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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:cholangiocarcinoma
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Accession:DOID:4947 term browser browse the term
Definition:A bile duct adenocarcinoma that has_material_basis_in bile duct epithelial cells. (DO)
Synonyms:exact_synonym: Cholangiocellular Carcinoma;   adult primary cholangiocarcinoma;   adult primary cholangiocellular carcinoma;   cholangiocarcinomas;   cholangiocellular carcinomas;   cholangiosarcoma
 primary_id: MESH:D018281
 xref: EFO:0005221;   ICD10CM:C22.1;   NCI:C38739;   NCI:C4436;   NCI:C60372;   NCI:C8265
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
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 ISO DNA:polymorphism:exon:c.3972C>T (human) RGD PMID:19451719 RGD:2317508 NCBI chr14:110,955,698...111,038,898
Ensembl chr14:110,955,633...111,037,537 		JBrowse link
G ADRB2 adrenoceptor beta 2 ISO protein:decreased expression:liver RGD PMID:16292515 RGD:2325640 NCBI chr 2:150,032,649...150,035,591
Ensembl chr 2:150,033,579...150,040,731 		JBrowse link
G ALB albumin disease_progression ISO RGD PMID:10776430 PMID:17545000 PMID:20431764 RGD:2325679 RGD:2325680 RGD:2325682 NCBI chr 8:69,643,427...69,663,152
Ensembl chr 8:69,531,487...69,721,696 		JBrowse link
G ALOX5 arachidonate 5-lipoxygenase ISO protein:increased expression:bile duct RGD PMID:18507031 RGD:2317521 NCBI chr14:90,859,209...90,907,084
Ensembl chr14:90,859,016...90,907,094 		JBrowse link
G ANXA2 annexin A2 disease_progression ISO RGD PMID:20493868 RGD:2325728 NCBI chr 1:111,588,721...111,635,064
Ensembl chr 1:111,588,306...111,635,059 		JBrowse link
G APC APC regulator of WNT signaling pathway ISO DNA:loss of heterozygosity
DNA:hypermethylation:promoter		 RGD PMID:10212000 PMID:15467712 RGD:2317198 RGD:2317205 NCBI chr 2:116,913,354...116,985,303
Ensembl chr 2:116,812,582...117,034,887 		JBrowse link
G APOA1 apolipoprotein A1 ISO protein:decreased expression:serum RGD PMID:19486127 RGD:2325756 NCBI chr 9:44,216,481...44,218,360
Ensembl chr 9:44,216,392...44,218,713 		JBrowse link
G ARID1A AT-rich interaction domain 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:24185509 NCBI chr 6:84,049,729...84,124,302
Ensembl chr 6:84,049,087...84,123,349 		JBrowse link
G ASPH aspartate beta-hydroxylase ISO RGD PMID:21898484 RGD:6902945 NCBI chr 4:71,902,891...72,107,047
Ensembl chr 4:71,903,318...72,107,044 		JBrowse link
G ATG101 autophagy related 101 disease_progression ISO RGD PMID:35592424 RGD:153350091 NCBI chr 5:17,418,085...17,425,770
Ensembl chr 5:17,418,121...17,425,624 		JBrowse link
G BAP1 BRCA1 associated protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24185509 PMID:25231345 NCBI chr13:34,544,570...34,553,538
Ensembl chr13:34,544,581...34,553,483 		JBrowse link
G BIRC6 baculoviral IAP repeat containing 6 ameliorates ISO mRNA:increased expression:bile duct (human) RGD PMID:31964418 RGD:153344516 NCBI chr 3:107,012,967...107,269,370
Ensembl chr 3:107,012,986...107,269,477 		JBrowse link
G BRAF B-Raf proto-oncogene, serine/threonine kinase ISO DNA:missense mutation:cds:p.V600E (human) RGD PMID:12692057 RGD:11073239 NCBI chr18:8,957,963...9,132,558
Ensembl chr18:8,957,991...9,132,553 		JBrowse link
G CDKN2A cyclin dependent kinase inhibitor 2A onset ISO protein:decreased expression:liver RGD PMID:15619210 RGD:2317417 NCBI chr 1:200,774,496...200,799,149
Ensembl chr 1:200,792,469...200,798,854 		JBrowse link
G CXCL8 C-X-C motif chemokine ligand 8 ISO ClinVar Annotator: match by term: Cholangiocarcinoma ClinVar PMID:18550579 NCBI chr 8:69,932,646...69,935,861
Ensembl chr 8:69,932,643...69,935,861 		JBrowse link
G CYCS cytochrome c, somatic ISO RGD PMID:19788692 RGD:2317615 NCBI chr18:47,169,921...47,172,212
Ensembl chr18:47,169,866...47,173,866 		JBrowse link
G CYP24A1 cytochrome P450 family 24 subfamily A member 1 ISO protein:increased expression:intrahepatic bile, extrahepatic bile duct (human) RGD PMID:23375797 RGD:151361187 NCBI chr17:55,110,546...55,130,328
Ensembl chr17:55,110,590...55,130,363 		JBrowse link
