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---|---|---|---|---|---|---|---|---|---|
Q5007698-P2293 | P2293 | Q5007698 | C1GALT1 | Q7187 | [
"T-synthase"
] | [
"Q8277"
] | [
"multiple sclerosis"
] | [
"Q12136"
] | [
[
"MS",
"disseminated sclerosis",
"generalised multiple sclerosis",
"generalized multiple sclerosis",
"Generalized multiple sclerosis (disorder)",
"insular sclerosis",
"Multiple sclerosis; MS"
]
] |
Q18036184-P2293 | P2293 | Q18036184 | ADAMTS6 | Q7187 | [
"ADAM-TS 6"
] | [
"Q549534"
] | [
"osteosarcoma"
] | [
"Q12136"
] | [
[
"Osteogenic sarcoma",
"osteoid sarcoma",
"sarcoma of osteoid",
"Skeletal sarcoma"
]
] |
Q18065786-P2293 | P2293 | Q18065786 | C4B_2 | Q7187 | [] | [
"Q19121036"
] | [
"complement component 4b deficiency"
] | [
"Q12136"
] | [
[
"C4BD",
"C4B Deficiency"
]
] |
Q18052963-P2293 | P2293 | Q18052963 | PSORS1C1 | Q7187 | [
"C6orf16",
"SEEK1"
] | [
"Q199804",
"Q1053948"
] | [
"chronic obstructive pulmonary disease",
"Stevens-Johnson syndrome"
] | [
"Q12136",
"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"
],
[
"SJS",
"mucocutaneous ocular syndrome"
]
] |
Q18031289-P2293 | P2293 | Q18031289 | RPS6KB1 | Q7187 | [
"S6K1",
"ribosomal protein S6 kinase B1",
"p70S6 kinase",
"p70 S6KA",
"p70-alpha",
"P70-S6 Kinase 1",
"p70-S6K",
"p70(S6K)-alpha",
"p70S6K",
"S6K-beta-1",
"STK14A"
] | [
"Q8277"
] | [
"multiple sclerosis"
] | [
"Q12136"
] | [
[
"MS",
"disseminated sclerosis",
"generalised multiple sclerosis",
"generalized multiple sclerosis",
"Generalized multiple sclerosis (disorder)",
"insular sclerosis",
"Multiple sclerosis; MS"
]
] |
Q18048572-P2293 | P2293 | Q18048572 | RFT1 | Q7187 | [
"CDG1N",
"RFT1 homolog"
] | [
"Q12214"
] | [
"smallpox"
] | [
"Q12136"
] | [
[
"ordinary smallpox",
"variola",
"variola vera"
]
] |
Q18053691-P2293 | P2293 | Q18053691 | RICTOR | Q7187 | [
"PIA",
"AVO3",
"hAVO3"
] | [
"Q12174"
] | [
"obesity"
] | [
"Q12136"
] | [
[
"overweight",
"corpulence",
"fatness",
"over-weight",
"overfatness"
]
] |
Q18028022-P2293 | P2293 | Q18028022 | ITGA9 | Q7187 | [
"integrin subunit alpha 9",
"RLC",
"ALPHA-RLC",
"ITGA4L"
] | [
"Q206901",
"Q1693598"
] | [
"amyotrophic lateral sclerosis",
"nasopharynx carcinoma"
] | [
"Q12136",
"Q12136"
] | [
[
"ALS",
"Charcot disease",
"Lou Gehrig disease",
"Lou Gehrig's disease",
"motor neuron disease, bulbar"
],
[
"NPC",
"Nasopharyngeal carcinoma",
"nasopharynx cancer",
"carcinoma of nasopharynx",
"malignant Nasopharyngeal tumor",
"Nasopharynx cancer",
"Npca2"
]
] |
Q18033332-P2293 | P2293 | Q18033332 | RIPK2 | Q7187 | [
"RIP2",
"CCK",
"CARD3",
"CARDIAK",
"GIG30",
"RICK"
] | [
"Q36956"
] | [
"leprosy"
] | [
"Q12136"
] | [
[
"Hansen's disease",
"Hansen's disease, Leprosy",
"lepras"
]
] |
Q18047738-P2293 | P2293 | Q18047738 | CAPS2 | Q7187 | [
"calcyphosine 2",
"UG0636c06"
] | [
"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"
]
] |
Q18047604-P2293 | P2293 | Q18047604 | DOT1L | Q7187 | [
"KMT4"
] | [
"Q62736"
] | [
"osteoarthritis"
] | [
"Q12136"
] | [
[
"degenerative arthritis",
"degenerative joint disease",
"hypertrophic arthritis",
"osteoarthrosis",
"osteoarthrosis and allied disorder"
]
] |
Q18028076-P2293 | P2293 | Q18028076 | ITPR2 | Q7187 | [
"ANHD",
"CFAP48",
"INSP3R2",
"IP3R2"
] | [
"Q206901"
] | [
"amyotrophic lateral sclerosis"
] | [
"Q12136"
] | [
[
"ALS",
"Charcot disease",
"Lou Gehrig disease",
"Lou Gehrig's disease",
"motor neuron disease, bulbar"
]
] |
Q18051097-P2293 | P2293 | Q18051097 | SPINDOC | Q7187 | [
"C11orf84",
"chromosome 11 open reading frame 84"
] | [
"Q7331102"
] | [
"alcohol abuse"
] | [
"Q12136"
] | [
[
"alcohol use disorder",
"ethanol abuse",
"harmful use of alcohol"
]
] |
Q18052464-P2293 | P2293 | Q18052464 | TMTC3 | Q7187 | [
"SMILE",
"LIS8"
] | [
"Q55785164"
] | [
"lissencephaly 8; LIS8"
] | [
"Q12136"
] | [
[
"Lissencephaly type 8"
]
] |
Q14897652-P2293 | P2293 | Q14897652 | ROR2 | Q7187 | [
"BDB",
"receptor tyrosine kinase like orphan receptor 2",
"BDB1",
"NTRKR2"
] | [
"Q28065569"
] | [
"autosomal recessive Robinow syndrome"
] | [
"Q12136"
] | [
[
"RRS",
"COVESDEM syndrome",
"Covesdem Syndrome, Formerly",
"Robinow syndrome, autosomal recessive"
]
] |
Q18046745-P2293 | P2293 | Q18046745 | PBX4 | Q7187 | [
