RGD DISEASE ONTOLOGY - ANNOTATIONS
RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
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ABCC2
ATP binding cassette subfamily C member 2
susceptibility
IAGP
DNA:polymorphism:exon:c.3972C>T (human)
RGD
PMID:19451719
RGD:2317508
NCBI chr10:99,782,640...99,852,594
Ensembl chr10:99,782,640...99,852,594
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ADRB2
adrenoceptor beta 2
IEP
protein:decreased expression:liver
RGD
PMID:16292515
RGD:2325640
NCBI chr 5:148,826,611...148,828,623
Ensembl chr 5:148,826,611...148,828,623
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ALB
albumin
disease_progression
IEP IDA
RGD
PMID:20431764 PMID:10776430 PMID:17545000
RGD:2325679 , RGD:2325682 , RGD:2325680
NCBI chr 4:73,404,287...73,421,482
Ensembl chr 4:73,397,114...73,421,482
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ALOX5
arachidonate 5-lipoxygenase
IEP
protein:increased expression:bile duct
RGD
PMID:18507031
RGD:2317521
NCBI chr10:45,374,216...45,446,117
Ensembl chr10:45,374,176...45,446,119
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ANXA2
annexin A2
disease_progression
IEP
RGD
PMID:20493868
RGD:2325728
NCBI chr15:60,347,151...60,397,986
Ensembl chr15:60,347,134...60,402,883
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ANXA8
annexin A8
IEP
RGD
PMID:19376120
RGD:2325733
NCBI chr10:47,467,993...47,991,796
Ensembl chr10:47,460,162...47,484,158
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APC
APC regulator of WNT signaling pathway
IDA IAGP
DNA:hypermethylation:promoter DNA:loss of heterozygosity
RGD
PMID:15467712 PMID:10212000
RGD:2317198 , RGD:2317205
NCBI chr 5:112,707,498...112,846,239
Ensembl chr 5:112,707,518...112,846,239
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APOA1
apolipoprotein A1
IEP
protein:decreased expression:serum
RGD
PMID:19486127
RGD:2325756
NCBI chr11:116,835,751...116,837,622
Ensembl chr11:116,835,751...116,837,622
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ARID1A
AT-rich interaction domain 1A
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:24185509
NCBI chr 1:26,696,015...26,782,104
Ensembl chr 1:26,693,236...26,782,104
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ASPH
aspartate beta-hydroxylase
IDA
RGD
PMID:21898484
RGD:6902945
NCBI chr 8:61,500,556...61,714,592
Ensembl chr 8:61,500,556...61,714,640
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ATG101
autophagy related 101
disease_progression
IEP
RGD
PMID:35592424
RGD:153350091
NCBI chr12:52,065,300...52,077,495
Ensembl chr12:52,069,246...52,077,495
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BAP1
BRCA1 associated deubiquitinase 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:24185509 PMID:25231345
NCBI chr 3:52,401,008...52,410,008
Ensembl chr 3:52,401,008...52,410,008
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BIRC6
baculoviral IAP repeat containing 6
ameliorates
HEP
mRNA:increased expression:bile duct (human)
RGD
PMID:31964418
RGD:153344516
NCBI chr 2:32,357,023...32,618,878
Ensembl chr 2:32,357,023...32,619,571
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BRAF
B-Raf proto-oncogene, serine/threonine kinase
IAGP
DNA:missense mutation:cds:p.V600E (human)
RGD
PMID:12692057
RGD:11073239
NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929
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CDKN2A
cyclin dependent kinase inhibitor 2A
onset
IEP
protein:decreased expression:liver
RGD
PMID:15619210
RGD:2317417
NCBI chr 9:21,967,752...21,995,324
Ensembl chr 9:21,967,752...21,995,301
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CST1
cystatin SN
disease_progression
IEP
mRNA:altered expression:liver (human)
RGD
PMID:31687280
RGD:152998978
NCBI chr20:23,747,562...23,750,935
Ensembl chr20:23,747,562...23,751,268
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CXCL8
C-X-C motif chemokine ligand 8
IAGP
ClinVar Annotator: match by term: Cholangiocarcinoma
ClinVar
PMID:18550579
NCBI chr 4:73,740,569...73,743,716
Ensembl chr 4:73,740,519...73,743,716
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CXCR1
C-X-C motif chemokine receptor 1
IAGP
ClinVar Annotator: match by term: Cholangiocarcinoma
ClinVar
PMID:18550579
NCBI chr 2:218,162,841...218,166,962
Ensembl chr 2:218,162,841...218,166,962
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CYCS
cytochrome c, somatic
IDA
RGD
PMID:19788692
RGD:2317615
NCBI chr 7:25,118,656...25,125,260
Ensembl chr 7:25,118,656...25,125,260
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CYP24A1
cytochrome P450 family 24 subfamily A member 1
HEP
protein:increased expression:intrahepatic bile, extrahepatic bile duct (human)
RGD
PMID:23375797
RGD:151361187
NCBI chr20:54,143,538...54,173,986
Ensembl chr20:54,153,446...54,173,986
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EGF
epidermal growth factor
IAGP
ClinVar Annotator: match by term: Cholangiocarcinoma
ClinVar
PMID:18550579 PMID:25741868 PMID:28492532
NCBI chr 4:109,912,883...110,013,766
Ensembl chr 4:109,912,883...110,013,766
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EGFR
epidermal growth factor receptor
EXP IAGP
CTD Direct Evidence: therapeutic ClinVar Annotator: match by term: Cholangiocarcinoma
CTD ClinVar
PMID:17341899 PMID:18550579 PMID:24728327 PMID:25741868 PMID:28492532