G EGF epidermal growth factor ISO ClinVar Annotator: match by term: Cholangiocarcinoma ClinVar PMID:18550579 PMID:28492532 NCBI chr 8:112,235,607...112,330,062
Ensembl chr 8:112,234,386...112,330,046 		JBrowse link
G EGFR epidermal growth factor receptor ISO ClinVar Annotator: match by term: Cholangiocarcinoma ClinVar PMID:18550579 PMID:24728327 PMID:25741868 PMID:28492532 NCBI chr 9:139,302,410...139,474,632
Ensembl chr 9:139,300,022...139,475,589 		JBrowse link
G EPO erythropoietin ISO mRNA, protein:increased expression:liver RGD PMID:23052842 RGD:10400912 NCBI chr 3:8,620,508...8,622,936
Ensembl chr 3:8,620,508...8,622,936 		JBrowse link
G EPOR erythropoietin receptor ISO mRNA, protein:increased expression:liver RGD PMID:23052842 RGD:10400912 NCBI chr 2:70,063,601...70,068,821
Ensembl chr 2:70,063,519...70,068,821 		JBrowse link
G ERBB2 erb-b2 receptor tyrosine kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16818635 NCBI chr12:22,591,621...22,621,384
Ensembl chr12:22,590,725...22,621,351 		JBrowse link
G EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit disease_progression
no_association		 ISO 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 RGD:126779604 NCBI chr 9:109,384,976...109,450,943
Ensembl chr 9:109,385,015...109,450,941 		JBrowse link
G FASLG Fas ligand ISO RGD PMID:11029528 RGD:2317746 NCBI chr 9:115,068,314...115,075,147
Ensembl chr 9:115,068,090...115,076,464 		JBrowse link
G FGF2 fibroblast growth factor 2 ISO protein:increased expression:bile RGD PMID:11478488 RGD:2317765 NCBI chr 8:101,278,877...101,344,084
Ensembl chr 8:101,278,885...101,343,916 		JBrowse link
G FGFR2 fibroblast growth factor receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26258846 NCBI chr14:131,183,095...131,285,001
Ensembl chr14:131,181,713...131,289,425 		JBrowse link
G FSCN1 fascin actin-bundling protein 1 disease_progression ISO protein:increased expression:bile ducts RGD PMID:19721413 RGD:2317780 NCBI chr 3:4,134,173...4,143,275
Ensembl chr 3:4,134,177...4,143,286 		JBrowse link
G GNAS GNAS complex locus disease_progression ISO DNA:polymorphism:393T>C (human)
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:17356712 PMID:22561520 RGD:1601377 NCBI chr17:58,985,580...59,053,022
Ensembl chr17:58,998,981...59,053,021 		JBrowse link
G HDAC6 histone deacetylase 6 ISO protein:increased expression:liver: RGD PMID:23370327 RGD:9681560 NCBI chr  X:42,917,911...42,941,894
Ensembl chr  X:42,917,964...42,941,887 		JBrowse link
G HGF hepatocyte growth factor ISO mRNA, protein:increased expression: :
protein:increased expression:serum		 RGD PMID:10827151 PMID:16974053 RGD:2317909 RGD:2317925 NCBI chr 9:98,437,771...98,513,573
Ensembl chr 9:98,438,143...98,513,564 		JBrowse link
G HIF1A hypoxia inducible factor 1 subunit alpha ISO ClinVar Annotator: match by term: Cholangiocarcinoma ClinVar PMID:12919954 PMID:18550579 PMID:22647679 PMID:24120591 PMID:25741868 NCBI chr 1:190,625,436...190,673,926
Ensembl chr 1:190,625,244...190,674,845 		JBrowse link
G IDH1 isocitrate dehydrogenase (NADP(+)) 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24185509 NCBI chr15:111,341,153...111,362,330
Ensembl chr15:111,341,153...111,362,296 		JBrowse link
G IDH2 isocitrate dehydrogenase (NADP(+)) 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24185509 NCBI chr 7:55,654,298...55,675,571
Ensembl chr 7:55,651,609...55,675,554 		JBrowse link
G IL10 interleukin 10 ISO ClinVar Annotator: match by term: Cholangiocarcinoma ClinVar PMID:11121048 PMID:14657422 PMID:14657427 PMID:18550579 PMID:28492532 NCBI chr 9:67,400,727...67,405,941
Ensembl chr 9:67,400,728...67,405,378 		JBrowse link
G IL19 interleukin 19 ISO ClinVar Annotator: match by term: Cholangiocarcinoma ClinVar PMID:11121048 PMID:14657422 PMID:14657427 PMID:18550579 PMID:28492532 NCBI chr 9:67,469,519...67,479,597
Ensembl chr 9:67,469,524...67,479,813 		JBrowse link
G IL1R2 interleukin 1 receptor type 2 disease_progression ISO mRNA:altered expression:liver (human) RGD PMID:31687280 RGD:152998978 NCBI chr 3:52,367,434...52,406,393
Ensembl chr 3:52,367,437...52,406,334 		JBrowse link
G IL4R interleukin 4 receptor ISO mRNA:increased expression:bile duct RGD PMID:18798553 RGD:2317263 NCBI chr 3:19,526,343...19,576,792