"PBX homeobox 4"
] | [
"Q12174"
] | [
"obesity"
] | [
"Q12136"
] | [
[
"overweight",
"corpulence",
"fatness",
"over-weight",
"overfatness"
]
] |
Q18034170-P2293 | P2293 | Q18034170 | ITM2B | Q7187 | [
"BRI",
"FBD",
"ABRI",
"integral membrane protein 2B",
"BRI2",
"BRICD2B",
"E25B",
"E3-16",
"imBRI2",
"RDGCA"
] | [
"Q50349603"
] | [
"ADan amyloidosis"
] | [
"Q12136"
] | [
[
"FDD",
"Dementia, Familial Danish",
"Familial Danish Dementia",
"Familial dementia, Danish type",
"HOOE"
]
] |
Q18029085-P2293 | P2293 | Q18029085 | MGAT5 | Q7187 | [
"glcNAc-T V",
"GNT-V",
"GNT-VA",
"MGAT5A"
] | [
"Q8277"
] | [
"multiple sclerosis"
] | [
"Q12136"
] | [
[
"MS",
"disseminated sclerosis",
"generalised multiple sclerosis",
"generalized multiple sclerosis",
"Generalized multiple sclerosis (disorder)",
"insular sclerosis",
"Multiple sclerosis; MS"
]
] |
Q17928393-P2293 | P2293 | Q17928393 | FHIT | Q7187 | [
"AP3Aase",
"fragile histidine triad",
"FRA3B"
] | [
"Q161790",
"Q168403",
"Q181923"
] | [
"Asperger syndrome",
"myopia",
"attention deficit hyperactivity disorder"
] | [
"Q12136",
"Q12136",
"Q12136"
] | [
[
"Asperger's syndrome",
"Aspergers",
"aspie",
"aspie syndrome",
"autistic psychopathy"
],
[
"near vision",
"near-sightedness",
"short-sightedness"
],
[
"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"
]
] |
Q18041842-P2293 | P2293 | Q18041842 | TRIM36 | Q7187 | [
"ANPH",
"HAPRIN",
"RBCC728",
"RNF98",
"tripartite motif containing 36"
] | [
"Q529292"
] | [
"anencephaly"
] | [
"Q12136"
] | [
[
"Anencephalus",
"isolated anencephaly/exencephaly"
]
] |
Q18027956-P2293 | P2293 | Q18027956 | INSL3 | Q7187 | [
"ley-I-L",
"RLF",
"insulin like 3",
"RLNL"
] | [
"Q966052"
] | [
"cryptorchidism"
] | [
"Q12136"
] | [
[
"Undescended testicle",
"Undescended testis",
"Cryptorchism",
"Undescended Testes",
"undescended testicles"
]
] |
Q18050033-P2293 | P2293 | Q18050033 | CPNE4 | Q7187 | [
"copine 4",
"COPN4",
"CPN4"
] | [
"Q206901"
] | [
"amyotrophic lateral sclerosis"
] | [
"Q12136"
] | [
[
"ALS",
"Charcot disease",
"Lou Gehrig disease",
"Lou Gehrig's disease",
"motor neuron disease, bulbar"
]
] |
Q18054736-P2293 | P2293 | Q18054736 | NKAIN3 | Q7187 | [
"Na+/K+ transporting ATPase interacting 3",
"Sodium/potassium transporting ATPase interacting 3",
"FAM77D"
] | [
"Q180913",
"Q520127"
] | [
"bulimia",
"periodontitis"
] | [
"Q12136",
"Q12136"
] | [
[
"hyperorexia nervosasa"
],
[
"chronic pericementitis",
"periodontium inflammation",
"periodontiumitis",
"pyorrhea"
]
] |
Q18029021-P2293 | P2293 | Q18029021 | MAP3K1 | Q7187 | [
"MAPKKK1",
"MEKK",
"MEKK 1",
"MEKK1",
"mitogen-activated protein kinase kinase kinase 1",
"SRXY6"
] | [
"Q128581"
] | [
"breast cancer"
] | [
"Q12136"
] | [
[
"breast disorder",
"malignant neoplasm of breast",
"malignant tumor of the breast",
"mammary cancer",
"primary breast cancer"
]
] |
Q18033480-P2293 | P2293 | Q18033480 | TSC22D1 | Q7187 | [
"Ptg-2",
"TGFB1I4",
"TSC22 domain family member 1"
] | [
"Q644318"
] | [
"vasculitis"
] | [
"Q12136"
] | [
[
"Angiitis",
"Vasculitis Syndrome"
]
] |
Q18049046-P2293 | P2293 | Q18049046 | BTBD9 | Q7187 | [
"BTB domain containing 9",
"dJ322I12.1"
] | [
"Q916280"
] | [
"restless legs syndrome"
] | [
"Q12136"
] | [
[
"WED",
"RLS",
"Restless Leg Syndrome",
"Willis-Ekbom disease",
"Wittmaack-Ekbom syndrome"
]
] |
Q18029562-P2293 | P2293 | Q18029562 | ND4L | Q7187 | [
"MT-ND4L",
"MTND4L"
] | [
"Q1262161"
] | [
"Leber hereditary optic neuropathy"
] | [
"Q12136"
] | [
[
"Leber's hereditary optic neuropathy",
"LHON",
"Leber's optic atrophy",
"Leber optic atrophy",
"optic atrophy, Leber's"
]
] |
Q18032095-P2293 | P2293 | Q18032095 | TRAF3 | Q7187 | [
"CAP-1",
"CD40bp",
"CRAF1",
"LAP1",
"TNF receptor associated factor 3",
"CAP1",
"IIAE5",
"RNF118"
] | [
"Q41112"
] | [
"schizophrenia"
] | [
"Q12136"
] | [
[
"schizophrenia-1",
"dementia praecox",
"Kraepelin-Morel disease",
"Morel-Kraepelin disease"
]
] |
Q5864325-P2293 | P2293 | Q5864325 | PDE10A | Q7187 | [
"phosphodiesterase 10A",
"IOLOD",
"ADSD2",
"HSPDE10A",
"LINC00473",
"PDE10A19"
] | [
"Q596474"
] | [
"conduct disorder"
] | [
"Q12136"
] | [
[
"disruptive behavior disorder"
]
] |
Q18049313-P2293 | P2293 | Q18049313 | ANTXR2 | Q7187 | [
