignant rheumatoid arthritis"
]
] |
Q18030945-P2293 | P2293 | Q18030945 | PTPRJ | Q7187 | [
"SCC1",
"DEP1",
"CD148",
"HPTPeta",
"R-PTP-ETA"
] | [
"Q18553852"
] | [
"lymphoblastic leukemia"
] | [
"Q12136"
] | [
[
"lymphoid leukemia"
]
] |
Q14860537-P2293 | P2293 | Q14860537 | SERPINA1 | Q7187 | [
"AAT",
"A1A",
"PI1",
"A1AT",
"alpha1AT",
"nNIF",
"PRO2275",
"serpin family A member 1"
] | [
"Q622437"
] | [
"alpha-1-antitrypsin deficiency"
] | [
"Q12136"
] | [
[
"AATD",
"Alpha-1 antitrypsin deficiency",
"Alpha 1-antitrypsin deficiency",
"Alpha 1 antitrypsin deficiency",
"A-1ATD",
"A1AD",
"A1AT deficiency",
"AAT deficiency"
]
] |
Q18039818-P2293 | P2293 | Q18039818 | CHST11 | Q7187 | [
"C4ST-1",
"C4ST1",
"C4ST",
"HSA269537",
"OCBMD"
] | [
"Q3743620"
] | [
"cannabis dependence"
] | [
"Q12136"
] | [
[
"cannabis abuse",
"marijuana abuse weed abuse"
]
] |
Q18054044-P2293 | P2293 | Q18054044 | JAKMIP3 | Q7187 | [
"bA140A10.5",
"C10orf14",
"C10orf39",
"Jamip3",
"Janus kinase and microtubule interacting protein 3",
"NECC2"
] | [
"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"
]
] |
Q18030567-P2293 | P2293 | Q18030567 | PKHD1 | Q7187 | [
"ARPKD",
"PKD4",
"FPC",
"FCYT",
"TIGM1"
] | [
"Q181257"
] | [
"prostate cancer"
] | [
"Q12136"
] | [
[
"hereditary prostate cancer",
"malignant tumor of the prostate",
"prostate cancer, familial",
"prostatic cancer",
"tumor of the prostate"
]
] |
Q14594058-P2293 | P2293 | Q14594058 | KCNE3 | Q7187 | [
"MiRP2",
"HOKPP",
"HYPP",
"BRGDA6"
] | [
"Q177895"
] | [
"astigmatism"
] | [
"Q12136"
] | [
[]
] |
Q17927578-P2293 | P2293 | Q17927578 | FBLN1 | Q7187 | [
"fibulin 1",
"FIBL1"
] | [
"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"
]
] |
Q18025380-P2293 | P2293 | Q18025380 | GALNT2 | Q7187 | [
"CDG2T",
"GalNAc-T2"
] | [
"Q2351083"
] | [
"metabolic disease"
] | [
"Q12136"
] | [
[
"metabolic disorder",
"disease of metabolism",
"disorder of metabolic process",
"metabolic diseases",
"metabolic illness"
]
] |
Q18033532-P2293 | P2293 | Q18033532 | TIMELESS | Q7187 | [
"TIM1",
"hTIM",
"timeless circadian clock",
"timeless circadian regulator"
] | [
"Q12214"
] | [
"smallpox"
] | [
"Q12136"
] | [
[
"ordinary smallpox",
"variola",
"variola vera"
]
] |
Q18037015-P2293 | P2293 | Q18037015 | PLCL2 | Q7187 | [
"phospholipase C like 2",
"PLCE2"
] | [
"Q8277",
"Q12152",
"Q187255",
"Q1072420"
] | [
"multiple sclerosis",
"myocardial infarction",
"rheumatoid arthritis",
"primary biliary cirrhosis"
] | [
"Q12136",
"Q12136",
"Q12136",
"Q12136"
] | [
[
"MS",
"disseminated sclerosis",
"generalised multiple sclerosis",
"generalized multiple sclerosis",
"Generalized multiple sclerosis (disorder)",
"insular sclerosis",
"Multiple sclerosis; MS"
],
[
"MI",
"heart attack",
"infarctus myocardii acutus"
],
[
"atrophic Arthritis",
"Malignant rheumatoid arthritis"