Ensembl chr 3:19,523,564...19,576,544 		JBrowse link
G IL6 interleukin 6 ISO ClinVar Annotator: match by term: Cholangiocarcinoma ClinVar PMID:9769329 PMID:10720087 PMID:11001912 PMID:11889177 PMID:12519862 More... NCBI chr 9:91,506,421...91,510,830
Ensembl chr 9:91,506,421...91,511,263 		JBrowse link
G INS insulin disease_progression ISO mRNA:altered expression:liver (human) RGD PMID:31687280 RGD:152998978 NCBI chr 2:1,496,842...1,498,052
Ensembl chr 2:1,496,842...1,497,841 		JBrowse link
G KCND2 potassium voltage-gated channel subfamily D member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:34418280 NCBI chr18:26,139,457...26,624,210
Ensembl chr18:26,139,457...26,623,233 		JBrowse link
G KIT KIT proto-oncogene, receptor tyrosine kinase disease_progression ISO mRNA:altered expression:liver (human) RGD PMID:31687280 RGD:152998978 NCBI chr 8:41,402,334...41,492,306
Ensembl chr 8:41,402,043...41,493,734 		JBrowse link
G KMT2C lysine methyltransferase 2C ISO CTD Direct Evidence: marker/mechanism CTD PMID:22561520 NCBI chr18:4,993,213...5,279,668
Ensembl chr18:4,993,227...5,278,723 		JBrowse link
G KRAS KRAS proto-oncogene, GTPase ISO CTD Direct Evidence: marker/mechanism CTD PMID:8968066 PMID:22561520 NCBI chr 5:48,508,774...48,546,260
Ensembl chr 5:48,508,811...48,549,358 		JBrowse link
G KRT7 keratin 7 ISO RGD PMID:18393293 RGD:2317308 NCBI chr 5:17,553,192...17,570,582
Ensembl chr 5:17,555,728...17,570,581 		JBrowse link
G LOC100524016 mesothelin ISO CTD Direct Evidence: marker/mechanism CTD PMID:14576474 NCBI chr 3:41,025,892...41,029,302 JBrowse link
G LOC100739508 glutathione S-transferase P-like treatment ISO human cell line in a mouse model
DNA:hypermethylation:promoter		 RGD PMID:12805482 PMID:15467712 RGD:14401711 RGD:2317198 NCBI chr 2:5,005,498...5,009,247 JBrowse link
G LOC110258578 interleukin-1 beta-like ISO ClinVar Annotator: match by term: Cholangiocarcinoma ClinVar PMID:18550579 PMID:25741868
G MDM2 MDM2 proto-oncogene disease_progression ISO protein:increased expression:intrahepatic bile duct (human) RGD PMID:15619210 RGD:2317417 NCBI chr 5:33,105,717...33,137,602
Ensembl chr 5:33,105,759...33,137,739 		JBrowse link
G MET MET proto-oncogene, receptor tyrosine kinase disease_progression ISO protein:increased phosphorylation:liver, carcinoma (human)
protein:increased expression:liver, biliary epithelium (rat)		 RGD PMID:14656942 PMID:16818635 RGD:2317578 RGD:2317601 NCBI chr18:29,426,044...29,541,526
Ensembl chr18:29,426,048...29,541,512 		JBrowse link
G MFSD4A major facilitator superfamily domain containing 4A disease_progression ISO mRNA:altered expression:liver (human) RGD PMID:31687280 RGD:152998978 NCBI chr 9:66,249,434...66,292,482
Ensembl chr 9:66,249,678...66,288,338 		JBrowse link
G MGMT O-6-methylguanine-DNA methyltransferase ISO DNA:hypermethylation:promoter (human) RGD PMID:17550320 RGD:2317632 NCBI chr14:138,502,005...138,771,543
Ensembl chr14:138,499,309...138,771,540 		JBrowse link
G MIR155 microRNA mir-155 ISO miRNA:increased expression:serum RGD PMID:30653586 RGD:21081530 NCBI chr13:189,138,822...189,138,902
Ensembl chr13:189,138,822...189,138,902 		JBrowse link
G MIR192 microRNA mir-192 ISO RNA:increased expression:urine RGD PMID:26456596 RGD:41404678 NCBI chr 2:7,285,667...7,285,746
Ensembl chr 2:7,285,667...7,285,746 		JBrowse link
G MIR21 microRNA mir-21 ISO RNA:increased expression:urine RGD PMID:26456596 RGD:41404678 NCBI chr12:36,065,267...36,065,358
Ensembl chr12:36,065,267...36,065,358 		JBrowse link
G MIR23B microRNA mir-23b ISO CTD Direct Evidence: marker/mechanism CTD PMID:34418280 NCBI chr10:27,080,197...27,080,276
Ensembl chr10:27,080,197...27,080,276 		JBrowse link
G MKI67 marker of proliferation Ki-67 disease_progression ISO RGD PMID:12903495 RGD:2317705 NCBI chr14:137,266,622...137,296,312 JBrowse link
G MMP2 matrix metallopeptidase 2 disease_progression ISO protein:increased expression:bile duct RGD PMID:15213623 PMID:19629755 RGD:2324667 RGD:2325769 NCBI chr 6:30,059,247...30,087,031
Ensembl chr 6:30,058,595...30,086,982 		JBrowse link
G MMP9 matrix metallopeptidase 9 ISO protein:increased expression:bile duct