"anthrax toxin receptor 2",
"ISH",
"ANTXR cell adhesion molecule 2",
"CMG-2",
"HFS",
"CMG2",
"JHF"
] | [
"Q52849"
] | [
"ankylosing spondylitis"
] | [
"Q12136"
] | [
[
"Bechterew's disease",
"Bekhterev syndrome",
"Bekhterev's disease",
"Marie-Strumpell disease"
]
] |
Q18035156-P2293 | P2293 | Q18035156 | GPHN | Q7187 | [
"GEPH",
"gephyrin",
"GPHRYN",
"HKPX1",
"MOCODC"
] | [
"Q4340209"
] | [
"mental depression"
] | [
"Q12136"
] | [
[]
] |
Q20763075-P2293 | P2293 | Q20763075 | LOC100506023 | Q7187 | [] | [
"Q187255"
] | [
"rheumatoid arthritis"
] | [
"Q12136"
] | [
[
"atrophic Arthritis",
"Malignant rheumatoid arthritis"
]
] |
Q5008444-P2293 | P2293 | Q5008444 | AOPEP | Q7187 | [
"AP-O",
"APO",
"C9orf3",
"aminopeptidase O (putative)",
"C90RF3",
"chromosome 9 open reading frame 3",
"ONPEP"
] | [
"Q181257",
"Q184674",
"Q500816"
] | [
"prostate cancer",
"erectile dysfunction",
"polycystic ovary syndrome"
] | [
"Q12136",
"Q12136",
"Q12136"
] | [
[
"hereditary prostate cancer",
"malignant tumor of the prostate",
"prostate cancer, familial",
"prostatic cancer",
"tumor of the prostate"
],
[
"ED",
"impotence",
"Sexual impotence",
"Dysfunction, Erectile",
"Erectile Dysfunction; ED",
"Impotence, Male",
"Impotence, Male Sexual",
"Male Impotence",
"Male Sexual Impotence",
"Sexual impotence (finding)",
"Sexual Impotence, Male"
],
[
"PCOS",
"Polycystic ovaries",
"Stein-Leventhal syndrome",
"Hyperandrogenemia",
"Multicystic ovaries",
"Pco1",
"PCOS1",
"Polycystic Ovarian disease",
"polysistic ovary syndrom",
"Stein-Leventhal synd."
]
] |
Q18032331-P2293 | P2293 | Q18032331 | VIPR2 | Q7187 | [
"PACAP-R-3",
"PACAP-R3",
"VPAC2",
"VPAC2R",
"C16DUPq36.3",
"DUP7q36.3",
"VPCAP2R"
] | [
"Q168403"
] | [
"myopia"
] | [
"Q12136"
] | [
[
"near vision",
"near-sightedness",
"short-sightedness"
]
] |
Q18037094-P2293 | P2293 | Q18037094 | NEDD4L | Q7187 | [
"RSP5",
"NEDD4.2",
"hNEDD4-2",
"NEDD4-2",
"PVNH7"
] | [
"Q206901"
] | [
"amyotrophic lateral sclerosis"
] | [
"Q12136"
] | [
[
"ALS",
"Charcot disease",
"Lou Gehrig disease",
"Lou Gehrig's disease",
"motor neuron disease, bulbar"
]
] |
Q15315135-P2293 | P2293 | Q15315135 | TERT | Q7187 | [
"TRT",
"telomerase reverse transcriptase",
"TP2",
"TCS1",
"EST2",
"DKCB4",
"PFBMFT1",
"CMM9",
"DKCA2",
"hEST2",
"HTERT",
"hTRT"
] | [
"Q47912",
"Q128581",
"Q181257",
"Q843799",
"Q1153419",
"Q1365309",
"Q2290446",
"Q18556865"
] | [
"lung cancer",
"breast cancer",
"prostate cancer",
"adenocarcinoma of the lung",
"interstitial lung disease",
"glioma",
"idiopathic pulmonary fibrosis",
"testicular germ cell cancer"
] | [
"Q12136",
"Q12136",
"Q12136",
"Q12136",
"Q12136",
"Q12136",
"Q12136",
"Q12136"
] | [
[
"malignant lung tumor",
"malignant neoplasm of lung"
],
[
"breast disorder",
"malignant neoplasm of breast",
"malignant tumor of the breast",
"mammary cancer",
"primary breast cancer"
],
[
"hereditary prostate cancer",
"malignant tumor of the prostate",
"prostate cancer, familial",
"prostatic cancer",
"tumor of the prostate"
],
[
"bronchogenic lung adenocarcinoma",
"lung adenocarcinoma",
"non-small cell lung adenocarcinoma",
"nonsmall cell adenocarcinoma",
"pulmonary adenocarcinoma"
],
[
"ILD",
"interstitial pneumonitis",
"Lung Diseases, Interstitial"
],
[
"glial cell tumor",
"glioma, malignant",
"gliomas",
"malignant glioma",
"malignant glioma - category",
"malignant neuroglial tumor",
"neuroglial tumor"
],
[
"cryptogenic fibrosing alveolitis"
],
[
"germ cell tumor of testis",
"testicular germ cell neoplasm",
"Testicular Germ Cell Tumor"
]
] |
Q18029674-P2293 | P2293 | Q18029674 | TRIM37 | Q7187 | [
"TEF3",
"tripartite motif containing 37",
"MUL",
"POB1"
] | [
"Q3335671"
] | [
"mulibrey nanism"
] | [
"Q12136"
] | [
[
"MULIBREY dwarfism",
"Perheentupa Syndrome"
]
] |
Q15317730-P2293 | P2293 | Q15317730 | MAPK1 | Q7187 | [
"ERK-2",
"ERT1",
"mitogen-activated protein kinase 1",
"p42-MAPK",
"p38",
"ERK",
"MAPK2",
"p41mapk",
"PRKM2",
"p40",
"ERK2",
"p41",
"P42MAPK",
"PRKM1"
] | [
"Q8277"
] | [
"multiple sclerosis"
] | [
"Q12136"
] | [
[
"MS",
"disseminated sclerosis",
"generalised multiple sclerosis",
"generalized multiple sclerosis",
"Generalized multiple sclerosis (disorder)",
"insular sclerosis",
"Multiple sclerosis; MS"
]
