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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.

Term:Bile Duct Neoplasms
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Accession:DOID:9002936 term browser browse the term
Definition:Tumors or cancer of the BILE DUCTS.
Synonyms:exact_synonym: bile duct neoplasm
 primary_id: MESH:D001650
For additional species annotation, visit the Alliance of Genome Resources.



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Bile Duct Neoplasms term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ASPH aspartate beta-hydroxylase IEP mRNA:increased expression:bile duct RGD PMID:16673309 RGD:2325824 NCBI chr 8:61,500,556...61,714,609
Ensembl chr 8:61,500,556...61,714,640
JBrowse link
G EGFR epidermal growth factor receptor EXP CTD Direct Evidence: therapeutic CTD PMID:17341899 NCBI chr 7:55,019,017...55,211,628
Ensembl chr 7:55,019,017...55,211,628
JBrowse link
G FSCN1 fascin actin-bundling protein 1 disease_progression IEP protein:increased expression:bile duct RGD PMID:17419223 RGD:2317786 NCBI chr 7:5,592,816...5,606,655
Ensembl chr 7:5,592,816...5,606,655
JBrowse link
G IL6 interleukin 6 disease_progression IEP protein:increased expression:serum RGD PMID:17617204 RGD:2317166 NCBI chr 7:22,725,889...22,732,002
Ensembl chr 7:22,725,884...22,732,002
JBrowse link
G MET MET proto-oncogene, receptor tyrosine kinase IEP protein:increased expression:intrahepatic bile duct (human) RGD PMID:15892172 RGD:2317585 NCBI chr 7:116,672,196...116,798,386
Ensembl chr 7:116,672,196...116,798,377
JBrowse link
G MGMT O-6-methylguanine-DNA methyltransferase severity IEP protein:decreased expression:carcinoma of extrahepatic bile duct (human) RGD PMID:11986189 RGD:2317662 NCBI chr10:129,467,241...129,770,983
Ensembl chr10:129,467,190...129,770,983
JBrowse link
G MKI67 marker of proliferation Ki-67 disease_progression IEP RGD PMID:9869516 RGD:2317706 NCBI chr10:128,096,659...128,126,423
Ensembl chr10:128,096,659...128,126,423
JBrowse link
G MUC16 mucin 16, cell surface associated IEP protein:increased expression:serum,bile RGD PMID:1657243 RGD:2325134 NCBI chr19:8,848,840...9,010,390
Ensembl chr19:8,848,844...8,981,342
JBrowse link
G MUC4 mucin 4, cell surface associated disease_progression IEP protein:increased expression:bile duct RGD PMID:16857800 RGD:2324929 NCBI chr 3:195,746,771...195,811,929
Ensembl chr 3:195,746,765...195,811,973
JBrowse link
G NCAM1 neural cell adhesion molecule 1 disease_progression IEP
IDA
RGD PMID:8501910 PMID:9851639 RGD:2326077, RGD:2326076 NCBI chr11:112,961,420...113,278,436
Ensembl chr11:112,961,247...113,278,436
JBrowse link
G RUNX3 RUNX family transcription factor 3 IDA DNA:hypermethylation:promoter RGD PMID:15471559 RGD:2324957 NCBI chr 1:24,899,511...24,965,158
Ensembl chr 1:24,899,511...24,965,121
JBrowse link
G ZNF667-AS1 ZNF667 antisense RNA 1 (head to head) EXP CTD Direct Evidence: marker/mechanism CTD PMID:29707199 NCBI chr19:56,477,874...56,495,437
Ensembl chr19:56,477,250...56,504,362
JBrowse link
bile duct adenoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BRAF B-Raf proto-oncogene, serine/threonine kinase IAGP DNA:missense mutation:cds:p.V600E (human) RGD PMID:25704541 RGD:11521169 NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929
JBrowse link
bile duct cancer term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APOB apolipoprotein B susceptibility IAGP DNA:polymorphisms:intron, exon:IVS6+360C>T, 56C>T (human) RGD PMID:18296645 RGD:2317550 NCBI chr 2:21,001,429...21,044,073
Ensembl chr 2:21,001,429...21,044,073
JBrowse link
G APOE apolipoprotein E susceptibility IAGP DNA:SNP:intron:rs440446 (human) RGD PMID:18296645 RGD:2317550 NCBI chr19:44,905,796...44,909,393
Ensembl chr19:44,905,791...44,909,393
JBrowse link
G ATM ATM serine/threonine kinase IAGP ClinVar Annotator: match by term: Bile duct cancer ClinVar PMID:9887333 PMID:17124347 PMID:20077034 PMID:25741868 PMID:26635394 More... NCBI chr11:108,222,484...108,369,102