mRNA:increased expression:bile duct		 RGD PMID:15213623 PMID:16463672 RGD:2324667 RGD:2325856 NCBI chr17:48,179,690...48,186,782
Ensembl chr17:48,179,671...48,186,788 		JBrowse link
G MTHFR methylenetetrahydrofolate reductase susceptibility ISO DNA:polymorphism (human) RGD PMID:17201138 RGD:2317119 NCBI chr 6:71,863,637...71,882,118
Ensembl chr 6:71,863,637...71,881,820 		JBrowse link
G MUC1 mucin 1, cell surface associated disease_progression ISO protein:increased expression:serum
mRNA:increased expression:bile duct
protein:increased secretion:bile
protein:increased expression:bile duct:		 RGD PMID:15213623 PMID:18081149 PMID:19055478 PMID:19260467 PMID:19639217 RGD:2317986 RGD:2324622 RGD:2324638 RGD:2324664 RGD:2324667 NCBI chr 4:94,626,317...94,631,194 JBrowse link
G MUC2 mucin 2, oligomeric mucus/gel-forming ISO mRNA:decreased expression:bile duct RGD PMID:11680592 RGD:2324948 NCBI chr 2:689,363...719,542
Ensembl chr 2:689,364...710,330 		JBrowse link
G MUC4 mucin 4, cell surface associated disease_progression ISO protein:increased expression:bile duct RGD PMID:14752841 PMID:19082442 RGD:2303602 RGD:2324944 NCBI chr13:134,192,412...134,248,435 JBrowse link
G MUC5AC mucin 5AC, oligomeric mucus/gel-forming disease_progression ISO protein:increased expression:serum
mRNA:increased expression:bile duct		 RGD PMID:11680592 PMID:14508831 RGD:2324948 RGD:2324990 NCBI chr 2:757,897...790,321 JBrowse link
G MUC5B mucin 5B, oligomeric mucus/gel-forming ISO mRNA:decreased expression:bile duct RGD PMID:11680592 RGD:2324948 NCBI chr 2:807,685...842,096 JBrowse link
G MUC6 mucin 6, oligomeric mucus/gel-forming ISO protein:increased expression: : RGD PMID:10209489 RGD:2325167 NCBI chr 2:630,075...657,967
Ensembl chr 2:629,796...655,380 		JBrowse link
G NCAM1 neural cell adhesion molecule 1 ISO associated with hepatitis RGD PMID:12031086 RGD:2326079 NCBI chr 9:40,628,602...40,960,605
Ensembl chr 9:40,628,631...40,960,591 		JBrowse link
G NOS2 nitric oxide synthase 2 ISO CTD Direct Evidence: marker/mechanism
protein:increased expression:bile duct		 CTD
RGD		 PMID:16094703 PMID:16818635 RGD:2325280 NCBI chr12:44,174,944...44,219,875
Ensembl chr12:44,174,948...44,218,146 		JBrowse link
G NOTCH1 notch receptor 1 ISO protein:increased expression:cholangiocyte RGD PMID:15887117 RGD:2325330
G NR1H4 nuclear receptor subfamily 1 group H member 4 disease_progression ISO mRNA:decreased expression:liver (rat) RGD PMID:24255171 RGD:15090822 NCBI chr 5:83,607,222...83,732,668
Ensembl chr 5:83,604,294...83,684,604 		JBrowse link
G OGG1 8-oxoguanine DNA glycosylase disease_progression ISO DNA:loss of heterozygosity (human) RGD PMID:11260864 PMID:11866974 RGD:2317134 RGD:2317136 NCBI chr13:66,038,669...66,045,478 JBrowse link
G OSBP2 oxysterol binding protein 2 ISO mRNA:increased expression:blood RGD PMID:21763455 RGD:41404644 NCBI chr14:47,558,088...47,737,994
Ensembl chr14:47,551,516...47,737,997 		JBrowse link
G OSBPL7 oxysterol binding protein like 7 ISO mRNA:increased expression:blood RGD PMID:21763455 RGD:41404644 NCBI chr12:24,059,128...24,075,102
Ensembl chr12:24,059,124...24,076,109 		JBrowse link
G PANX2 pannexin 2 disease_progression ISO mRNA:altered expression:liver (human) RGD PMID:31687280 RGD:152998978 NCBI chr 5:497,380...506,126
Ensembl chr 5:497,385...506,013 		JBrowse link
G PAWR pro-apoptotic WT1 regulator ISO mRNA,protein:decreased expression:cholangiocyte: RGD PMID:20724592 RGD:9835357 NCBI chr 5:101,693,145...101,797,842
Ensembl chr 5:101,693,246...101,797,838 		JBrowse link
G PBRM1 polybromo 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24185509 NCBI chr13:34,689,718...34,821,117
Ensembl chr13:34,689,726...34,820,952 		JBrowse link
G PEG3 paternally expressed 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22561520 NCBI chr 6:61,281,931...61,307,788
Ensembl chr 6:61,285,456...61,292,885 		JBrowse link
G PES1 pescadillo ribosomal biogenesis factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:34845814 NCBI chr14:47,478,378...47,495,983
Ensembl chr14:47,476,801...47,495,982 		JBrowse link
G PIR pirin disease_progression ISO mRNA:altered expression:liver (human) RGD PMID:31687280 RGD:152998978 NCBI chr  X:11,934,157...12,034,629