] |
Q18030982-P2293 | P2293 | Q18030982 | PYGL | Q7187 | [
"glycogen phosphorylase L",
"GSD6"
] | [
"Q18553852"
] | [
"lymphoblastic leukemia"
] | [
"Q12136"
] | [
[
"lymphoid leukemia"
]
] |
Q3011468-P2293 | P2293 | Q3011468 | DSG1 | Q7187 | [
"desmoglein 1",
"DG1",
"CDHF4",
"EPKHE",
"EPKHIA",
"PPKS1",
"SPPK1"
] | [
"Q2057356"
] | [
"eosinophilic esophagitis"
] | [
"Q12136"
] | [
[
"EoE"
]
] |
Q18035419-P2293 | P2293 | Q18035419 | SLC9A6 | Q7187 | [
"MRSA",
"solute carrier family 9 member A6",
"NHE6"
] | [
"Q28065629"
] | [
"Christianson syndrome"
] | [
"Q12136"
] | [
[
"Angelman-like syndrome x-linked",
"MRXS Christianson",
"MRXSCH",
"X-linked Angelman-like syndrome",
"X-linked intellectual disability, South African type"
]
] |
Q18026214-P2293 | P2293 | Q18026214 | GNA12 | Q7187 | [
"RMP",
"NNX3",
"G protein subunit alpha 12",
"gep"
] | [
"Q1477"
] | [
"ulcerative colitis"
] | [
"Q12136"
] | [
[
"UC",
"Colitis Ulcerative",
"hemorrhagic colitis",
"left-sided ulcerative colitis"
]
] |
Q18035466-P2293 | P2293 | Q18035466 | BATF | Q7187 | [
"BATF1",
"SFA-2",
"SFA2"
] | [
"Q8277"
] | [
"multiple sclerosis"
] | [
"Q12136"
] | [
[
"MS",
"disseminated sclerosis",
"generalised multiple sclerosis",
"generalized multiple sclerosis",
"Generalized multiple sclerosis (disorder)",
"insular sclerosis",
"Multiple sclerosis; MS"
]
] |
Q14913379-P2293 | P2293 | Q14913379 | ABCC4 | Q7187 | [
"MRP4",
"ATP binding cassette subfamily C member 4",
"MOAT-B",
"MOATB"
] | [
"Q128581"
] | [
"breast cancer"
] | [
"Q12136"
] | [
[
"breast disorder",
"malignant neoplasm of breast",
"malignant tumor of the breast",
"mammary cancer",
"primary breast cancer"
]
] |
Q18029439-P2293 | P2293 | Q18029439 | MSMB | Q7187 | [
"PSP",
"MSP",
"PRPS",
"MSPB",
"PSP94",
"HPC13",
"IGBF",
"microseminoprotein beta",
"microseminoprotein, beta-",
"PN44",
"PSP-94",
"PSP57"
] | [
"Q181257"
] | [
"prostate cancer"
] | [
"Q12136"
] | [
[
"hereditary prostate cancer",
"malignant tumor of the prostate",
"prostate cancer, familial",
"prostatic cancer",
"tumor of the prostate"
]
] |
Q18042025-P2293 | P2293 | Q18042025 | CDK5RAP2 | Q7187 | [
"CDK5 regulatory subunit associated protein 2",
"MCPH3",
"C48",
"Cep215"
] | [
"Q187255"
] | [
"rheumatoid arthritis"
] | [
"Q12136"
] | [
[
"atrophic Arthritis",
"Malignant rheumatoid arthritis"
]
] |
Q18030615-P2293 | P2293 | Q18030615 | PML | Q7187 | [
"promyelocytic leukemia",
"PML nuclear body scaffold",
"MYL",
"PP8675",
"Probable transcription factor PML",
"Promyelocytic leukemia protein",
"RNF71",
"TRIM19"
] | [
"Q168403",
"Q1572384"
] | [
"myopia",
"mammary Paget's disease"
] | [
"Q12136",
"Q12136"
] | [
[
"near vision",
"near-sightedness",
"short-sightedness"
],
[
"Paget's disease of the breast",
"mammary Paget disease",
"Paget cell neoplasm",
"Paget Cell Neoplasm",
"paget disease",
"Paget Disease",
"Paget's Cell Neoplasm",
"Paget's Disease, Mammary"
]
] |
Q18046350-P2293 | P2293 | Q18046350 | ZNF665 | Q7187 | [
"zinc finger protein 665",
"ZFP160L"
] | [
"Q35869"
] | [
"asthma"
] | [
"Q12136"
] | [
[
"exercise-induced asthma",
"Exercise induced asthma",
"asthma brionchiole",
"bronchial hyperreactivity",
"chronic obstructive asthma"
]
] |
Q414043-P2293 | P2293 | Q414043 | RELN | Q7187 | [
"RL",
"LIS2",
"reelin",
"ETL7",
"PRO1598"
] | [
"Q8277",
"Q11081",
"Q41112",
"Q756610"
] | [
"multiple sclerosis",
"Alzheimer's disease",
"schizophrenia",
"otosclerosis"
] | [
"Q12136",
"Q12136",
"Q12136",
"Q12136"
] | [
[
"MS",
"disseminated sclerosis",
"generalised multiple sclerosis",
"generalized multiple sclerosis",
"Generalized multiple sclerosis (disorder)",
"insular sclerosis",
"Multiple sclerosis; MS"
],
[
"AD",
"Alzheimer dementia",
"Alzheimer disease",
"Alzheimer disease, familial",
"Alzheimer's dementia",
"Alzheimers dementia"
],
[
"schizophrenia-1",
"dementia praecox",
"Kraepelin-Morel disease",
"Morel-Kraepelin disease"
],
[]
] |
Q18031520-P2293 | P2293 | Q18031520 | SLC1A1 | Q7187 | [
"SCZD18",
"EAAT3",
"EAAC1",
"solute carrier family 1 member 1",
"DCBXA"
] | [
"Q41112"
] | [
"schizophrenia"
] | [
"Q12136"
] | [
[
"schizophrenia-1",
"dementia praecox",
"Kraepelin-Morel disease",
"Morel-Kraepelin disease"
]
] |