],
[
"PBC",
"biliary liver cirrhosis",
"cholestatic cirrhosis",
"primary biliary cholangitis",
"Primary biliary cholangitis"
]
] |
Q17710244-P2293 | P2293 | Q17710244 | ADH1B | Q7187 | [
"ADH2",
"HEL-S-117"
] | [
"Q372701",
"Q7331102"
] | [
"esophageal cancer",
"alcohol abuse"
] | [
"Q12136",
"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"
],
[
"alcohol use disorder",
"ethanol abuse",
"harmful use of alcohol"
]
] |
Q18046189-P2293 | P2293 | Q18046189 | ARMH3 | Q7187 | [
"C10orf76",
"armadillo like helical domain containing 3",
"chromosome 10 open reading frame 76"
] | [
"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"
]
] |
Q17912302-P2293 | P2293 | Q17912302 | DACH1 | Q7187 | [
"dachshund family transcription factor 1"
] | [
"Q206901",
"Q1054718"
] | [
"amyotrophic lateral sclerosis",
"kidney disease"
] | [
"Q12136",
"Q12136"
] | [
[
"ALS",
"Charcot disease",
"Lou Gehrig disease",
"Lou Gehrig's disease",
"motor neuron disease, bulbar"
],
[
"renal disease",
"disease of kidney",
"disorder of kidney",
"kidney damage",
"kidney diseases",
"kidney injury",
"kidney necrosis",
"nephron damage",
"nephropathy"
]
] |
Q14860072-P2293 | P2293 | Q14860072 | SHH | Q7187 | [
"TPT",
"HLP3",
"HHG1",
"HPE3",
"MCOPCB5",
"ShhNC",
"SMMCI",
"sonic hedgehog",
"Sonic hedgehog",
"sonic hedgehog signaling molecule",
"TPTPS"
] | [
"Q55780712"
] | [
"Laurin-Sandrow syndrome"
] | [
"Q12136"
] | [
[
"LSS",
"Laurin Sandrow syndrome",
"Mirror hands and feets-nasal defects syndrome",
"Mirror-Image Polydactyly"
]
] |
Q17909267-P2293 | P2293 | Q17909267 | CREBL2 | Q7187 | [] | [
"Q1485"
] | [
"systemic lupus erythematosus"
] | [
"Q12136"
] | [
[
"SLE",
"Lupus Erythematosus, systemic"
]
] |
Q18052177-P2293 | P2293 | Q18052177 | CMTM8 | Q7187 | [
"CKLFSF8",
"CKLFSF8-V2"
] | [
"Q18556697"
] | [
"human immunodeficiency virus infectious disease"
] | [
"Q12136"
] | [
[
"HIV infection",
"HIV-positive",
"HIV+"
]
] |
Q18037287-P2293 | P2293 | Q18037287 | PADI4 | Q7187 | [
"PAD4",
"PADI5",
"PDI4",
"PDI5"
] | [
"Q187255"
] | [
"rheumatoid arthritis"
] | [
"Q12136"
] | [
[
"atrophic Arthritis",
"Malignant rheumatoid arthritis"
]
] |
Q14885879-P2293 | P2293 | Q14885879 | TBXT | Q7187 | [
"TFT",
"SAVA",
"T brachyury transcription factor",
"T-box transcription factor T"
] | [
"Q1076389"
] | [
"chordoma"
] | [
"Q12136"
] | [
[
"Notochordal sarcoma",
"notochordoma",
"susceptibility to chordoma",
"CHDM"
]
] |
Q18035603-P2293 | P2293 | Q18035603 | EBP | Q7187 | [
"CHO2",
"MEND",
"CPX",
"CDPX2",
"CPXD"
] | [
"Q55782508"
] | [
"MEND syndrome"
] | [
"Q12136"
] | [
[
"Male EBP disorder with neurological defects",
"MEND SYNDROME; MEND"
]
] |
Q18052497-P2293 | P2293 | Q18052497 | STRC | Q7187 | [
"stereocilin",
"DFNB16"
] | [
"Q9079046",
"Q55783802"
] | [
"nonsyndromic deafness",
"deafness-infertility syndrome"