Ensembl chr  X:11,934,163...12,033,746 		JBrowse link
G POLR1C RNA polymerase I and III subunit C ISO ClinVar Annotator: match by term: Cholangiocarcinoma ClinVar PMID:18550579 NCBI chr 7:38,511,521...38,531,938
Ensembl chr 7:38,507,073...38,537,943 		JBrowse link
G PPIA peptidylprolyl isomerase A ameliorates ISO human cell line and construct in a mouse model RGD PMID:21871105 RGD:150429623 NCBI chr18:50,563,130...50,566,857 JBrowse link
G PPP3CA protein phosphatase 3 catalytic subunit alpha disease_progression ISO mRNA:altered expression:liver (human) RGD PMID:31687280 RGD:152998978 NCBI chr 8:119,429,181...119,754,615
Ensembl chr 8:119,428,779...119,753,105 		JBrowse link
G PREX2 phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 2 sexual_dimorphism ISO DNA:substitutions, insertion/deletions: (human) RGD PMID:28000796 RGD:151665188 NCBI chr 4:66,712,412...66,996,258
Ensembl chr 4:66,715,237...66,996,044 		JBrowse link
G PRKACA protein kinase cAMP-activated catalytic subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:26258846 NCBI chr 2:65,074,876...65,095,564
Ensembl chr 2:65,074,870...65,095,551 		JBrowse link
G PRKACB protein kinase cAMP-activated catalytic subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:26258846 NCBI chr 6:129,520,397...129,636,207
Ensembl chr 6:129,520,376...129,635,733 		JBrowse link
G PRRG4 proline rich and Gla domain 4 disease_progression ISO mRNA:altered expression:liver (human) RGD PMID:31687280 RGD:152998978 NCBI chr 2:28,061,598...28,081,376
Ensembl chr 2:28,062,626...28,081,249 		JBrowse link
G PRSS2 serine protease 2 ISO protein:increased expression:serum RGD PMID:8621252 RGD:2324908 NCBI chr18:7,443,327...7,446,625
Ensembl chr18:7,443,327...7,446,625 		JBrowse link
G PRSS56 serine protease 56 disease_progression ISO mRNA:altered expression:liver (human) RGD PMID:31687280 RGD:152998978 NCBI chr15:133,033,848...133,039,583
Ensembl chr15:133,034,255...133,039,367 		JBrowse link
G PTEN phosphatase and tensin homolog ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:23376645 PMID:27022031 RGD:12802341 NCBI chr14:99,929,590...100,021,619 JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 ISO ClinVar Annotator: match by term: Cholangiocarcinoma ClinVar NCBI chr 9:127,850,164...127,858,866
Ensembl chr 9:127,850,015...127,858,884 		JBrowse link
G RASSF8 Ras association domain family member 8 disease_progression ISO mRNA:altered expression:liver (human) RGD PMID:31687280 RGD:152998978 NCBI chr 5:47,729,747...47,847,470
Ensembl chr 5:47,729,751...47,847,452 		JBrowse link
G RNF39 ring finger protein 39 disease_progression ISO mRNA:altered expression:liver (human) RGD PMID:31687280 RGD:152998978 NCBI chr 7:22,637,732...22,642,427
Ensembl chr 7:22,637,732...22,642,612 		JBrowse link
G RNF43 ring finger protein 43 exacerbates ISO CTD Direct Evidence: marker/mechanism
associated with opisthorchiasis;DNA:SNPs:multiple: (human)		 CTD
RGD		 PMID:22561520 RGD:151361227 NCBI chr12:34,631,574...34,695,021
Ensembl chr12:34,635,228...34,694,378 		JBrowse link
G ROBO2 roundabout guidance receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22561520 NCBI chr13:177,365,712...179,040,027
Ensembl chr13:177,365,772...179,013,542 		JBrowse link
G RUNX3 RUNX family transcription factor 3 ISO protein:decreased expression:bile duct RGD PMID:19827872 RGD:2324955 NCBI chr 6:82,531,203...82,595,044
Ensembl chr 6:82,531,559...82,595,026 		JBrowse link
G SLC4A4 solute carrier family 4 member 4 disease_progression ISO mRNA:altered expression:liver (human) RGD PMID:31687280 RGD:152998978 NCBI chr 8:67,768,955...68,177,213
Ensembl chr 8:67,706,874...68,177,212 		JBrowse link
G SLC5A5 solute carrier family 5 member 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17408651 NCBI chr 2:59,869,157...59,885,086
Ensembl chr 2:59,869,155...59,885,266 		JBrowse link
G SLC7A5 solute carrier family 7 member 5 disease_progression
treatment		 ISO RGD PMID:24131658 PMID:25475870 PMID:28347255 RGD:151361214 RGD:151361287 RGD:151361294 NCBI chr 6:1,545,940...1,574,298
Ensembl chr 6:1,545,944...1,574,285 		JBrowse link