NCBI chr 7:55,019,017...55,211,628
Ensembl chr 7:55,019,017...55,211,628
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EPO
erythropoietin
ISO
mRNA, protein:increased expression:liver
RGD
PMID:23052842
RGD:10400912
NCBI chr 7:100,720,468...100,723,700
Ensembl chr 7:100,720,468...100,723,700
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EPOR
erythropoietin receptor
ISO
mRNA, protein:increased expression:liver
RGD
PMID:23052842
RGD:10400912
NCBI chr19:11,377,207...11,384,314
Ensembl chr19:11,377,207...11,384,342
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ERBB2
erb-b2 receptor tyrosine kinase 2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:16818635
NCBI chr17:39,688,094...39,728,658
Ensembl chr17:39,687,914...39,730,426
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EZH2
enhancer of zeste 2 polycomb repressive complex 2 subunit
disease_progression no_association
IAGP
DNA:SNP: :g.148505302C>T (rs887569) (human) DNA:SNPs: :g.148525904C>G, (rs2302427), g.148519011C>T (rs6464926), g.148517456T>G (rs17171119) (human)
RGD
PMID:24179546 PMID:24179546
RGD:126779604 , RGD:126779604
NCBI chr 7:148,807,383...148,884,291
Ensembl chr 7:148,807,257...148,884,321
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FAM66C
family with sequence similarity 66 member C
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:34418280
NCBI chr12:8,180,209...8,201,000
Ensembl chr12:8,180,204...8,226,278
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FASLG
Fas ligand
IDA
RGD
PMID:11029528
RGD:2317746
NCBI chr 1:172,659,103...172,666,876
Ensembl chr 1:172,659,103...172,666,876
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FGF2
fibroblast growth factor 2
IEP
protein:increased expression:bile
RGD
PMID:11478488
RGD:2317765
NCBI chr 4:122,826,682...122,898,236
Ensembl chr 4:122,826,682...122,898,236
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FGFR2
fibroblast growth factor receptor 2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:26258846
NCBI chr10:121,478,330...121,598,458
Ensembl chr10:121,478,332...121,598,458
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FSCN1
fascin actin-bundling protein 1
disease_progression
IEP
protein:increased expression:bile ducts
RGD
PMID:19721413
RGD:2317780
NCBI chr 7:5,592,816...5,606,655
Ensembl chr 7:5,592,816...5,606,655
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GNAS
GNAS complex locus
disease_progression
IAGP EXP
DNA:polymorphism:393T>C (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:22561520 PMID:17356712
RGD:1601377
NCBI chr20:58,839,748...58,911,192
Ensembl chr20:58,839,718...58,911,192
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GSTM1
glutathione S-transferase mu 1
IAGP
RGD
PMID:24049014
RGD:14700980
NCBI chr 1:109,687,817...109,693,745
Ensembl chr 1:109,687,814...109,709,039
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GSTP1
glutathione S-transferase pi 1
treatment
IDA IMP
DNA:hypermethylation:promoter human cell line in a mouse model
RGD
PMID:15467712 PMID:12805482
RGD:2317198 , RGD:14401711
NCBI chr11:67,583,812...67,586,653
Ensembl chr11:67,583,742...67,586,656
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HDAC6
histone deacetylase 6
IEP
protein:increased expression:liver:
RGD
PMID:23370327
RGD:9681560
NCBI chr X:48,801,398...48,824,982
Ensembl chr X:48,801,377...48,824,982
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HGF
hepatocyte growth factor
ISO IEP
mRNA, protein:increased expression: : protein:increased expression:serum
RGD
PMID:10827151 PMID:16974053
RGD:2317925 , RGD:2317909
NCBI chr 7:81,699,010...81,770,047
Ensembl chr 7:81,699,010...81,770,438
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HIF1A
hypoxia inducible factor 1 subunit alpha
IAGP
ClinVar Annotator: match by term: Cholangiocarcinoma
ClinVar
PMID:12919954 PMID:18550579 PMID:22647679 PMID:24120591 PMID:25741868
NCBI chr14:61,695,513...61,748,258
Ensembl chr14:61,695,513...61,748,259
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HIF1A-AS3
HIF1A antisense RNA 3
IAGP
ClinVar Annotator: match by term: Cholangiocarcinoma
ClinVar
PMID:12919954 PMID:18550579 PMID:22647679 PMID:24120591 PMID:25741868
NCBI chr14:61,715,558...61,751,097
Ensembl chr14:61,678,402...61,751,163
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IDH1
isocitrate dehydrogenase (NADP(+)) 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:24185509
NCBI chr 2:208,236,227...208,255,071
Ensembl chr 2:208,236,229...208,266,074
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IDH2
isocitrate dehydrogenase (NADP(+)) 2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:24185509
NCBI chr15:90,083,045...90,102,468
Ensembl chr15:90,083,045...90,102,477
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IL10
interleukin 10
IAGP
ClinVar Annotator: match by term: Cholangiocarcinoma
ClinVar
PMID:11121048 PMID:14657422 PMID:14657427 PMID:18550579 PMID:25741868 PMID:28492532 More...
NCBI chr 1:206,767,602...206,772,494
Ensembl chr 1:206,767,602...206,774,541
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IL19
interleukin 19
IAGP
ClinVar Annotator: match by term: Cholangiocarcinoma
ClinVar
PMID:11121048 PMID:14657422 PMID:14657427 PMID:18550579 PMID:25741868 PMID:28492532 More...