] | [
"Q12136",
"Q12136"
] | [
[
"Familial deafness",
"Isolated genetic deafness",
"Non-syndromic genetic deafness",
"nonsyndromic hearing loss",
"nonsyndromic hereditary hearing loss"
],
[
"DIS"
]
] |
Q18036717-P2293 | P2293 | Q18036717 | ARHGAP26 | Q7187 | [
"GRAF",
"Rho GTPase activating protein 26",
"GRAF1",
"OPHN1L",
"OPHN1L1"
] | [
"Q2578247"
] | [
"juvenile myelomonocytic leukemia"
] | [
"Q12136"
] | [
[
"JMML",
"Chronic Myelomonocytic Leukemia",
"JCML"
]
] |
Q20970123-P2293 | P2293 | Q20970123 | ATP8B1 | Q7187 | [
"BRIC",
"ICP1",
"PFIC1",
"PFIC",
"FIC1",
"ATPIC"
] | [
"Q180152",
"Q181923",
"Q596474"
] | [
"vitiligo",
"attention deficit hyperactivity disorder",
"conduct disorder"
] | [
"Q12136",
"Q12136",
"Q12136"
] | [
[
"leukoderma",
"leucoderma"
],
[
"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"
]
] |
Q18055372-P2293 | P2293 | Q18055372 | SLC6A19 | Q7187 | [
"HND",
"solute carrier family 6 member 19",
"B0AT1"
] | [
"Q1532449"
] | [
"glycinuria"
] | [
"Q12136"
] | [
[
"hyperglycinuria",
"Iminoglycinuria Type 2"
]
] |
Q18033785-P2293 | P2293 | Q18033785 | AIP | Q7187 | [
"XAP-2",
"aryl hydrocarbon receptor interacting protein",
"XAP2",
"ARA9",
"FKBP16",
"FKBP37",
"PITA1",
"SMTPHN"
] | [
"Q954831"
] | [
"prolactinoma"
] | [
"Q12136"
] | [
[
"familial prolactinoma",
"Lactotroph Adenoma",
"Pituitary Gland Prolactinoma",
"Pituitary Prolactinoma",
"PRLoma",
"Prolactin secreting adenoma",
"Prolactin Secreting Adenoma",
"Prolactinoma of Pituitary",
"Prolactinoma of the Pituitary",
"Prolactinoma, Familial"
]
] |
Q18042779-P2293 | P2293 | Q18042779 | SLC12A9 | Q7187 | [
"CIP1",
"CCC6",
"hCCC6",
"solute carrier family 12 member 9",
"WO3.3"
] | [
"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"
]
] |
Q18030215-P2293 | P2293 | Q18030215 | NRAS | Q7187 | [
"ALPS4",
"CMNS",
"NCMS",
"NRAS1",
"NS6"
] | [
"Q2578247",
"Q5464665"
] | [
"juvenile myelomonocytic leukemia",
"follicular thyroid cancer"
] | [
"Q12136",
"Q12136"
] | [
[
"JMML",
"Chronic Myelomonocytic Leukemia",
"JCML"
],
[
"Adenocarcinoma, Follicular",
"Follicular adenocarcinoma",
"Follicular carcinoma",
"follicular thyroid carcinoma",
"NMTC2",
"thyroid adenocarcinoma",
"thyroid gland follicular carcinoma"
]
] |
Q14903573-P2293 | P2293 | Q14903573 | RAF1 | Q7187 | [
"NS5",
"CRAF",
"CMD1NN",
"c-Raf"
] | [
"Q1364270"
] | [
"hypertrophic cardiomyopathy"
] | [
"Q12136"
] | [
[
"HCM",
"Cardiomyopathy, Hypertrophic",
"hypertrophic heart disease"
]
] |
Q18034382-P2293 | P2293 | Q18034382 | MINPP1 | Q7187 | [
"HIPER1",
"MINPP2",
"MIPP"
] | [
"Q5464665"
] | [
"follicular thyroid cancer"
] | [
"Q12136"
] | [
[
"Adenocarcinoma, Follicular",
"Follicular adenocarcinoma",
"Follicular carcinoma",
"follicular thyroid carcinoma",
"NMTC2",
"thyroid adenocarcinoma",
"thyroid gland follicular carcinoma"
]
] |