G SMAD4 SMAD family member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22561520 NCBI chr 1:100,521,843...100,633,501
Ensembl chr 1:100,589,850...100,628,029 		JBrowse link
G SOCS3 suppressor of cytokine signaling 3 severity ISO protein:decreased expression:bile duct (human) RGD PMID:26485275 RGD:11250478 NCBI chr12:3,643,832...3,647,015
Ensembl chr12:3,643,929...3,647,009 		JBrowse link
G SOX17 SRY-box transcription factor 17 severity ISO RGD PMID:20816680 RGD:4889598 NCBI chr 4:76,854,218...76,857,143
Ensembl chr 4:76,854,150...76,857,148 		JBrowse link
G SOX2 SRY-box transcription factor 2 disease_progression ISO mRNA:altered expression:liver (human) RGD PMID:31687280 RGD:152998978 NCBI chr13:119,668,476...119,669,435
Ensembl chr13:119,668,476...119,669,435 		JBrowse link
G TGFB1 transforming growth factor beta 1 disease_progression ISO protein:increased expression:pancreas RGD PMID:12632524 PMID:16083599 RGD:1299231 RGD:2325020 NCBI chr 6:49,332,169...49,348,642
Ensembl chr 6:49,332,173...49,349,046 		JBrowse link
G TGFBR2 transforming growth factor beta receptor 2 ISO mRNA:increased expression:bile duct RGD PMID:12632524 RGD:1299231 NCBI chr13:16,784,370...16,875,828
Ensembl chr13:16,784,490...16,878,160 		JBrowse link
G THBS1 thrombospondin 1 disease_progression ISO DNA:hypermethylation (human) RGD PMID:11927969 PMID:12213730 PMID:16465407 RGD:2325024 RGD:2325026 RGD:2325027 NCBI chr 1:131,728,781...131,746,098
Ensembl chr 1:131,728,784...131,746,115 		JBrowse link
G TNC tenascin C severity ISO RGD PMID:20816680 RGD:4889598 NCBI chr 1:255,533,235...255,630,381
Ensembl chr 1:255,533,238...255,630,376 		JBrowse link
G TNFAIP3 TNF alpha induced protein 3 severity ISO protein:increased expression:bile duct (human) RGD PMID:26485275 RGD:11250478 NCBI chr 1:26,474,158...26,489,771
Ensembl chr 1:26,473,938...26,489,822 		JBrowse link
G TP53 tumor protein p53 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16818635 PMID:22561520 NCBI chr12:52,939,643...52,953,786
Ensembl chr12:52,939,644...52,953,818 		JBrowse link
G TTR transthyretin ISO protein:decreased expression:blood serum (human) RGD PMID:18275060 RGD:151660506 NCBI chr 6:115,496,338...115,503,974
Ensembl chr 6:115,496,326...115,503,977 		JBrowse link
G VEGFA vascular endothelial growth factor A ISO ClinVar Annotator: match by term: Cholangiocarcinoma ClinVar PMID:18550579 NCBI chr 7:38,746,393...38,762,282
Ensembl chr 7:38,746,052...38,761,366 		JBrowse link
G WDHD1 WD repeat and HMG-box DNA binding protein 1 ameliorates ISO RGD PMID:30314946 RGD:156420141 NCBI chr 1:184,300,291...184,378,974
Ensembl chr 1:184,300,293...184,378,959 		JBrowse link
G WNT9A Wnt family member 9A disease_progression ISO mRNA:altered expression:liver (human) RGD PMID:31687280 RGD:152998978 NCBI chr 2:51,102,757...51,128,346
Ensembl chr 2:51,102,763...51,128,346 		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 ISO RGD PMID:25536104 RGD:150340631 NCBI chr13:34,544,570...34,553,538
Ensembl chr13:34,544,581...34,553,483 		JBrowse link
G PBRM1 polybromo 1 disease_progression ISO RGD PMID:25536104 RGD:150340631 NCBI chr13:34,689,718...34,821,117
Ensembl chr13:34,689,726...34,820,952 		JBrowse link
G RAC1 Rac family small GTPase 1 ISO protein:increased expression:mucosa (human) RGD PMID:21537609 RGD:153350126 NCBI chr 3:4,781,776...4,803,510
Ensembl chr 3:4,781,780...4,803,543 		JBrowse link
G SLC7A5 solute carrier family 7 member 5 disease_progression ISO RGD PMID:24890221 RGD:151361210 NCBI chr 6:1,545,940...1,574,298
Ensembl chr 6:1,545,944...1,574,285 		JBrowse link
extrahepatic bile duct carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G POLD1 DNA polymerase delta 1, catalytic subunit ISO ClinVar Annotator: match by term: Extrahepatic bile duct cancer ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 6:55,247,799...55,272,087
Ensembl chr 6:55,247,880...55,272,085 		JBrowse link
G XPO1 exportin 1 disease_progression ISO protein:increased expression:extrahepatic bile duct (human) RGD PMID:27279267 RGD:151665800 NCBI chr 3:80,255,016...80,300,260
