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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:biliary tract cancer
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Accession:DOID:4607 term browser browse the term
Definition:A hepatobiliary system cancer that results_in malignant growth located_in the gallbladder or located_in the bile duct. (DO)
Synonyms:exact_synonym: malignant tumour of biliary tract
 primary_id: RDO:9003932
 xref: GARD:5924;   GARD:9304;   ICD10CM:C24.9;   ICD9CM:156.9
For additional species annotation, visit the Alliance of Genome Resources.

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show annotations for term's descendants           Sort by:
biliary tract cancer term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APOB apolipoprotein B ISO protein:increased expression:serum RGD PMID:18076041 RGD:2325763 NCBI chr14:86,624,209...86,669,175
Ensembl chr14:86,624,332...86,668,704 		JBrowse link
G CYP1A1 cytochrome P450 family 1 subfamily A member 1 ISO DNA:polymorphism:exon:rs2606345 (human) RGD PMID:19168589 RGD:2317210 NCBI chr26:8,753,236...8,759,378
Ensembl chr26:8,753,327...8,759,384 		JBrowse link
G PPARD peroxisome proliferator activated receptor delta ISO RGD PMID:18497548 RGD:2324871 NCBI chr17:36,695,546...36,779,554
Ensembl chr17:36,695,494...36,779,577 		JBrowse link
adenosquamous gallbladder carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DDR2 discoidin domain receptor tyrosine kinase 2 disease_progression ISO RGD PMID:29043607 RGD:150429712 NCBI chr20:1,298,636...1,451,872
Ensembl chr20:1,299,574...1,359,674 		JBrowse link
G LOC103238018 interferon-induced transmembrane protein 1 disease_progression ISO RGD PMID:29043607 RGD:150429712 NCBI chr 1:128,309...129,543 JBrowse link
bile duct adenocarcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLC7A5 solute carrier family 7 member 5 disease_progression ISO RGD PMID:24131658 RGD:151361287 NCBI chr 5:73,229,953...73,269,801
Ensembl chr 5:73,229,951...73,269,754 		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 ISO DNA:polymorphisms:intron, exon:IVS6+360C>T, 56C>T (human) RGD PMID:18296645 RGD:2317550 NCBI chr14:86,624,209...86,669,175
Ensembl chr14:86,624,332...86,668,704 		JBrowse link
G APOE apolipoprotein E susceptibility ISO DNA:SNP:intron:rs440446 (human) RGD PMID:18296645 RGD:2317550 NCBI chr 6:38,377,154...38,381,219
Ensembl chr 6:38,376,887...38,381,438 		JBrowse link
G ATM ATM serine/threonine kinase ISO ClinVar Annotator: match by term: Bile duct cancer ClinVar PMID:9887333 PMID:17124347 PMID:20077034 PMID:25741868 PMID:26635394 More... NCBI chr 1:99,653,208...99,786,889
Ensembl chr 1:99,653,139...99,791,520 		JBrowse link
G MLH1 mutL homolog 1 ISO ClinVar Annotator: match by term: Bile duct cancer ClinVar PMID:15340264 PMID:17510385 PMID:18307539 PMID:19419416 PMID:22136435 More... NCBI chr15:2,364,537...2,418,379
Ensembl chr15:2,364,738...2,418,393 		JBrowse link
G MSH2 mutS homolog 2 ISO ClinVar Annotator: match by term: Bile duct cancer ClinVar PMID:25741868 PMID:33357406 NCBI chr14:59,730,101...59,802,857
Ensembl chr14:59,729,789...59,802,819 		JBrowse link
G PALB2 partner and localizer of BRCA2 ISO ClinVar Annotator: match by term: Bile duct cancer ClinVar PMID:25741868 PMID:26467025 PMID:28492532 PMID:30287823 NCBI chr 5:21,322,952...21,358,363
Ensembl chr 5:21,322,975...21,358,198 		JBrowse link