NCBI chr 1:206,770,773...206,842,981
Ensembl chr 1:206,770,764...206,842,981
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IL1B
interleukin 1 beta
IAGP
ClinVar Annotator: match by term: Cholangiocarcinoma
ClinVar
PMID:18550579
NCBI chr 2:112,829,751...112,836,779
Ensembl chr 2:112,829,751...112,836,816
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IL1R2
interleukin 1 receptor type 2
disease_progression
IEP
mRNA:altered expression:liver (human)
RGD
PMID:31687280
RGD:152998978
NCBI chr 2:101,991,960...102,028,544
Ensembl chr 2:101,991,960...102,028,544
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IL4R
interleukin 4 receptor
IEP
mRNA:increased expression:bile duct
RGD
PMID:18798553
RGD:2317263
NCBI chr16:27,313,756...27,364,778
Ensembl chr16:27,313,668...27,364,778
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IL6
interleukin 6
IEP IAGP EXP
ClinVar Annotator: match by term: Cholangiocarcinoma protein:increased expression:serum CTD Direct Evidence: marker/mechanism
ClinVar CTD RGD
PMID:9769329 PMID:10720087 PMID:11001912 PMID:11889177 PMID:12519862 PMID:12560873 PMID:12719374 PMID:15070960 PMID:15331795 PMID:15472205 PMID:16150725 PMID:16278864 PMID:17621267 PMID:17623760 PMID:18550579 PMID:15011822 PMID:28925763 More...
RGD:2317167 , RGD:14975292
NCBI chr 7:22,727,200...22,731,998
Ensembl chr 7:22,725,884...22,732,002
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IL6-AS1
IL6 antisense RNA 1
IAGP
ClinVar Annotator: match by term: Cholangiocarcinoma
ClinVar
PMID:9769329 PMID:10720087 PMID:11001912 PMID:11889177 PMID:12519862 PMID:12560873 PMID:12719374 PMID:15070960 PMID:15331795 PMID:15472205 PMID:16150725 PMID:16278864 PMID:17623760 PMID:18550579 More...
NCBI chr 7:22,725,395...22,727,620
Ensembl chr 7:22,725,395...22,727,620
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INS
insulin
disease_progression
IEP
mRNA:altered expression:liver (human)
RGD
PMID:31687280
RGD:152998978
NCBI chr11:2,159,779...2,161,209
Ensembl chr11:2,159,779...2,161,221
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KCND2
potassium voltage-gated channel subfamily D member 2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:34418280
NCBI chr 7:120,272,908...120,750,337
Ensembl chr 7:120,273,175...120,750,337
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KIT
KIT proto-oncogene, receptor tyrosine kinase
disease_progression
IEP
mRNA:altered expression:liver (human)
RGD
PMID:31687280
RGD:152998978
NCBI chr 4:54,657,957...54,740,715
Ensembl chr 4:54,657,267...54,740,783
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KMT2C
lysine methyltransferase 2C
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:22561520
NCBI chr 7:152,134,925...152,436,003
Ensembl chr 7:152,134,922...152,436,644
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KRAS
KRAS proto-oncogene, GTPase
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:8968066 PMID:22561520
NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936
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KRT7
keratin 7
IEP
RGD
PMID:18393293
RGD:2317308
NCBI chr12:52,233,243...52,255,853
Ensembl chr12:52,232,520...52,252,186
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LOC126859963
BRD4-independent group 4 enhancer GRCh37_chr7:22766269-22767468
IAGP
ClinVar Annotator: match by term: Cholangiocarcinoma
ClinVar
PMID:9769329 PMID:10720087 PMID:11001912 PMID:11889177 PMID:12519862 PMID:12560873 PMID:12719374 PMID:15070960 PMID:15331795 PMID:15472205 PMID:16150725 PMID:16278864 PMID:17623760 PMID:18550579 More...
NCBI chr 7:22,726,650...22,727,849
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MDM2
MDM2 proto-oncogene
disease_progression
IEP
protein:increased expression:intrahepatic bile duct (human)
RGD
PMID:15619210
RGD:2317417
NCBI chr12:68,808,172...68,850,686
Ensembl chr12:68,808,177...68,845,544
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MET
MET proto-oncogene, receptor tyrosine kinase
disease_progression
IEP ISO
protein:increased phosphorylation:liver, carcinoma (human) protein:increased expression:liver, biliary epithelium (rat)
RGD
PMID:16818635 PMID:14656942
RGD:2317578 , RGD:2317601
NCBI chr 7:116,672,196...116,798,377
Ensembl chr 7:116,672,196...116,798,377
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MFSD4A
major facilitator superfamily domain containing 4A
disease_progression
IEP
mRNA:altered expression:liver (human)
RGD
PMID:31687280
RGD:152998978
NCBI chr 1:205,569,014...205,602,918
Ensembl chr 1:205,568,885...205,602,918
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MGMT
O-6-methylguanine-DNA methyltransferase
IAGP
DNA:hypermethylation:promoter (human)
RGD
PMID:17550320
RGD:2317632
NCBI chr10:129,467,241...129,770,983
Ensembl chr10:129,467,190...129,770,983
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MIR155
microRNA 155
IEP
miRNA:increased expression:serum
RGD
PMID:30653586
RGD:21081530
NCBI chr21:25,573,980...25,574,044
Ensembl chr21:25,573,980...25,574,044
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MIR192
microRNA 192
IEP
RNA:increased expression:urine
RGD
PMID:26456596
RGD:41404678
NCBI chr11:64,891,137...64,891,246
Ensembl chr11:64,891,137...64,891,246
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MIR21
microRNA 21
IEP
RNA:increased expression:urine
RGD
PMID:26456596
RGD:41404678
NCBI chr17:59,841,266...59,841,337