Q18034725-P2293 | P2293 | Q18034725 | ELMO1 | Q7187 | [
"CED-12",
"CED12",
"engulfment and cell motility 1"
] | [
"Q11081",
"Q11088",
"Q187255",
"Q3025883",
"Q18553852"
] | [
"Alzheimer's disease",
"coeliac disease",
"rheumatoid arthritis",
"type 2 diabetes",
"lymphoblastic leukemia"
] | [
"Q12136",
"Q12136",
"Q12136",
"Q12136",
"Q12136"
] | [
[
"AD",
"Alzheimer dementia",
"Alzheimer disease",
"Alzheimer disease, familial",
"Alzheimer's dementia",
"Alzheimers dementia"
],
[
"celiac disease",
"celiac sprue",
"endemic sprue",
"gluten enteropathy",
"idiopathic steatorrhea",
"nontropical sprue"
],
[
"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"
],
[
"lymphoid leukemia"
]
] |
Q14913201-P2293 | P2293 | Q14913201 | ACAT1 | Q7187 | [
"T2",
"MAT",
"THIL"
] | [
"Q4897218"
] | [
"beta-ketothiolase deficiency"
] | [
"Q12136"
] | [
[
"Mat Deficiency",
"BKT",
"3-ketothiolase deficiency",
"3-Ktd Deficiency",
"3-oxothiolase deficiency",
"Alpha methylacetoacetic aciduria",
"alpha-methylacetoaceticaciduria",
"peroxisomal thiolase deficiency",
"T2 Deficiency"
]
] |
Q18047355-P2293 | P2293 | Q18047355 | BRIP1 | Q7187 | [
"FANCJ",
"OF",
"BACH1"
] | [
"Q172341"
] | [
"ovarian cancer"
] | [
"Q12136"
] | [
[
"Familial ovarian malignant tumor",
"hereditary ovarian cancer",
"malignant ovarian tumor",
"malignant tumour of ovary",
"primary ovarian cancer"
]
] |
Q17907825-P2293 | P2293 | Q17907825 | CNGA1 | Q7187 | [
"RCNC1",
"RCNCa",
"RCNCalpha",
"RP49",
"CNG-1",
"CNG1",
"CNCG",
"CNCG1"
] | [
"Q847057"
] | [
"retinitis pigmentosa"
] | [
"Q12136"
] | [
[
"RP",
"pericentral pigmentary retinopathy",
"pigmentary degeneration of the retina"
]
] |
Q1022703-P2293 | P2293 | Q1022703 | ZMPSTE24 | Q7187 | [
"FACE-1",
"FACE1",
"HGPS",
"PRO1",
"Ste24p",
"zinc metallopeptidase STE24"
] | [
"Q7316329"
] | [
"Restrictive dermopathy"
] | [
"Q12136"
] | [
[
"hyperkeratosis-contracture syndrome",
"lethal restrictive dermopathy",
"tight skin contracture syndrome"
]
] |
Q18298365-P2293 | P2293 | Q18298365 | FCSK | Q7187 | [
"fucokinase",
"Fuk",
"fucose kinase",
"1110046B12Rik",
"AI303278",
"CDGF2"
] | [
"Q12174"
] | [
"obesity"
] | [
"Q12136"
] | [
[
"overweight",
"corpulence",
"fatness",
"over-weight",
"overfatness"
]
] |
Q18033998-P2293 | P2293 | Q18033998 | TRIP12 | Q7187 | [
"ULF",
"thyroid hormone receptor interactor 12"
] | [
"Q53660486"
] | [
"autosomal dominant mental retardation 49"
] | [
"Q12136"
] | [
[
"MRD49"
]
] |
Q18031100-P2293 | P2293 | Q18031100 | RFC5 | Q7187 | [
"replication factor C subunit 5",
"RFC36"
] | [
"Q12174"
] | [
"obesity"
] | [
"Q12136"
] | [
[
"overweight",
"corpulence",
"fatness",
"over-weight",
"overfatness"
]
] |
Q14904803-P2293 | P2293 | Q14904803 | DPP4 | Q7187 | [
"dipeptidyl peptidase 4",
"ADABP",
"ADCP2",
"CD26",
"DPPIV",
"TP103"
] | [
"Q187255"
] | [