Q14911688-P2293 | P2293 | Q14911688 | TM langa | Q7187 | [
"hMSH2",
"HNPCC",
"mutS homolog 2",
"COCA1",
"FCC1",
"HNPCC1",
"LCFS2"
] | [
"Q188874",
"Q736633",
"Q827497"
] | [
"colorectal cancer",
"Mismatch repair cancer syndrome",
"Muir-Torre 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"
],
[
"MRTES"
]
] |
Q14819361-P2293 | P2293 | Q14819361 | CYCS | Q7187 | [
"HCS",
"cytochrome c, somatic",
"Cytochrome c, cyt c",
"THC4"
] | [
"Q11081"
] | [
"Alzheimer's disease"
] | [
"Q12136"
] | [
[
"AD",
"Alzheimer dementia",
"Alzheimer disease",
"Alzheimer disease, familial",
"Alzheimer's dementia",
"Alzheimers dementia"
]
] |
Q18033226-P2293 | P2293 | Q18033226 | DNAH11 | Q7187 | [
"dynein axonemal heavy chain 11",
"CILD7",
"DNAHBL",
"DNAHC11",
"DNHBL",
"DPL11"
] | [
"Q467635"
] | [
"multiple myeloma"
] | [
"Q12136"
] | [
[
"plasma cell myeloma"
]
] |
Q18028916-P2293 | P2293 | Q18028916 | MC1R | Q7187 | [
"CMM5",
"Melanocortin 1 receptor",
"MSH-R",
"SHEP2"
] | [
"Q809758",
"Q18555943"
] | [
"basal-cell carcinoma",
"skin carcinoma"
] | [
"Q12136",
"Q12136"
] | [
[
"BCC",
"Basal cell cancer",
"basal cell carcinoma",
"Basal Cell Carcinoma of the Skin",
"Basal Cell Epithelioma",
"Basal cell neoplasm",
"Basal Cell Skin Carcinoma",
"Basal cell tumor",
"Epithelioma basal cell",
"Epithelioma basal cell (disorder)",
"malignant Basal cell neoplasm",
"malignant basal cell tumor",
"Nodular basal cell carcinoma",
"Polypoid basal cell carcinoma",
"Rodent ulcer",
"Skin Basal Cell Cancer",
"Skin Basal Cell Carcinoma"
],
[
"Non-melanoma skin cancer",
"carcinoma OF SKIN",
"Carcinoma of the Skin",
"carcinoma of zone of skin",
"Non-Melanoma Cancer of Skin",
"Non-Melanoma Cancer of the Skin",
"nonmelanoma skin cancer",
"Skin Cancer, Non-Melanoma",
"zone of skin carcinoma"
]
] |
Q18046347-P2293 | P2293 | Q18046347 | MYH14 | Q7187 | [
"NMHC II-C",
"myosin",
"DFNA4",
"DFNA4A",
"FP17425",
"MHC16",
"MYH17",
"myosin heavy chain 14",
"NMHC-II-C",
"PNMHH"
] | [
"Q9079046"
] | [
"nonsyndromic deafness"
] | [
"Q12136"
] | [
[
"Familial deafness",
"Isolated genetic deafness",
"Non-syndromic genetic deafness",
"nonsyndromic hearing loss",
"nonsyndromic hereditary hearing loss"
]
] |
Q14905324-P2293 | P2293 | Q14905324 | ITGAM | Q7187 | [
"CR3A",
"SLEB6",
"CD11B",
"integrin subunit alpha M",
"MAC-1",
"MAC1A",
"MO1A"
] | [
"Q1485"
] | [
"systemic lupus erythematosus"
] | [
"Q12136"
] | [
[
"SLE",
"Lupus Erythematosus, systemic"
]
] |
Q18037034-P2293 | P2293 | Q18037034 | ATP11A | Q7187 | [
"ATPase phospholipid transporting 11A",
"ATPIH",
"ATPIS"
] | [
"Q1153419"
] | [
"interstitial lung disease"
] | [
"Q12136"
] | [
[
"ILD",
"interstitial pneumonitis",
"Lung Diseases, Interstitial"
]
] |
Q18030586-P2293 | P2293 | Q18030586 | PLCG2 | Q7187 | [
"PLC-gamma-2",
"APLAID",
"FCAS3",
"phospholipase C gamma 2",
"PLC-IV"
] | [
"Q128581"
] | [
"breast cancer"
] | [
"Q12136"
] | [
[
"breast disorder",
"malignant neoplasm of breast",
"malignant tumor of the breast",
"mammary cancer",
"primary breast cancer"
]
] |
Q18034562-P2293 | P2293 | Q18034562 | LPIN2 | Q7187 | [
"lipin 2"
] | [
"Q6737634"
] | [
"Majeed syndrome"
] | [
"Q12136"
] | [
[
"CDA and CRMO"
]
] |
Q18295061-P2293 | P2293 | Q18295061 | PAWR | Q7187 | [
"2310001G03Rik",
"Par-4",
"PAR4",
"pro-apoptotic WT1 regulator"
] | [
"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"
]
] |
Q18029522-P2293 | P2293 | Q18029522 | COX3 | Q7187 | [
"cytochrome c oxidase III",
"COIII",
"MTCO3"
] | [
"Q1262161"
] | [
"Leber hereditary optic neuropathy"
] | [
"Q12136"
] | [
[
"Leber's hereditary optic neuropathy",
"LHON",
"Leber's optic atrophy",
"Leber optic atrophy",
"optic atrophy, Leber's"
]
] |
Q17928801-P2293 | P2293 | Q17928801 | FLI1 | Q7187 | [
"BDPLT21",
"EWSR2",
"SIC-1"
] | [
"Q168403"
] | [
"myopia"
] | [
"Q12136"
] | [
[
"near vision",
"near-sightedness",
"short-sightedness"
]
] |
Q14821011-P2293 | P2293 | Q14821011 | F2 | Q7187 | [
"PT",
"THPH1",
"coagulation factor II, thrombin",
"RPRGL2"
] | [
"Q3801629"
] | [
"Hypoprothrombinemia"
] | [
"Q12136"
] | [
[
"Congenital factor II deficiency",
"Dysprothrombinemia",
"Factor 2 deficiency",
"Factor II deficiency",
"prothrombin deficiency"
]
] |
Q18035033-P2293 | P2293 | Q18035033 | TRIM10 | Q7187 | [