Ensembl chr17:59,841,266...59,841,337
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MIR23B
microRNA 23b
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:34418280
NCBI chr 9:95,085,208...95,085,304
Ensembl chr 9:95,085,208...95,085,304
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MIR494
microRNA 494
severity exacerbates
IEP IMP
RGD
PMID:30314946 PMID:30314946
RGD:156420141 , RGD:156420141
NCBI chr14:101,029,634...101,029,714
Ensembl chr14:101,029,634...101,029,714
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MKI67
marker of proliferation Ki-67
disease_progression
IEP
RGD
PMID:12903495
RGD:2317705
NCBI chr10:128,096,659...128,126,423
Ensembl chr10:128,096,659...128,126,423
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MMP2
matrix metallopeptidase 2
disease_progression
ISO IEP
protein:increased expression:bile duct
RGD
PMID:15213623 PMID:19629755
RGD:2324667 , RGD:2325769
NCBI chr16:55,478,830...55,506,691
Ensembl chr16:55,389,700...55,506,691
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MMP9
matrix metallopeptidase 9
IEP ISO
mRNA:increased expression:bile duct protein:increased expression:bile duct
RGD
PMID:16463672 PMID:15213623 PMID:15213623
RGD:2325856 , RGD:2324667 , RGD:2324667
NCBI chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561
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MSLN
mesothelin
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:14576474
NCBI chr16:760,734...768,865
Ensembl chr16:760,734...768,865
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MTHFR
methylenetetrahydrofolate reductase
susceptibility
IAGP
DNA:polymorphism (human)
RGD
PMID:17201138
RGD:2317119
NCBI chr 1:11,785,723...11,805,964
Ensembl chr 1:11,785,723...11,806,455
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MUC1
mucin 1, cell surface associated
disease_progression
IEP ISO
mRNA:increased expression:bile duct protein:increased expression:bile duct: protein:increased expression:serum protein:increased secretion:bile
RGD
PMID:19639217 PMID:18081149 PMID:15213623 PMID:19260467 PMID:19055478
RGD:2317986 , RGD:2324638 , RGD:2324667 , RGD:2324664 , RGD:2324622
NCBI chr 1:155,185,824...155,192,915
Ensembl chr 1:155,185,824...155,192,916
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MUC16
mucin 16, cell surface associated
IEP
associated with Opisthorchiasis;protein:increased expression:serum
RGD
PMID:1653472
RGD:2325142
NCBI chr19:8,848,844...9,065,751
Ensembl chr19:8,848,844...9,010,390
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MUC2
mucin 2, oligomeric mucus/gel-forming
IEP
mRNA:decreased expression:bile duct
RGD
PMID:11680592
RGD:2324948
NCBI chr11:1,074,874...1,110,508
Ensembl chr11:1,074,875...1,110,511
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MUC3A
mucin 3A, cell surface associated
IEP
mRNA:decreased expression:bile duct
RGD
PMID:11680592
RGD:2324948
NCBI chr 7:100,949,534...100,968,347
Ensembl chr 7:100,949,534...100,968,347
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MUC4
mucin 4, cell surface associated
disease_progression
IEP ISO
protein:increased expression:bile duct
RGD
PMID:14752841 PMID:19082442
RGD:2324944 , RGD:2303602
NCBI chr 3:195,746,771...195,811,929
Ensembl chr 3:195,746,765...195,811,973
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MUC5AC
mucin 5AC, oligomeric mucus/gel-forming
disease_progression
IEP
protein:increased expression:serum mRNA:increased expression:bile duct
RGD
PMID:14508831 PMID:11680592
RGD:2324990 , RGD:2324948
NCBI chr11:1,157,953...1,201,138
Ensembl chr11:1,157,953...1,201,138
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MUC5B
mucin 5B, oligomeric mucus/gel-forming
IEP
mRNA:decreased expression:bile duct
RGD
PMID:11680592
RGD:2324948
NCBI chr11:1,223,066...1,262,172
Ensembl chr11:1,223,066...1,262,172
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MUC6
mucin 6, oligomeric mucus/gel-forming (gene/pseudogene)
IEP
protein:increased expression: :
RGD
PMID:10209489
RGD:2325167
NCBI chr11:1,012,823...1,036,718
Ensembl chr11:1,012,823...1,036,718
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NAT2
N-acetyltransferase 2
IAGP
DNA:polymorphisms (human)
RGD
PMID:15901993
RGD:2317172
NCBI chr 8:18,386,301...18,401,218
Ensembl chr 8:18,391,282...18,401,218
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NCAM1
neural cell adhesion molecule 1
IEP
associated with hepatitis
RGD
PMID:12031086
RGD:2326079
NCBI chr11:112,961,420...113,278,436
Ensembl chr11:112,961,275...113,278,436
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NOS2
nitric oxide synthase 2
IEP EXP
protein:increased expression:bile duct CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:16818635 PMID:16094703
RGD:2325280
NCBI chr17:27,756,766...27,800,529
Ensembl chr17:27,756,766...27,800,529
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NOTCH1
notch receptor 1
IEP
protein:increased expression:cholangiocyte
RGD
PMID:15887117
RGD:2325330
NCBI chr 9:136,494,433...136,546,048
Ensembl chr 9:136,494,433...136,546,048
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NR1H4
nuclear receptor subfamily 1 group H member 4
disease_progression
ISO
mRNA:decreased expression:liver (rat)
RGD
PMID:24255171
RGD:15090822
NCBI chr12:100,473,866...100,564,414
Ensembl chr12:100,473,708...100,564,414
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OGG1
8-oxoguanine DNA glycosylase
disease_progression