Ensembl chr11:108,223,044...108,369,102
JBrowse link
G MLH1 mutL homolog 1 IAGP ClinVar Annotator: match by term: Bile duct cancer ClinVar PMID:15340264 PMID:17510385 PMID:18307539 PMID:19419416 PMID:22136435 More... NCBI chr 3:36,993,487...37,050,846
Ensembl chr 3:36,993,350...37,050,846
JBrowse link
G MSH2 mutS homolog 2 IAGP ClinVar Annotator: match by term: Bile duct cancer ClinVar NCBI chr 2:47,403,067...47,634,501
Ensembl chr 2:47,403,067...47,663,146
JBrowse link
G PALB2 partner and localizer of BRCA2 IAGP ClinVar Annotator: match by term: Bile duct cancer ClinVar PMID:25741868 PMID:28492532 PMID:30287823 NCBI chr16:23,603,162...23,641,337
Ensembl chr16:23,603,160...23,641,310
JBrowse link
G PKD1 polycystin 1, transient receptor potential channel interacting IAGP ClinVar Annotator: match by term: Bile duct cancer ClinVar PMID:12007219 PMID:16430766 PMID:17574468 PMID:25741868 PMID:26467025 More... NCBI chr16:2,088,708...2,135,898
Ensembl chr16:2,088,708...2,135,898
JBrowse link
G POLD1 DNA polymerase delta 1, catalytic subunit IAGP ClinVar Annotator: match by term: Bile duct cancer ClinVar PMID:26467025 PMID:28492532 NCBI chr19:50,384,291...50,418,018
Ensembl chr19:50,384,204...50,418,018
JBrowse link
G STK11 serine/threonine kinase 11 IAGP ClinVar Annotator: match by term: Bile duct cancer ClinVar PMID:25741868 PMID:28492532 NCBI chr19:1,205,778...1,228,431
Ensembl chr19:1,177,558...1,228,431
JBrowse link
G TJP1 tight junction protein 1 IEP protein:decreased expression:bile duct RGD PMID:19184677 RGD:2325030 NCBI chr15:29,699,367...29,969,049
Ensembl chr15:29,699,367...29,968,915
JBrowse link
bile duct carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MSLN mesothelin IEP protein:increased expression:bile duct RGD PMID:17276942 RGD:2326059 NCBI chr16:760,734...768,865
Ensembl chr16:760,734...768,865
JBrowse link
cholangiocarcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCC2 ATP binding cassette subfamily C member 2 susceptibility IAGP DNA:polymorphism:exon:c.3972C>T (human) RGD PMID:19451719 RGD:2317508 NCBI chr10:99,782,602...99,853,741
Ensembl chr10:99,782,640...99,852,594
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G ALOX5 arachidonate 5-lipoxygenase IEP protein:increased expression:bile duct RGD PMID:18507031 RGD:2317521 NCBI chr10:45,374,209...45,446,121
Ensembl chr10:45,374,176...45,446,119
JBrowse link
G ANXA2 annexin A2 disease_progression IEP RGD PMID:20493868 RGD:2325728 NCBI chr15:60,347,151...60,398,025
Ensembl chr15:60,347,134...60,402,883
JBrowse link
G ANXA8 annexin A8 IEP RGD PMID:19376120 RGD:2325733 NCBI chr10:47,467,993...47,991,879
Ensembl chr10:47,460,162...47,484,158
JBrowse link
G 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 5:112,707,498...112,846,239
JBrowse link
G APOA1 apolipoprotein A1 IEP protein:decreased expression:serum RGD PMID:19486127 RGD:2325756 NCBI chr11:116,835,751...116,837,950
Ensembl chr11:116,835,751...116,837,622
JBrowse link
G 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
JBrowse link
G ASPH aspartate beta-hydroxylase IDA RGD PMID:21898484 RGD:6902945 NCBI chr 8:61,500,556...61,714,609
Ensembl chr 8:61,500,556...61,714,640
JBrowse link
G BAP1 BRCA1 associated protein 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:24185509 PMID:25231345 NCBI chr 3:52,401,004...52,410,030
Ensembl chr 3:52,401,008...52,410,008
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G EGFR epidermal growth factor receptor EXP CTD Direct Evidence: therapeutic CTD PMID:17341899 NCBI chr 7:55,019,017...55,211,628
Ensembl chr 7:55,019,017...55,211,628
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G ERBB2 erb-b2 receptor tyrosine kinase 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16818635 NCBI chr17:39,688,094...39,728,660
Ensembl chr17:39,687,914...39,730,426
JBrowse link