"HERF1",
"RFB30",
"RNF9",
"tripartite motif containing 10"
] | [
"Q18556697"
] | [
"human immunodeficiency virus infectious disease"
] | [
"Q12136"
] | [
[
"HIV infection",
"HIV-positive",
"HIV+"
]
] |
Q14763023-P2293 | P2293 | Q14763023 | BIRC5 | Q7187 | [
"API4",
"baculoviral IAP repeat containing 5",
"EPR-1"
] | [
"Q520127"
] | [
"periodontitis"
] | [
"Q12136"
] | [
[
"chronic pericementitis",
"periodontium inflammation",
"periodontiumitis",
"pyorrhea"
]
] |
Q18040973-P2293 | P2293 | Q18040973 | TREM2 | Q7187 | [
"triggering receptor expressed on myeloid cells 2",
"Trem2a",
"Trem2b",
"Trem2c",
"PLOSL2"
] | [
"Q11081"
] | [
"Alzheimer's disease"
] | [
"Q12136"
] | [
[
"AD",
"Alzheimer dementia",
"Alzheimer disease",
"Alzheimer disease, familial",
"Alzheimer's dementia",
"Alzheimers dementia"
]
] |
Q18028468-P2293 | P2293 | Q18028468 | LAMP2 | Q7187 | [
"DND",
"CD107b",
"LAMPB",
"LGP-96",
"LGP110",
"lysosomal associated membrane protein 2"
] | [
"Q5220984"
] | [
"Danon disease"
] | [
"Q12136"
] | [
[
"ANTOPOL DISEASE",
"Glycogen storage cardiomyopathy",
"Glycogen Storage Disease Iib",
"Glycogen storage disease limited to the heart",
"Glycogen Storage Disease Type IIb",
"GSD due to LAMP-2 deficiency",
"Gsd Iib",
"Gsd Iib, Formerly",
"GSD2B (formerly)",
"Pseudoglycogenosis 2"
]
] |
Q18030730-P2293 | P2293 | Q18030730 | PPP3CA | Q7187 | [
"CCN1",
"ACCIID",
"CALN",
"CALNA",
"CALNA1",
"CNA1",
"IECEE",
"IECEE1",
"PPP2B",
"protein phosphatase 3 catalytic subunit alpha"
] | [
"Q131749"
] | [
"anorexia nervosa"
] | [
"Q12136"
] | [
[
"anorexia nerviosa",
"size 0"
]
] |
Q18031953-P2293 | P2293 | Q18031953 | TFAP2B | Q7187 | [
"PDA2",
"transcription factor AP-2 beta"
] | [
"Q12174",
"Q2351083",
"Q2411095"
] | [
"obesity",
"metabolic disease",
"Char syndrome"
] | [
"Q12136",
"Q12136",
"Q12136"
] | [
[
"overweight",
"corpulence",
"fatness",
"over-weight",
"overfatness"
],
[
"metabolic disorder",
"disease of metabolism",
"disorder of metabolic process",
"metabolic diseases",
"metabolic illness"
],
[]
] |
Q14906111-P2293 | P2293 | Q14906111 | DSP | Q7187 | [
"DP",
"DPI",
"desmoplakin",
"DCWHKTA",
"DPII"
] | [
"Q1153419"
] | [
"interstitial lung disease"
] | [
"Q12136"
] | [
[
"ILD",
"interstitial pneumonitis",
"Lung Diseases, Interstitial"
]
] |
Q18040177-P2293 | P2293 | Q18040177 | KCNK9 | Q7187 | [
"K2p9.1",
"KT3.2",
"potassium two pore domain channel subfamily K member 9",
"TASK-3",
"TASK3"
] | [
"Q18553391"
] | [
"Birk-Barel syndrome"
] | [
"Q12136"
] | [
[]
] |
Q18033832-P2293 | P2293 | Q18033832 | MTMR7 | Q7187 | [
"myotubularin related protein 7"
] | [
"Q49989"
] | [
"Creutzfeldt-Jakob disease"
] | [
"Q12136"
] | [
[
"CJD",
"Classic Creutzfeldt-Jakob Disease",
"Creutzfeldt Jacob syndrome",
"Creutzfeldt Jakob disease",
"Creutzfeldt-Jacob disease",
"Jakob-Creutzfeldt disease",
"Transmissible virus dementia",
"Transmissible virus dementia (disorder)"
]
] |
Q18058362-P2293 | P2293 | Q18058362 | CCDC88C | Q7187 | [
"SCA40",
"coiled-coil domain containing 88C",
"DAPLE",
"HKRP2",
"HYC1",
"KIAA1509"
] | [
"Q128581"
] | [
"breast cancer"
] | [
"Q12136"
] | [
[
"breast disorder",
"malignant neoplasm of breast",
"malignant tumor of the breast",
"mammary cancer",
"primary breast cancer"
]
] |
Q18046308-P2293 | P2293 | Q18046308 | KCTD17 | Q7187 | [
"potassium channel tetramerization domain containing 17"
] | [
"Q30989223"
] | [
"myoclonic dystonia 26"
] | [
"Q12136"
] | [
[
"DYT26",
"myoclonic dystonia type 26"
]
] |
Q15320780-P2293 | P2293 | Q15320780 | MLPH | Q7187 | [
"melanophilin",
"SLAC2-A"
] | [
"Q181257"
] | [
"prostate cancer"
] | [
"Q12136"
] | [
[
"hereditary prostate cancer",
"malignant tumor of the prostate",
"prostate cancer, familial",
"prostatic cancer",
"tumor of the prostate"
]
] |
Q4044993-P2293 | P2293 | Q4044993 | NPAS3 | Q7187 | [
"neuronal PAS domain protein 3",
"bHLHe12",
"MOP6",
"PASD6"
] | [
"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"
],
[]
] |
Q18027836-P2293 | P2293 | Q18027836 | IL6R | Q7187 | [
"gp80",
"interleukin 6 receptor",
"CD126",
"IL-6RA",
"IL-6R-1",
"IL6Q",
"IL6RA",
"IL6RQ",
"Interleukin-6 receptor"
] | [
"Q35869",
"Q187255"
] | [
"asthma",
"rheumatoid arthritis"
] | [
"Q12136",
"Q12136"