IAGP
DNA:loss of heterozygosity (human)
RGD
PMID:11866974 PMID:11260864
RGD:2317134 , RGD:2317136
NCBI chr 3:9,749,952...9,783,108
Ensembl chr 3:9,749,944...9,788,219
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OSBP2
oxysterol binding protein 2
IEP
mRNA:increased expression:blood
RGD
PMID:21763455
RGD:41404644
NCBI chr22:30,693,782...30,907,813
Ensembl chr22:30,693,782...30,907,824
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OSBPL7
oxysterol binding protein like 7
IEP
mRNA:increased expression:blood
RGD
PMID:21763455
RGD:41404644
NCBI chr17:47,807,372...47,821,794
Ensembl chr17:47,807,372...47,821,803
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PACERR
PTGS2 antisense NFKB1 complex-mediated expression regulator RNA
IAGP
ClinVar Annotator: match by term: Cholangiocarcinoma
ClinVar
NCBI chr 1:186,680,654...186,681,446
Ensembl chr 1:186,680,108...186,683,165
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PANX2
pannexin 2
disease_progression
IEP
mRNA:altered expression:liver (human)
RGD
PMID:31687280
RGD:152998978
NCBI chr22:50,170,731...50,180,295
Ensembl chr22:50,170,731...50,180,295
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PAWR
pro-apoptotic WT1 regulator
IEP
mRNA,protein:decreased expression:cholangiocyte:
RGD
PMID:20724592
RGD:9835357
NCBI chr12:79,584,879...79,690,964
Ensembl chr12:79,574,979...79,690,964
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PBRM1
polybromo 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:24185509
NCBI chr 3:52,545,367...52,685,913
Ensembl chr 3:52,545,352...52,685,917
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PEG3
paternally expressed 3
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:22561520
NCBI chr19:56,810,082...56,840,726
Ensembl chr19:56,810,077...56,840,728
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PES1
pescadillo ribosomal biogenesis factor 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:34845814
NCBI chr22:30,576,625...30,607,013
Ensembl chr22:30,576,625...30,607,083
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PIR
pirin
disease_progression
IEP
mRNA:altered expression:liver (human)
RGD
PMID:31687280
RGD:152998978
NCBI chr X:15,384,799...15,493,333
Ensembl chr X:15,384,799...15,493,564
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PPIA
peptidylprolyl isomerase A
ameliorates
IMP
human cell line and construct in a mouse model
RGD
PMID:21871105
RGD:150429623
NCBI chr 7:44,796,681...44,803,117
Ensembl chr 7:44,796,680...44,824,564
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PPP3CA
protein phosphatase 3 catalytic subunit alpha
disease_progression
IEP
mRNA:altered expression:liver (human)
RGD
PMID:31687280
RGD:152998978
NCBI chr 4:101,023,418...101,347,526
Ensembl chr 4:101,023,409...101,348,278
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PREX2
phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 2
sexual_dimorphism
IAGP
DNA:substitutions, insertion/deletions: (human)
RGD
PMID:28000796
RGD:151665188
NCBI chr 8:67,952,046...68,237,032
Ensembl chr 8:67,952,046...68,237,032
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PRKACA
protein kinase cAMP-activated catalytic subunit alpha
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:26258846
NCBI chr19:14,091,688...14,117,762
Ensembl chr19:14,091,688...14,118,084
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PRKACB
protein kinase cAMP-activated catalytic subunit beta
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:26258846
NCBI chr 1:84,078,079...84,238,498
Ensembl chr 1:84,078,062...84,238,498
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PRRG4
proline rich and Gla domain 4
disease_progression
IEP
mRNA:altered expression:liver (human)
RGD
PMID:31687280
RGD:152998978
NCBI chr11:32,829,789...32,858,120
Ensembl chr11:32,829,927...32,858,120
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PRSS2
serine protease 2
IEP
protein:increased expression:serum
RGD
PMID:8621252
RGD:2324908
NCBI chr 7:142,770,970...142,774,560
Ensembl chr 7:142,760,398...142,774,564
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PRSS56
serine protease 56
disease_progression
IEP
mRNA:altered expression:liver (human)
RGD
PMID:31687280
RGD:152998978
NCBI chr 2:232,520,388...232,525,716
Ensembl chr 2:232,520,388...232,525,716
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PTEN
phosphatase and tensin homolog
ISO EXP
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:27022031 PMID:23376645
RGD:12802341
NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930
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PTGS2
prostaglandin-endoperoxide synthase 2
IEP IAGP EXP
protein:increased expression:bile duct ClinVar Annotator: match by term: Cholangiocarcinoma CTD Direct Evidence: marker/mechanism
ClinVar CTD RGD
PMID:16818635 PMID:19621664
RGD:2317180
NCBI chr 1:186,671,791...186,680,423
Ensembl chr 1:186,671,791...186,680,922
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RASSF8
Ras association domain family member 8
disease_progression
IEP
mRNA:altered expression:liver (human)
RGD
PMID:31687280
RGD:152998978
NCBI chr12:25,958,232...26,079,889
Ensembl chr12:25,958,232...26,079,892
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REG1A
regenerating family member 1 alpha
susceptibility
IEP
mRNA, protein:increased expression:liver (human)
RGD
PMID:11343228
RGD:10044031