G 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 7:148,807,374...148,884,344
Ensembl chr 7:148,807,257...148,884,321
JBrowse link
G 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
JBrowse link
G FGF2 fibroblast growth factor 2 IEP protein:increased expression:bile RGD PMID:11478488 RGD:2317765 NCBI chr 4:122,826,708...122,898,236
Ensembl chr 4:122,826,708...122,898,236
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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 chr20:58,839,681...58,911,192
Ensembl chr20:58,839,718...58,911,192
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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 7:81,699,006...81,770,438
Ensembl chr 7:81,699,010...81,770,438
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G IL4R interleukin 4 receptor IEP mRNA:increased expression:bile duct RGD PMID:18798553 RGD:2317263 NCBI chr16:27,313,668...27,364,778
Ensembl chr16:27,313,668...27,364,778
JBrowse link
G IL6 interleukin 6 IEP
EXP
protein:increased expression:serum
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:17621267 PMID:15011822 PMID:28925763 RGD:2317167, RGD:14975292 NCBI chr 7:22,725,889...22,732,002
Ensembl chr 7:22,725,884...22,732,002
JBrowse link
G KMT2C lysine methyltransferase 2C EXP CTD Direct Evidence: marker/mechanism CTD PMID:22561520 NCBI chr 7:152,134,925...152,436,642
Ensembl chr 7:152,134,922...152,436,644
JBrowse link
G 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
JBrowse link
G KRT7 keratin 7 IEP RGD PMID:18393293 RGD:2317308 NCBI chr12:52,233,243...52,252,667
Ensembl chr12:52,232,520...52,252,186
JBrowse link
G MDM2 MDM2 proto-oncogene disease_progression IEP protein:increased expression:intrahepatic bile duct (human) RGD PMID:15619210 RGD:2317417 NCBI chr12:68,808,149...68,850,686
Ensembl chr12:68,808,177...68,845,544
JBrowse link
G 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...116,798,386
Ensembl chr 7:116,672,196...116,798,377
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G MSLN mesothelin EXP CTD Direct Evidence: marker/mechanism CTD PMID:14576474 NCBI chr16:760,734...768,865
Ensembl chr16:760,734...768,865
JBrowse link
G MTHFR methylenetetrahydrofolate reductase susceptibility IAGP DNA:polymorphism (human) RGD PMID:17201138 RGD:2317119 NCBI chr 1:11,785,723...11,806,103
Ensembl chr 1:11,785,723...11,806,455
JBrowse link
G 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
JBrowse link
G MUC16 mucin 16, cell surface associated IEP associated with Opisthorchiasis;protein:increased expression:serum RGD PMID:1653472 RGD:2325142 NCBI chr19:8,848,840...9,010,390
Ensembl chr19:8,848,844...8,981,342
JBrowse link
G MUC2 mucin 2, oligomeric mucus/gel-forming IEP mRNA:decreased expression:bile duct RGD PMID:11680592 RGD:2324948 NCBI chr11:1,074,875...1,110,508
Ensembl chr11:1,074,875...1,110,511
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G MUC6 mucin 6, oligomeric mucus/gel-forming 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
JBrowse link
G NAT2 N-acetyltransferase 2 IAGP DNA:polymorphisms (human) RGD PMID:15901993 RGD:2317172 NCBI chr 8:18,386,585...18,401,219
Ensembl chr 8:18,391,282...18,401,218
JBrowse link
G NCAM1 neural cell adhesion molecule 1 IEP associated with hepatitis RGD PMID:12031086 RGD:2326079 NCBI chr11:112,961,420...113,278,436
Ensembl chr11:112,961,247...113,278,436
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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...9,788,246
Ensembl chr 3:9,749,944...9,788,219
JBrowse link
G 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
JBrowse link
G OSBPL7 oxysterol binding protein like 7 IEP mRNA:increased expression:blood RGD PMID:21763455 RGD:41404644 NCBI chr17:47,807,367...47,821,822
Ensembl chr17:47,807,372...47,821,834
JBrowse link
G PAWR pro-apoptotic WT1 regulator IEP mRNA,protein:decreased expression:cholangiocyte: RGD PMID:20724592 RGD:9835357 NCBI chr12:79,584,879...79,691,097