Ensembl chr 3:80,255,146...80,300,327 		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 ISO ClinVar Annotator: match by term: Intrahepatic cholangiocarcinoma ClinVar PMID:24728327 PMID:25479140 PMID:25741868 PMID:26467025 PMID:26530882 More... NCBI chr 2:116,913,354...116,985,303
Ensembl chr 2:116,812,582...117,034,887 		JBrowse link
G ARID1A AT-rich interaction domain 1A disease_progression
exacerbates		 ISO mRNA,protein:decreased expression:intrahepatic bile duct (human) RGD PMID:27433094 PMID:30849962 PMID:31665232 RGD:126775257 RGD:126781775 RGD:14974231 NCBI chr 6:84,049,729...84,124,302
Ensembl chr 6:84,049,087...84,123,349 		JBrowse link
G BAP1 BRCA1 associated protein 1 disease_progression ISO RGD PMID:27864835 RGD:150340628 NCBI chr13:34,544,570...34,553,538
Ensembl chr13:34,544,581...34,553,483 		JBrowse link
G BECN1 beclin 1 disease_progression ISO RGD PMID:30849962 RGD:14974231 NCBI chr12:20,041,914...20,054,249
Ensembl chr12:20,041,956...20,054,373 		JBrowse link
G BRAF B-Raf proto-oncogene, serine/threonine kinase severity ISO DNA:missense mutation:cds:p.V600E (human) RGD PMID:24139215 RGD:14398746 NCBI chr18:8,957,963...9,132,558
Ensembl chr18:8,957,991...9,132,553 		JBrowse link
G FAS Fas cell surface death receptor disease_progression ISO RGD PMID:11003620 RGD:14700701 NCBI chr14:100,927,305...100,954,781
Ensembl chr14:100,927,089...100,956,716 		JBrowse link
G FASLG Fas ligand severity ISO RGD PMID:11003620 RGD:14700701 NCBI chr 9:115,068,314...115,075,147
Ensembl chr 9:115,068,090...115,076,464 		JBrowse link
G FOXP3 forkhead box P3 ISO DNA:hypomethylation:liver RGD PMID:24291052 RGD:38599002 NCBI chr  X:43,303,777...43,328,164
Ensembl chr  X:43,303,785...43,322,968 		JBrowse link
G HSP90AA1 heat shock protein 90 alpha family class A member 1 disease_progression ISO protein:increased expression:liver (human) RGD PMID:24796583 RGD:152177907
G HSP90AB1 heat shock protein 90 alpha family class B member 1 disease_progression ISO protein:increased expression:liver (human) RGD PMID:24796583 RGD:152177907 NCBI chr 7:39,237,299...39,250,479
Ensembl chr 7:39,244,458...39,250,481 		JBrowse link
G IDH1 isocitrate dehydrogenase (NADP(+)) 1 no_association ISO DNA:misssense mutations:cds:p.Arg132Cys,Arg132Leu (human) RGD PMID:26245674 RGD:14974229 NCBI chr15:111,341,153...111,362,330
Ensembl chr15:111,341,153...111,362,296 		JBrowse link
G IDH2 isocitrate dehydrogenase (NADP(+)) 2 disease_progression ISO DNA:mutations: :
mRNA:decreased expression:liver (mouse)		 RGD PMID:22824796 PMID:32463951 RGD:149735894 RGD:14985256 NCBI chr 7:55,654,298...55,675,571
Ensembl chr 7:55,651,609...55,675,554 		JBrowse link
G KDM5C lysine demethylase 5C exacerbates ISO protein:decreased expression:bile duct (human) RGD PMID:32714863 RGD:151361175 NCBI chr  X:45,968,812...46,003,215
Ensembl chr  X:45,968,814...46,003,215 		JBrowse link
G KRAS KRAS proto-oncogene, GTPase disease_progression ISO DNA:mutations:: RGD
MouseDO		 PMID:24139215 RGD:14398746 NCBI chr 5:48,508,774...48,546,260
Ensembl chr 5:48,508,811...48,549,358 		JBrowse link
G LCN2 lipocalin 2 treatment ISO Protein:increased expression:bile duct RGD PMID:24939880 RGD:126790491 NCBI chr 1:268,609,975...268,614,651
Ensembl chr 1:268,609,887...268,614,644 		JBrowse link
G LRP1B LDL receptor related protein 1B exacerbates ISO DNA:mutations:multiple: (human) RGD PMID:33014052 RGD:150429786 NCBI chr15:9,612,805...11,499,969
Ensembl chr15:9,613,238...11,499,530 		JBrowse link
G MAGI1 membrane associated guanylate kinase, WW and PDZ domain containing 1 disease_progression ISO protein:increased expression:intrahepatic bile duct (human) RGD PMID:30377796 RGD:152998946 NCBI chr13:46,896,515...47,568,140
Ensembl chr13:46,897,903...47,567,717 		JBrowse link
G MIR152 microRNA mir-152 ISO miRNA:decreased expression:intrahepatic bile duct RGD PMID:28921383 RGD:19165148 NCBI chr12:24,292,249...24,292,328
Ensembl chr12:24,292,251...24,292,336 		JBrowse link
G MIR21 microRNA mir-21 ISO RNA:increased expression:liver,plasma RGD PMID:27685844 RGD:14928335 NCBI chr12:36,065,267...36,065,358
Ensembl chr12:36,065,267...36,065,358 		JBrowse link
G MIR221 microRNA mir-221 severity ISO RGD PMID:27685844 RGD:14928335 NCBI chr  X:40,571,068...40,571,137