NCBI chr 2:79,120,488...79,123,409
Ensembl chr 2:79,120,362...79,123,409
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RNF39
ring finger protein 39
disease_progression
IEP
mRNA:altered expression:liver (human)
RGD
PMID:31687280
RGD:152998978
NCBI chr 6:30,070,270...30,075,769
Ensembl chr 6:30,070,266...30,075,849
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RNF43
ring finger protein 43
exacerbates
EXP IAGP
CTD Direct Evidence: marker/mechanism associated with opisthorchiasis;DNA:SNPs:multiple: (human)
CTD RGD
PMID:22561520 PMID:22561520
RGD:151361227
NCBI chr17:58,352,500...58,417,534
Ensembl chr17:58,353,676...58,417,595
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ROBO2
roundabout guidance receptor 2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:22561520
NCBI chr 3:75,906,675...77,649,964
Ensembl chr 3:75,906,695...77,649,964
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RUNX3
RUNX family transcription factor 3
IEP
protein:decreased expression:bile duct
RGD
PMID:19827872
RGD:2324955
NCBI chr 1:24,899,511...24,965,138
Ensembl chr 1:24,899,511...24,965,121
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SLC4A4
solute carrier family 4 member 4
disease_progression
IEP
mRNA:altered expression:liver (human)
RGD
PMID:31687280
RGD:152998978
NCBI chr 4:71,062,660...71,572,083
Ensembl chr 4:71,062,667...71,572,087
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SLC5A5
solute carrier family 5 member 5
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:17408651
NCBI chr19:17,871,945...17,895,174
Ensembl chr19:17,871,945...17,895,174
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SLC7A5
solute carrier family 7 member 5
disease_progression treatment
IEP IMP
RGD
PMID:25475870 PMID:28347255 PMID:24131658
RGD:151361214 , RGD:151361294 , RGD:151361287
NCBI chr16:87,830,023...87,869,507
Ensembl chr16:87,830,016...87,869,507
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SMAD4
SMAD family member 4
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:22561520
NCBI chr18:51,030,213...51,085,042
Ensembl chr18:51,028,528...51,085,045
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SOCS3
suppressor of cytokine signaling 3
severity
IEP
protein:decreased expression:bile duct (human)
RGD
PMID:26485275
RGD:11250478
NCBI chr17:78,356,778...78,360,925
Ensembl chr17:78,356,778...78,360,077
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SOX17
SRY-box transcription factor 17
severity
ISO
RGD
PMID:20816680
RGD:4889598
NCBI chr 8:54,457,935...54,460,892
Ensembl chr 8:54,457,935...54,460,892
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SOX2
SRY-box transcription factor 2
disease_progression
IEP
mRNA:altered expression:liver (human)
RGD
PMID:31687280
RGD:152998978
NCBI chr 3:181,711,925...181,714,436
Ensembl chr 3:181,711,925...181,714,436
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TGFB1
transforming growth factor beta 1
disease_progression
IEP ISO
protein:increased expression:pancreas
RGD
PMID:16083599 PMID:12632524
RGD:2325020 , RGD:1299231
NCBI chr19:41,330,323...41,353,922
Ensembl chr19:41,301,587...41,353,922
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TGFBR2
transforming growth factor beta receptor 2
ISO
mRNA:increased expression:bile duct
RGD
PMID:12632524
RGD:1299231
NCBI chr 3:30,606,356...30,694,142
Ensembl chr 3:30,606,478...30,694,249
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THBS1
thrombospondin 1
disease_progression
IEP IDA
DNA:hypermethylation (human)
RGD
PMID:16465407 PMID:11927969 PMID:12213730
RGD:2325024 , RGD:2325027 , RGD:2325026
NCBI chr15:39,581,079...39,599,466
Ensembl chr15:39,581,079...39,599,466
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TNC
tenascin C
severity
ISO
RGD
PMID:20816680
RGD:4889598
NCBI chr 9:115,019,575...115,118,157
Ensembl chr 9:115,019,575...115,118,207
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TNFAIP3
TNF alpha induced protein 3
severity
IEP
protein:increased expression:bile duct (human)
RGD
PMID:26485275
RGD:11250478
NCBI chr 6:137,866,349...137,883,312
Ensembl chr 6:137,867,214...137,883,314
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TP53
tumor protein p53
ISO EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:16818635 PMID:22561520
NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,546
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TTR
transthyretin
IEP
protein:decreased expression:blood serum (human)
RGD
PMID:18275060
RGD:151660506
NCBI chr18:31,591,877...31,598,821
Ensembl chr18:31,557,009...31,598,833
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UGT1A9
UDP glucuronosyltransferase family 1 member A9
IEP
RGD
PMID:9230212
RGD:2325161
NCBI chr 2:233,671,898...233,773,300
Ensembl chr 2:233,671,898...233,773,300
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VEGFA
vascular endothelial growth factor A
IAGP
ClinVar Annotator: match by term: Cholangiocarcinoma
ClinVar
PMID:18550579
NCBI chr 6:43,770,211...43,786,487
Ensembl chr 6:43,770,184...43,786,487
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WDHD1
WD repeat and HMG-box DNA binding protein 1
ameliorates
IMP
RGD
PMID:30314946
RGD:156420141
NCBI chr14:54,938,949...55,027,099
Ensembl chr14:54,938,949...55,027,105
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WNT9A
Wnt family member 9A
disease_progression
IEP
mRNA:altered expression:liver (human)