] | [
[
"exercise-induced asthma",
"Exercise induced asthma",
"asthma brionchiole",
"bronchial hyperreactivity",
"chronic obstructive asthma"
],
[
"atrophic Arthritis",
"Malignant rheumatoid arthritis"
]
] |
Q14886374-P2293 | P2293 | Q14886374 | GLA | Q7187 | [
"GALA",
"galactosidase alpha"
] | [
"Q615645"
] | [
"Fabry disease"
] | [
"Q12136"
] | [
[
"FD",
"Fabry's disease",
"alpha galactosidase deficiency",
"alpha-galactosidase A deficiency",
"Anderson-Fabry disease",
"deficiency of melibiase",
"Diffuse angiokeratoma",
"Fabry Disease, Cardiac Variant",
"Fabry's disease (disorder)",
"Gla Deficiency",
"Hereditary Dystopic Lipidosis"
]
] |
Q18049345-P2293 | P2293 | Q18049345 | LYZL2 | Q7187 | [
"lysozyme like 2",
"LYZD2"
] | [
"Q133772"
] | [
"dental caries"
] | [
"Q12136"
] | [
[
"cavities",
"dental caries extending into pulp",
"dental caries of smooth surface",
"dental caries pit and fissure",
"tooth decay"
]
] |
Q18033875-P2293 | P2293 | Q18033875 | SLC6A5 | Q7187 | [
"solute carrier family 6 member 5",
"NET1",
"GLYT2",
"Glycine transporter 2",
"GLYT-2",
"HKPX3"
] | [
"Q12174"
] | [
"obesity"
] | [
"Q12136"
] | [
[
"overweight",
"corpulence",
"fatness",
"over-weight",
"overfatness"
]
] |
Q18037003-P2293 | P2293 | Q18037003 | PRRC2C | Q7187 | [
"BAT2-iso",
"BAT2D1",
"BAT2L2",
"proline rich coiled-coil 2C",
"XTP2"
] | [
"Q11081"
] | [
"Alzheimer's disease"
] | [
"Q12136"
] | [
[
"AD",
"Alzheimer dementia",
"Alzheimer disease",
"Alzheimer disease, familial",
"Alzheimer's dementia",
"Alzheimers dementia"
]
] |
Q17854673-P2293 | P2293 | Q17854673 | CACNA1D | Q7187 | [
"SANDD",
"CACH3",
"CACN4",
"CACNL1A2",
"calcium voltage-gated channel subunit alpha1 D",
"Cav1.3",
"CCHL1A2",
"PASNA"
] | [
"Q470427"
] | [
"refractive error"
] | [
"Q12136"
] | [
[
"refraction or accommodation disorder",
"Abnormality of refraction",
"ametropia",
"disorder of refraction",
"eye refraction disorder",
"refraction error",
"refractive disorder",
"Refractive errors"
]
] |
Q17859892-P2293 | P2293 | Q17859892 | CDH8 | Q7187 | [
"cadherin 8",
"Nbla04261"
] | [
"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"
]
] |
Q18056221-P2293 | P2293 | Q18056221 | NHLRC1 | Q7187 | [
"EPM2A",
"bA204B7.2",
"EPM2B",
"MALIN"
] | [
"Q163905"
] | [
"Lafora disease"
] | [
"Q12136"
] | [
[
"Melf",
"EPM2",
"Epilepsy progressive myoclonic 2",
"Lafora Body Disease",
"Lafora body disorder",
"Lafora disease (disorder)",
"Lafora's disease",
"PME type 2",
"Progressive myoclonic epilepsy type 2",
"Progressive myoclonus epilepsy type 2"
]
] |
Q18030407-P2293 | P2293 | Q18030407 | PDE4B | Q7187 | [
"DPDE4",
"PDEIVB",
"phosphodiesterase 4B"
] | [
"Q18553852"
] | [
"lymphoblastic leukemia"
] | [
"Q12136"
] | [
[
"lymphoid leukemia"
]
] |
Q18049538-P2293 | P2293 | Q18049538 | AGBL1 | Q7187 | [
"CCP4",
"ATP/GTP binding protein like 1",
"ATP/GTP binding protein-like 1",
"FECD8"
] | [
"Q41112"
] | [
"schizophrenia"
] | [
"Q12136"
] | [
[
"schizophrenia-1",
"dementia praecox",
"Kraepelin-Morel disease",
"Morel-Kraepelin disease"
]
] |
Q18055569-P2293 | P2293 | Q18055569 | TGM6 | Q7187 | [
"TGY",
"transglutaminase 6",
"dJ734P14.3",
"SCA35",
"TG6",
"TGM3L"
] | [
"Q11081"
] | [
"Alzheimer's disease"
] | [
"Q12136"
] | [
[
"AD",
"Alzheimer dementia",
"Alzheimer disease",
"Alzheimer disease, familial",
"Alzheimer's dementia",
"Alzheimers dementia"
]
] |
Q14875866-P2293 | P2293 | Q14875866 | MET | Q7187 | [
"DFNB97",
"c-Met",
"HGFR",
"AUTS9",
"OSFD",
"RCCP2"
] | [
"Q8277",
"Q55783494"
] | [
"multiple sclerosis",
"osteofibrous dysplasia"
] | [
"Q12136",
"Q12136"
] | [
[
"MS",
"disseminated sclerosis",
"generalised multiple sclerosis",
"generalized multiple sclerosis",
"Generalized multiple sclerosis (disorder)",
"insular sclerosis",
"Multiple sclerosis; MS"
],
[
"OFD",
"Cortical Fibrous Dysplasia",
"Kempson-Campanacci Lesion",
"Ossifying Fibroma of Long Bones"
]
] |
Q18051065-P2293 | P2293 | Q18051065 | VTI1A | Q7187 | [
"Vti1-rp2",
"MMDS3",
"MVti1",
"VTI1RP2"
] | [
"Q8277",
"Q47912"
] | [
"multiple sclerosis",
"lung cancer"
] | [
"Q12136",
"Q12136"
] | [
[
"MS",
"disseminated sclerosis",
"generalised multiple sclerosis",
"generalized multiple sclerosis",
"Generalized multiple sclerosis (disorder)",