Ensembl chr12:79,574,979...79,690,964
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G PPIA peptidylprolyl isomerase A ameliorates IMP human cell line and construct in a mouse model RGD PMID:21871105 RGD:150429623 NCBI chr 7:44,795,960...44,803,117
Ensembl chr 7:44,796,680...44,824,564
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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 chr10:87,863,625...87,971,930
JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 IEP
EXP
protein:increased expression:bile duct
CTD Direct Evidence: marker/mechanism
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
JBrowse link
G 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
JBrowse link
G RNF43 ring finger protein 43 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22561520 NCBI chr17:58,352,500...58,418,894
Ensembl chr17:58,353,676...58,417,595
JBrowse link
G 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
JBrowse link
G RUNX3 RUNX family transcription factor 3 IEP protein:decreased expression:bile duct RGD PMID:19827872 RGD:2324955 NCBI chr 1:24,899,511...24,965,158
Ensembl chr 1:24,899,511...24,965,121
JBrowse link
G SLC5A5 solute carrier family 5 member 5 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17408651 NCBI chr19:17,871,394...17,895,175
Ensembl chr19:17,871,945...17,895,174
JBrowse link
G SMAD4 SMAD family member 4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22561520 NCBI chr18:51,030,213...51,085,042
Ensembl chr18:51,028,394...51,085,045
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G TGFBR2 transforming growth factor beta receptor 2 ISO mRNA:increased expression:bile duct RGD PMID:12632524 RGD:1299231 NCBI chr 3:30,606,472...30,694,142
Ensembl chr 3:30,606,601...30,694,142
JBrowse link
G 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
JBrowse link
G TNC tenascin C severity ISO RGD PMID:20816680 RGD:4889598 NCBI chr 9:115,019,575...115,118,244
Ensembl chr 9:115,019,575...115,118,257
JBrowse link
G 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...7,687,538
JBrowse link
G 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
JBrowse link
common bile duct neoplasm term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APOB apolipoprotein B IEP protein:increased expression:serum RGD PMID:18076041 RGD:2325763 NCBI chr 2:21,001,429...21,044,073
Ensembl chr 2:21,001,429...21,044,073
JBrowse link
G FSCN1 fascin actin-bundling protein 1 IEP mRNA, protein:increased expression: : RGD PMID:15136764 RGD:2317789 NCBI chr 7:5,592,816...5,606,655
Ensembl chr 7:5,592,816...5,606,655
JBrowse link
G MSLN mesothelin IEP protein:increased expression:common bile duct, ampulla of vater RGD PMID:16416732 RGD:2326064 NCBI chr16:760,734...768,865
Ensembl chr16:760,734...768,865
JBrowse link
G MTAP methylthioadenosine phosphorylase IEP DNA, protein:deletion, decreased expression:common bile duct: RGD PMID:15662124 RGD:2317954 NCBI chr 9:21,802,636...21,867,081
Ensembl chr 9:21,802,636...21,937,651
JBrowse link
G MUC1 mucin 1, cell surface associated disease_progression IEP protein:increased expression:bile duct RGD PMID:8766528 RGD:2324856 NCBI chr 1:155,185,824...155,192,915
Ensembl chr 1:155,185,824...155,192,916
JBrowse link
G MUC4 mucin 4, cell surface associated IEP protein:increased expression:pancreas RGD PMID:8143972 RGD:2324890 NCBI chr 3:195,746,771...195,811,929
Ensembl chr 3:195,746,765...195,811,973
JBrowse link
G MUC5AC mucin 5AC, oligomeric mucus/gel-forming IEP protein:altered expression:pancreas RGD PMID:8143972 RGD:2324890 NCBI chr11:1,157,953...1,201,138
Ensembl chr11:1,157,953...1,201,138
JBrowse link
G TYMP thymidine phosphorylase disease_progression IEP RGD PMID:10760693 RGD:2325158 NCBI chr22:50,525,752...50,530,085
Ensembl chr22:50,525,752...50,530,032
JBrowse link