RGD
PMID:31687280
RGD:152998978
NCBI chr 1:227,918,656...227,947,932
Ensembl chr 1:227,918,656...227,947,932
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BAP1
BRCA1 associated deubiquitinase 1
disease_progression
IAGP
RGD
PMID:25536104
RGD:150340631
NCBI chr 3:52,401,008...52,410,008
Ensembl chr 3:52,401,008...52,410,008
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PBRM1
polybromo 1
disease_progression
IAGP
RGD
PMID:25536104
RGD:150340631
NCBI chr 3:52,545,367...52,685,913
Ensembl chr 3:52,545,352...52,685,917
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RAC1
Rac family small GTPase 1
IEP
protein:increased expression:mucosa (human)
RGD
PMID:21537609
RGD:153350126
NCBI chr 7:6,374,527...6,403,967
Ensembl chr 7:6,374,527...6,403,967
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SLC7A5
solute carrier family 7 member 5
disease_progression
IEP
RGD
PMID:24890221
RGD:151361210
NCBI chr16:87,830,023...87,869,507
Ensembl chr16:87,830,016...87,869,507
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PKD1
polycystin 1, transient receptor potential channel interacting
IAGP
ClinVar Annotator: match by term: Extrahepatic bile duct cancer
ClinVar
PMID:25741868
NCBI chr16:2,088,708...2,135,898
Ensembl chr16:2,088,708...2,135,898
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POLD1
DNA polymerase delta 1, catalytic subunit
IAGP
ClinVar Annotator: match by term: Extrahepatic bile duct cancer
ClinVar
PMID:25741868 PMID:26467025 PMID:28492532
NCBI chr19:50,384,323...50,418,018
Ensembl chr19:50,384,204...50,418,018
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XPO1
exportin 1
disease_progression
IEP
protein:increased expression:extrahepatic bile duct (human)
RGD
PMID:27279267
RGD:151665800
NCBI chr 2:61,477,849...61,538,612
Ensembl chr 2:61,476,032...61,538,741
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APC
APC regulator of WNT signaling pathway
IAGP
ClinVar Annotator: match by term: Intrahepatic cholangiocarcinoma
ClinVar
PMID:24728327 PMID:25479140 PMID:25741868 PMID:26467025 PMID:26530882 PMID:28135048 PMID:28195569 PMID:28492532 PMID:32390703 More...
NCBI chr 5:112,707,498...112,846,239
Ensembl chr 5:112,707,518...112,846,239
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ARID1A
AT-rich interaction domain 1A
disease_progression exacerbates
IEP
mRNA,protein:decreased expression:intrahepatic bile duct (human)
RGD
PMID:30849962 PMID:27433094 PMID:31665232
RGD:14974231 , RGD:126775257 , RGD:126781775
NCBI chr 1:26,696,015...26,782,104
Ensembl chr 1:26,693,236...26,782,104
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BAP1
BRCA1 associated deubiquitinase 1
disease_progression
IEP
RGD
PMID:27864835
RGD:150340628
NCBI chr 3:52,401,008...52,410,008
Ensembl chr 3:52,401,008...52,410,008
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BECN1
beclin 1
disease_progression
IEP
RGD
PMID:30849962
RGD:14974231
NCBI chr17:42,810,132...42,824,282
Ensembl chr17:42,810,134...42,833,350
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BRAF
B-Raf proto-oncogene, serine/threonine kinase
severity
IAGP
DNA:missense mutation:cds:p.V600E (human)
RGD
PMID:24139215
RGD:14398746
NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929
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FAS
Fas cell surface death receptor
disease_progression
IEP
RGD
PMID:11003620
RGD:14700701
NCBI chr10:88,964,050...89,017,059
Ensembl chr10:88,953,813...89,029,605
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FASLG
Fas ligand
severity
IEP
RGD
PMID:11003620
RGD:14700701
NCBI chr 1:172,659,103...172,666,876
Ensembl chr 1:172,659,103...172,666,876
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FOXP3
forkhead box P3
ISO
DNA:hypomethylation:liver
RGD
PMID:24291052
RGD:38599002
NCBI chr X:49,250,438...49,264,710
Ensembl chr X:49,250,438...49,264,800
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HSP90AA1
heat shock protein 90 alpha family class A member 1
disease_progression
IEP
protein:increased expression:liver (human)
RGD
PMID:24796583
RGD:152177907
NCBI chr14:102,080,742...102,139,749
Ensembl chr14:102,080,742...102,139,699
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HSP90AB1
heat shock protein 90 alpha family class B member 1
disease_progression
IEP
protein:increased expression:liver (human)
RGD
PMID:24796583
RGD:152177907
NCBI chr 6:44,246,194...44,253,883
Ensembl chr 6:44,246,166...44,253,888
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IDH1
isocitrate dehydrogenase (NADP(+)) 1
no_association
IAGP
DNA:misssense mutations:cds:p.Arg132Cys,Arg132Leu (human)
RGD
PMID:26245674
RGD:14974229
NCBI chr 2:208,236,227...208,255,071
Ensembl chr 2:208,236,229...208,266,074
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IDH2
isocitrate dehydrogenase (NADP(+)) 2
disease_progression
IAGP ISO
DNA:mutations: : mRNA:decreased expression:liver (mouse)
RGD
PMID:22824796 PMID:32463951
RGD:14985256 , RGD:149735894
NCBI chr15:90,083,045...90,102,468
Ensembl chr15:90,083,045...90,102,477
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KDM5C
lysine demethylase 5C
exacerbates
HEP
protein:decreased expression:bile duct (human)
RGD
PMID:32714863
RGD:151361175
NCBI chr X:53,176,277...53,225,207
Ensembl chr X:53,176,277...53,225,422
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KRAS
KRAS proto-oncogene, GTPase
disease_progression
ISS IAGP