Ensembl chr  X:40,571,068...40,571,137 		JBrowse link
G PBRM1 polybromo 1 disease_progression ISO protein:increased expression:intrahepatic bile duct (human) RGD PMID:27864835 PMID:30377796 RGD:150340628 RGD:152998946 NCBI chr13:34,689,718...34,821,117
Ensembl chr13:34,689,726...34,820,952 		JBrowse link
G PTEN phosphatase and tensin homolog disease_progression ISO protein:decreased expression:liver (human) RGD PMID:24796583 RGD:152177907 NCBI chr14:99,929,590...100,021,619 JBrowse link
G RNF43 ring finger protein 43 exacerbates ISO mRNA, protein:decreased expression:liver, bile duct epithelium (human) RGD PMID:26980022 RGD:151361125 NCBI chr12:34,631,574...34,695,021
Ensembl chr12:34,635,228...34,694,378 		JBrowse link
G RUNX1 RUNX family transcription factor 1 ISO mRNA:increased expression:intrahepatic bile duct RGD PMID:31015363 RGD:126775143 NCBI chr13:198,371,835...198,635,648
Ensembl chr13:198,371,837...198,638,189 		JBrowse link
G S100B S100 calcium binding protein B disease_progression ISO protein:increased expression:intrahepatic bile duct (human) RGD PMID:30377796 RGD:152998946
G SMAD4 SMAD family member 4 disease_progression ISO mRNA,protein:decreased expression:intrahepatic bile duct RGD PMID:16917866 PMID:23981608 RGD:18936999 RGD:21066336 NCBI chr 1:100,521,843...100,633,501
Ensembl chr 1:100,589,850...100,628,029 		JBrowse link
G TEP1 telomerase associated protein 1 ISO mRNA:increased expression:hepatocyte,biliary epithelium. RGD PMID:10498642 RGD:152977753 NCBI chr 7:78,488,248...78,530,185
Ensembl chr 7:78,491,053...78,530,183 		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 ISO ClinVar Annotator: match by term: Klatskin tumor ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:116,913,354...116,985,303
Ensembl chr 2:116,812,582...117,034,887 		JBrowse link
G ARID1A AT-rich interaction domain 1A disease_progression ISO DNA:deletions RGD PMID:33387086 RGD:126848756 NCBI chr 6:84,049,729...84,124,302
Ensembl chr 6:84,049,087...84,123,349 		JBrowse link
G GATA6 GATA binding protein 6 sexual_dimorphism ISO DNA:mutations RGD PMID:33387086 RGD:126848756 NCBI chr 6:107,282,709...107,314,725
Ensembl chr 6:107,282,849...107,314,626 		JBrowse link
G KMT2C lysine methyltransferase 2C onset ISO DNA:mutations RGD PMID:33387086 RGD:126848756 NCBI chr18:4,993,213...5,279,668
Ensembl chr18:4,993,227...5,278,723 		JBrowse link
G KRAS KRAS proto-oncogene, GTPase disease_progression ISO DNA:mutations RGD PMID:33387086 RGD:126848756 NCBI chr 5:48,508,774...48,546,260
Ensembl chr 5:48,508,811...48,549,358 		JBrowse link
G PREX2 phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 2 sexual_dimorphism ISO DNA:substitutions, insertion/deletions: (human) RGD PMID:33387086 RGD:126848756 NCBI chr 4:66,712,412...66,996,258
Ensembl chr 4:66,715,237...66,996,044 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17412
    disease of cellular proliferation 7152
      Neoplasms by Histologic Type 4983
        Glandular and Epithelial Neoplasms 3524
          carcinoma 3049
            adenocarcinoma 1605
              bile duct adenocarcinoma 129
                cholangiocarcinoma 129
                  extrahepatic bile duct carcinoma + 6
                  intrahepatic cholangiocarcinoma + 30
                  squamous cell bile duct carcinoma + 0
Path 2
Term Annotations click to browse term
  disease 17412
    disease of anatomical entity 14873
      gastrointestinal system disease 6423
        Digestive System Neoplasms 3666
          Gastrointestinal Neoplasms 3552
            gastrointestinal system benign neoplasm 220
              hepatobiliary benign neoplasm 171
                biliary tract benign neoplasm 143
                  Bile Duct Neoplasms 140
                    bile duct cancer 139
                      bile duct carcinoma 129
                        bile duct adenocarcinoma 129
                          cholangiocarcinoma 129
                            extrahepatic bile duct carcinoma + 6
                            intrahepatic cholangiocarcinoma + 30
                            squamous cell bile duct carcinoma + 0
paths to the root