"rheumatoid arthritis"
] | [
"Q12136"
] | [
[
"atrophic Arthritis",
"Malignant rheumatoid arthritis"
]
] |
Q18044964-P2293 | P2293 | Q18044964 | ARHGAP22 | Q7187 | [
"Rho GTPase activating protein 22",
"RhoGAP2",
"RhoGap22"
] | [
"Q631361"
] | [
"diabetic retinopathy"
] | [
"Q12136"
] | [
[
"diabetic eye disease",
"diabetic oculopathy",
"retinal abnormality - diabetes-related"
]
] |
Q18063267-P2293 | P2293 | Q18063267 | PSORS1C3 | Q7187 | [
"NCRNA00196"
] | [
"Q1472",
"Q18556697"
] | [
"Crohn's disease",
"human immunodeficiency virus infectious disease"
] | [
"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"
],
[
"HIV infection",
"HIV-positive",
"HIV+"
]
] |
Q18292821-P2293 | P2293 | Q18292821 | BCR | Q7187 | [
"CML",
"ALL",
"PHL",
"5133400C09Rik",
"AI561783",
"AI853148",
"BCR gene",
"BCR1",
"D22S11",
"D22S662",
"mKIAA3017"
] | [
"Q12214"
] | [
"smallpox"
] | [
"Q12136"
] | [
[
"ordinary smallpox",
"variola",
"variola vera"
]
] |
Q18047683-P2293 | P2293 | Q18047683 | NTNG2 | Q7187 | [
"NTNG1",
"bA479K20.1",
"LHLL9381",
"Lmnt2",
"NEDBASH",
"netrin G2"
] | [
"Q1485"
] | [
"systemic lupus erythematosus"
] | [
"Q12136"
] | [
[
"SLE",
"Lupus Erythematosus, systemic"
]
] |
Q18041829-P2293 | P2293 | Q18041829 | CHST12 | Q7187 | [
"C4ST-2",
"C4ST2",
"C4S-2"
] | [
"Q8277"
] | [
"multiple sclerosis"
] | [
"Q12136"
] | [
[
"MS",
"disseminated sclerosis",
"generalised multiple sclerosis",
"generalized multiple sclerosis",
"Generalized multiple sclerosis (disorder)",
"insular sclerosis",
"Multiple sclerosis; MS"
]
] |
Q18030075-P2293 | P2293 | Q18030075 | NFIA | Q7187 | [
"CTF",
"NF1-A",
"BRMUTD",
"NFI-L",
"nuclear factor I A"
] | [
"Q11088"
] | [
"coeliac disease"
] | [
"Q12136"
] | [
[
"celiac disease",
"celiac sprue",
"endemic sprue",
"gluten enteropathy",
"idiopathic steatorrhea",
"nontropical sprue"
]
] |
Q17917650-P2293 | P2293 | Q17917650 | EVC | Q7187 | [
"DWF-1",
"EvC ciliary complex subunit 1",
"EVC1",
"EVCL"
] | [
"Q181257"
] | [
"prostate cancer"
] | [
"Q12136"
] | [
[
"hereditary prostate cancer",
"malignant tumor of the prostate",
"prostate cancer, familial",
"prostatic cancer",
"tumor of the prostate"
]
] |
Q18031129-P2293 | P2293 | Q18031129 | GRK1 | Q7187 | [
"G protein-coupled receptor kinase 1",
"GPRK1",
"RHOK"
] | [
"Q32140422"
] | [
"Oguchi disease-2"
] | [
"Q12136"
] | [
[
"CSNBO2",
"OGUCHI DISEASE 2",
"Oguchi Disease type 2"
]
] |
Q18035447-P2293 | P2293 | Q18035447 | CIB2 | Q7187 | [
"KIP2",
"DFNB48",
"USH1J",
"calcium and integrin binding family member 2"
] | [
"Q9079046"
] | [
"nonsyndromic deafness"
] | [
"Q12136"
] | [
[
"Familial deafness",
"Isolated genetic deafness",
"Non-syndromic genetic deafness",
"nonsyndromic hearing loss",
"nonsyndromic hereditary hearing loss"
]
] |
Q18030071-P2293 | P2293 | Q18030071 | NFATC2 | Q7187 | [