extrahepatic bile duct adenocarcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BAP1 BRCA1 associated protein 1 disease_progression IAGP RGD PMID:25536104 RGD:150340631 NCBI chr 3:52,401,004...52,410,030
Ensembl chr 3:52,401,008...52,410,008
JBrowse link
G 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
JBrowse link
intrahepatic cholangiocarcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APC APC regulator of WNT signaling pathway IAGP ClinVar Annotator: match by term: Intrahepatic Cholangiocarcinoma ClinVar PMID:24728327 PMID:25479140 PMID:25741868 PMID:26530882 PMID:28492532 NCBI chr 5:112,707,498...112,846,239
Ensembl chr 5:112,707,498...112,846,239
JBrowse link
G 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
JBrowse link
G BAP1 BRCA1 associated protein 1 disease_progression IEP RGD PMID:27864835 RGD:150340628 NCBI chr 3:52,401,004...52,410,030
Ensembl chr 3:52,401,008...52,410,008
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G FAS Fas cell surface death receptor disease_progression IEP RGD PMID:11003620 RGD:14700701 NCBI chr10:88,968,429...89,017,059
Ensembl chr10:88,990,531...89,017,059
JBrowse link
G 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
JBrowse link
G FOXP3 forkhead box P3 ISO DNA:hypomethylation:liver RGD PMID:24291052 RGD:38599002 NCBI chr  X:49,250,436...49,264,932
Ensembl chr  X:49,250,438...49,270,477
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G LRP1B LDL receptor related protein 1B exacerbates IAGP DNA:mutations:multiple: (human) RGD PMID:33014052 RGD:150429786 NCBI chr 2:140,231,423...142,132,463
Ensembl chr 2:140,231,423...142,131,016
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G PBRM1 polybromo 1 IEP RGD PMID:27864835 RGD:150340628 NCBI chr 3:52,545,367...52,685,913
Ensembl chr 3:52,545,352...52,685,917
JBrowse link
G RUNX1 RUNX family transcription factor 1 IEP mRNA:increased expression:intrahepatic bile duct RGD PMID:31015363 RGD:126775143 NCBI chr21:34,787,801...35,049,334
Ensembl chr21:34,787,801...36,004,667
JBrowse link
G 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 chr18:51,028,394...51,085,045
JBrowse link
Klatskin's tumor term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 5:112,707,498...112,846,239
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G KMT2C lysine methyltransferase 2C onset IAGP DNA:mutations RGD PMID:33387086 RGD:126848756 NCBI chr 7:152,134,925...152,436,642
Ensembl chr 7:152,134,922...152,436,644
JBrowse link
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
JBrowse link
G PREX2 phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 2 sexual_dimorphism IAGP DNA:mutations RGD PMID:33387086 RGD:126848756 NCBI chr 8:67,951,918...68,237,032
Ensembl chr 8:67,952,046...68,237,032
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 20286
    disease of anatomical entity 18890
      gastrointestinal system disease 6205
        biliary tract disease 477
          biliary tract benign neoplasm 111
            Bile Duct Neoplasms 108
              bile duct adenoma + 1
              bile duct cancer + 105
              biliary papillomatosis + 0
              common bile duct neoplasm + 8
              extrahepatic bile duct leiomyoma 0
              extrahepatic bile duct lipoma 0
Path 2
Term Annotations click to browse term
  disease 20286
    disease of anatomical entity 18890
      gastrointestinal system disease 6205
        Gastrointestinal Diseases 4404
          Gastrointestinal Neoplasms 3510
            gastrointestinal system benign neoplasm 170
              hepatobiliary benign neoplasm 138
                biliary tract benign neoplasm 111
                  Bile Duct Neoplasms 108
                    bile duct adenoma + 1
                    bile duct cancer + 105
                    biliary papillomatosis + 0
                    common bile duct neoplasm + 8
                    extrahepatic bile duct leiomyoma 0
                    extrahepatic bile duct lipoma 0
paths to the root