DNA:mutations::
MouseDO RGD
PMID:24139215
RGD:14398746
NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936
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LCN2
lipocalin 2
treatment
ISO IEP
Protein:increased expression:bile duct
RGD
PMID:24939880 PMID:24939880
RGD:126790491 , RGD:126790491
NCBI chr 9:128,149,453...128,153,453
Ensembl chr 9:128,149,071...128,153,453
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LRP1B
LDL receptor related protein 1B
exacerbates
IAGP
DNA:mutations:multiple: (human)
RGD
PMID:33014052
RGD:150429786
NCBI chr 2:140,231,423...142,131,016
Ensembl chr 2:140,231,423...142,131,016
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MAGI1
membrane associated guanylate kinase, WW and PDZ domain containing 1
disease_progression
HEP
protein:increased expression:intrahepatic bile duct (human)
RGD
PMID:30377796
RGD:152998946
NCBI chr 3:65,353,526...66,038,918
Ensembl chr 3:65,353,525...66,038,918
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MIR152
microRNA 152
IEP
miRNA:decreased expression:intrahepatic bile duct
RGD
PMID:28921383
RGD:19165148
NCBI chr17:48,037,161...48,037,247
Ensembl chr17:48,037,161...48,037,247
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MIR200B
microRNA 200b
IEP
RNA:increased expression:liver
RGD
PMID:27685844
RGD:14928335
NCBI chr 1:1,167,104...1,167,198
Ensembl chr 1:1,167,104...1,167,198
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MIR21
microRNA 21
IEP
RNA:increased expression:liver,plasma
RGD
PMID:27685844
RGD:14928335
NCBI chr17:59,841,266...59,841,337
Ensembl chr17:59,841,266...59,841,337
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MIR221
microRNA 221
severity
IEP
RGD
PMID:27685844
RGD:14928335
NCBI chr X:45,746,157...45,746,266
Ensembl chr X:45,746,157...45,746,266
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PBRM1
polybromo 1
disease_progression
IEP HEP
protein:increased expression:intrahepatic bile duct (human)
RGD
PMID:27864835 PMID:30377796
RGD:150340628 , RGD:152998946
NCBI chr 3:52,545,367...52,685,913
Ensembl chr 3:52,545,352...52,685,917
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PTEN
phosphatase and tensin homolog
disease_progression
IEP
protein:decreased expression:liver (human)
RGD
PMID:24796583
RGD:152177907
NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930
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RNF43
ring finger protein 43
exacerbates
IEP
mRNA, protein:decreased expression:liver, bile duct epithelium (human)
RGD
PMID:26980022
RGD:151361125
NCBI chr17:58,352,500...58,417,534
Ensembl chr17:58,353,676...58,417,595
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RUNX1
RUNX family transcription factor 1
IEP
mRNA:increased expression:intrahepatic bile duct
RGD
PMID:31015363
RGD:126775143
NCBI chr21:34,787,801...35,049,302
Ensembl chr21:34,787,801...36,004,667
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S100B
S100 calcium binding protein B
disease_progression
HEP
protein:increased expression:intrahepatic bile duct (human)
RGD
PMID:30377796
RGD:152998946
NCBI chr21:46,598,604...46,605,082
Ensembl chr21:46,598,604...46,605,208
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SMAD4
SMAD family member 4
disease_progression
IEP
mRNA,protein:decreased expression:intrahepatic bile duct
RGD
PMID:16917866 PMID:23981608
RGD:18936999 , RGD:21066336
NCBI chr18:51,030,213...51,085,042
Ensembl chr18:51,028,528...51,085,045
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TEP1
telomerase associated protein 1
IEP
mRNA:increased expression:hepatocyte,biliary epithelium.
RGD
PMID:10498642
RGD:152977753
NCBI chr14:20,365,667...20,413,501
Ensembl chr14:20,365,667...20,413,501
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TERC
telomerase RNA component
IEP
RNA:increased expression:hepatocyte,biliary epithelium.
RGD
PMID:10498642
RGD:152977753
NCBI chr 3:169,764,610...169,765,060
Ensembl chr 3:169,764,610...169,765,047 Ensembl chr 3:169,764,610...169,765,047
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APC
APC regulator of WNT signaling pathway
IAGP
ClinVar Annotator: match by term: Klatskin tumor
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 5:112,707,498...112,846,239
Ensembl chr 5:112,707,518...112,846,239
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ARID1A
AT-rich interaction domain 1A
disease_progression
IAGP
DNA:deletions
RGD
PMID:33387086
RGD:126848756
NCBI chr 1:26,696,015...26,782,104
Ensembl chr 1:26,693,236...26,782,104
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GATA6
GATA binding protein 6
sexual_dimorphism
IAGP
DNA:mutations
RGD
PMID:33387086
RGD:126848756
NCBI chr18:22,169,589...22,202,528
Ensembl chr18:22,169,589...22,202,528
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KMT2C
lysine methyltransferase 2C
onset
IAGP
DNA:mutations
RGD
PMID:33387086
RGD:126848756
NCBI chr 7:152,134,925...152,436,003
Ensembl chr 7:152,134,922...152,436,644
G
KRAS
KRAS proto-oncogene, GTPase
disease_progression
IAGP
DNA:mutations
RGD
PMID:33387086
RGD:126848756
NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936
G
PREX2
phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 2
sexual_dimorphism
IAGP
DNA:substitutions, insertion/deletions: (human)
RGD
PMID:33387086
RGD:126848756
NCBI chr 8:67,952,046...68,237,032
Ensembl chr 8:67,952,046...68,237,032
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all