"nuclear factor of activated T-cells 2",
"NFAT1",
"NFATP",
"nuclear factor of activated T cells 2"
] | [
"Q206901"
] | [
"amyotrophic lateral sclerosis"
] | [
"Q12136"
] | [
[
"ALS",
"Charcot disease",
"Lou Gehrig disease",
"Lou Gehrig's disease",
"motor neuron disease, bulbar"
]
] |
Q18053364-P2293 | P2293 | Q18053364 | UNC5B | Q7187 | [
"p53RDL1",
"unc-5 netrin receptor B",
"UNC5H2"
] | [
"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"
]
] |
Q18032993-P2293 | P2293 | Q18032993 | CNTNAP1 | Q7187 | [
"contactin associated protein 1",
"CASPR",
"CHN3",
"NRXN4",
"P190"
] | [
"Q55784886"
] | [
"lethal congenital contracture syndrome 7"
] | [
"Q12136"
] | [
[
"LCCS7"
]
] |
Q18031637-P2293 | P2293 | Q18031637 | SNTB1 | Q7187 | [
"DAPA1B",
"SNT2",
"59-DAP",
"A1B",
"BSYN2",
"SNT2B1",
"syntrophin beta 1",
"TIP-43"
] | [
"Q168403"
] | [
"myopia"
] | [
"Q12136"
] | [
[
"near vision",
"near-sightedness",
"short-sightedness"
]
] |
Q5198271-P2293 | P2293 | Q5198271 | CCND2 | Q7187 | [
"cyclin D2",
"KIAK0002",
"MPPH3"
] | [
"Q188874"
] | [
"colorectal cancer"
] | [
"Q12136"
] | [
[
"bowel cancer",
"colon and rectal cancer",
"colon cancer",
"Colorectal cancer, familial",
"large intestine cancer"
]
] |
Q18037069-P2293 | P2293 | Q18037069 | ANKS1A | Q7187 | [] | [
"Q12174",
"Q844935",
"Q3658562"
] | [
"obesity",
"coronary artery disease",
"non-small-cell lung carcinoma"
] | [
"Q12136",
"Q12136",
"Q12136"
] | [
[
"overweight",
"corpulence",
"fatness",
"over-weight",
"overfatness"
],
[
"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"
],
[
"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"
]
] |
Q18036628-P2293 | P2293 | Q18036628 | NT5C2 | Q7187 | [
"SPG45",
"GMP",
"cN-II",
"NT5B",
"PNT5",
"SPG65"
] | [
"Q41112"
] | [
"schizophrenia"
] | [
"Q12136"
] | [
[
"schizophrenia-1",
"dementia praecox",
"Kraepelin-Morel disease",
"Morel-Kraepelin disease"
]
] |
Q18034064-P2293 | P2293 | Q18034064 | RECQL4 | Q7187 | [
"RecQ like helicase 4",
"RECQ4"
] | [
"Q1583485",
"Q3508578",
"Q3508616"
] | [
"Rothmund-Thomson syndrome",
"rapadilino syndrome",
"Baller-Gerold syndrome"
] | [
"Q12136",
"Q12136",
"Q12136"
] | [
[
"Congenital poikiloderma",
"Poikiloderma of Rothmund-Thomson",
"Rothmund-Thomson syndrome (disorder)",
"RTS"
],
[
"Radial and patellar aplasia",
"Radial and patellar hypoplasia"
],
[
"BGS"
]
] |
Q18044238-P2293 | P2293 | Q18044238 | JCAD | Q7187 | [
"KIAA1462",
"junctional cadherin 5 associated"
] | [
"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"
]
] |
Q18030180-P2293 | P2293 | Q18030180 | CNOT2 | Q7187 | [
"CDC36",
"CCR4-NOT transcription complex subunit 2",
"HSPC131",
"IDNADFS",
"NOT2H"
] | [
"Q206901"
] | [
"amyotrophic lateral sclerosis"
] | [
"Q12136"
] | [
[
"ALS",
"Charcot disease",
"Lou Gehrig disease",
"Lou Gehrig's disease",
"motor neuron disease, bulbar"
]
] |