"insular sclerosis",
"Multiple sclerosis; MS"
],
[
"malignant lung tumor",
"malignant neoplasm of lung"
]
] |
Q18036441-P2293 | P2293 | Q18036441 | SP140 | Q7187 | [
"LYSP100",
"LYSP100-A",
"LYSP100-B",
"SP140 nuclear body protein"
] | [
"Q1472",
"Q8277"
] | [
"Crohn's disease",
"multiple sclerosis"
] | [
"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"
]
] |
Q18027877-P2293 | P2293 | Q18027877 | IL12RB2 | Q7187 | [
"interleukin 12 receptor subunit beta 2",
"Interleukin 12 receptor, beta 2 subunit"
] | [
"Q1072420"
] | [
"primary biliary cirrhosis"
] | [
"Q12136"
] | [
[
"PBC",
"biliary liver cirrhosis",
"cholestatic cirrhosis",
"primary biliary cholangitis",
"Primary biliary cholangitis"
]
] |
Q14908113-P2293 | P2293 | Q14908113 | TSC1 | Q7187 | [
"LAM",
"TSC complex subunit 1",
"tuberous sclerosis 1"
] | [
"Q179945"
] | [
"psoriasis"
] | [
"Q12136"
] | [
[]
] |
Q18052392-P2293 | P2293 | Q18052392 | FREM1 | Q7187 | [
"MOTA",
"FRAS1 related extracellular matrix 1",
"BNAR",
"C9orf143",
"C9orf145",
"C9orf154",
"TILRR",
"TRIGNO2"
] | [
"Q1760294",
"Q55783626"
] | [
"trigonocephaly",
"BNAR syndrome"
] | [
"Q12136",
"Q12136"
] | [
[
"Craniosynostosis, Metopic",
"Trigono 2",
"Trigono2",
"trigonocephalia",
"trigonocephalus",
"Trigonocephaly 2",
"Trigonocephaly type 2"
],
[]
] |
Q17858168-P2293 | P2293 | Q17858168 | CD6 | Q7187 | [
"CD6 molecule",
"TP120"
] | [
"Q8277"
] | [
"multiple sclerosis"
] | [
"Q12136"
] | [
[
"MS",
"disseminated sclerosis",
"generalised multiple sclerosis",
"generalized multiple sclerosis",
"Generalized multiple sclerosis (disorder)",
"insular sclerosis",
"Multiple sclerosis; MS"
]
] |
Q18016440-P2293 | P2293 | Q18016440 | ARNTL | Q7187 | [
"TIC",
"bHLHe5",
"BMAL1",
"BMAL1c",
"JAP3",
"MOP3",
"PASD3"
] | [
"Q41112"
] | [
"schizophrenia"
] | [
"Q12136"
] | [
[
"schizophrenia-1",
"dementia praecox",
"Kraepelin-Morel disease",
"Morel-Kraepelin disease"
]
] |
Q15316113-P2293 | P2293 | Q15316113 | CDH13 | Q7187 | [
"P105",
"cadherin 13",
"CDHH"
] | [
"Q41112",
"Q181923",
"Q520127",
"Q4340209"
] | [
"schizophrenia",
"attention deficit hyperactivity disorder",
"periodontitis",
"mental depression"
] | [
"Q12136",
"Q12136",
"Q12136",
"Q12136"
] | [
[
"schizophrenia-1",
"dementia praecox",
"Kraepelin-Morel disease",
"Morel-Kraepelin disease"
],
[
"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"
],
[
"chronic pericementitis",
"periodontium inflammation",
"periodontiumitis",
"pyorrhea"
],
[]
] |
Q18042944-P2293 | P2293 | Q18042944 | PELI1 | Q7187 | [] | [
"Q265936",
"Q268667"
] | [
"Kawasaki disease",
"atopic dermatitis"
] | [
"Q12136",
"Q12136"
] | [
[
"Kd",
"Kawasaki's disease",
"acute febrile MCLS",
"Infantile Polyarteritis",
"Infantile Polyarteritis Nodosa",
"Kawasaki disease, KD",
"MLNS",
"mucocutaneous lymph node syndrome"
],
[
"atopic dermatitis and related conditions",
"Allergic",
"Besnier's prurigo",
"allergic dermatitis",
"Atopic dermatitis (disorder)",
"atopic eczema",
"Atopic neurodermatitis"
]
] |
Q18025996-P2293 | P2293 | Q18025996 | GJB2 | Q7187 | [
"KID",
"DFNA3",
"PPK",
"HID",
"BAPS",
"CX26",
"DFNA3A",
"DFNB1",
"DFNB1A",
"gap junction protein beta 2",
"NSRD1"
] | [
"Q4865826",
"Q7939442",
"Q55788734"
] | [
"Bart-Pumphrey syndrome",
"Vohwinkel syndrome",
"syndromic genetic deafness"
] | [
"Q12136",
"Q12136",
"Q12136"
] | [
[],
[
"Mutilating Keratoderma",
"PPK mutilans and deafness"
],
[]
] |
Q18044490-P2293 | P2293 | Q18044490 | DENND1A | Q7187 | [
"DENN domain containing 1A",
"FAM31A",
"KIAA1608"
] | [
"Q168403",
"Q500816"
] | [
"myopia",
"polycystic ovary syndrome"
] | [
"Q12136",
"Q12136"
] | [
[
"near vision",
"near-sightedness",
"short-sightedness"
],
[
"PCOS",
"Polycystic ovaries",
"Stein-Leventhal syndrome",
"Hyperandrogenemia",
"Multicystic ovaries",
"Pco1",
"PCOS1",
"Polycystic Ovarian disease",
"polysistic ovary syndrom",
"Stein-Leventhal synd."
]
] |
Q18058487-P2293 | P2293 | Q18058487 | IRF1-AS1 | Q7187 | [
"C5orf56",
"chromosome 5 open reading frame 56",
"IRF1 antisense RNA 1"
] | [
"Q35869"
] | [
"asthma"
] | [
"Q12136"
] | [
[
"exercise-induced asthma",
"Exercise induced asthma",
"asthma brionchiole",
"bronchial hyperreactivity",
"chronic obstructive asthma"
]
] |