uuid
stringlengths
9
16
predicate_id
stringclasses
5 values
sub_uri
stringlengths
3
10
sub_label
stringlengths
2
46
sub_type
stringclasses
6 values
sub_aliases
sequencelengths
0
556
obj_uris
sequencelengths
1
95
obj_labels
sequencelengths
1
95
obj_types
sequencelengths
1
95
obj_aliases
sequencelengths
1
95
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" ] ]