G PKD1 polycystin 1, transient receptor potential channel interacting ISO ClinVar Annotator: match by term: Bile duct cancer ClinVar PMID:12007219 PMID:16430766 PMID:17574468 PMID:25741868 PMID:26467025 More... NCBI chr 5:1,985,165...2,031,518
Ensembl chr 5:1,983,632...2,015,551 		JBrowse link
G STK11 serine/threonine kinase 11 ISO ClinVar Annotator: match by term: Bile duct cancer ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:973,033...996,857
Ensembl chr 6:974,144...995,136 		JBrowse link
G TJP1 tight junction protein 1 ISO protein:decreased expression:bile duct RGD PMID:19184677 RGD:2325030 NCBI chr26:52,623,751...52,750,037
Ensembl chr26:52,622,743...52,749,950 		JBrowse link
bile duct carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MSLN mesothelin ISO protein:increased expression:bile duct RGD PMID:17276942 RGD:2326059 NCBI chr 5:681,923...690,530
Ensembl chr 5:683,480...690,757 		JBrowse link
G SLC7A5 solute carrier family 7 member 5 disease_progression ISO RGD PMID:24890221 RGD:151361210 NCBI chr 5:73,229,953...73,269,801
Ensembl chr 5:73,229,951...73,269,754 		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 ISO DNA:polymorphism:exon:c.3972C>T (human) RGD PMID:19451719 RGD:2317508 NCBI chr 9:92,826,423...92,902,389
Ensembl chr 9:92,841,818...92,902,265 		JBrowse link
G ADRB2 adrenoceptor beta 2 ISO protein:decreased expression:liver RGD PMID:16292515 RGD:2325640 NCBI chr23:51,445,920...51,447,942
Ensembl chr23:51,446,154...51,447,401 		JBrowse link
G ALB albumin disease_progression ISO RGD PMID:10776430 PMID:17545000 PMID:20431764 RGD:2325679 RGD:2325680 RGD:2325682 NCBI chr 7:21,872,036...21,890,095
Ensembl chr 7:21,876,132...21,891,407 		JBrowse link
G ALOX5 arachidonate 5-lipoxygenase ISO protein:increased expression:bile duct RGD PMID:18507031 RGD:2317521 NCBI chr 9:41,085,257...41,145,760
Ensembl chr 9:41,085,361...41,145,331 		JBrowse link
G ANXA2 annexin A2 disease_progression ISO RGD PMID:20493868 RGD:2325728 NCBI chr26:23,100,000...23,147,687
Ensembl chr26:23,099,992...23,145,457 		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 chr23:15,992,437...16,135,117
Ensembl chr23:16,042,287...16,137,067 		JBrowse link
G APOA1 apolipoprotein A1 ISO protein:decreased expression:serum RGD PMID:19486127 RGD:2325756 NCBI chr 1:108,201,967...108,203,902
Ensembl chr 1:108,201,439...108,203,609 		JBrowse link
G ARID1A AT-rich interaction domain 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:24185509 NCBI chr20:105,981,549...106,066,093
Ensembl chr20:105,981,290...106,065,672 		JBrowse link
G ASPH aspartate beta-hydroxylase ISO RGD PMID:21898484 RGD:6902945 NCBI chr 8:57,378,019...57,599,812
Ensembl chr 8:57,375,894...57,565,259 		JBrowse link
G ATG101 autophagy related 101 disease_progression ISO RGD PMID:35592424 RGD:153350091 NCBI chr11:48,243,200...48,251,129
Ensembl chr11:48,243,216...48,251,371 		JBrowse link
G BAP1 BRCA1 associated deubiquitinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24185509 PMID:25231345 NCBI chr22:13,765,510...13,774,866
Ensembl chr22:13,764,686...13,774,740 		JBrowse link
G BIRC6 baculoviral IAP repeat containing 6 ameliorates ISO mRNA:increased expression:bile duct (human) RGD PMID:31964418 RGD:153344516 NCBI chr14:74,879,597...75,138,462
Ensembl chr14:74,878,700...75,138,441 		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 chr21:109,495,525...109,690,261 JBrowse link
G CXCL8 C-X-C motif chemokine ligand 8 ISO ClinVar Annotator: match by term: Cholangiocarcinoma ClinVar PMID:18550579 NCBI chr 7:22,202,497...22,205,730
Ensembl chr 7:22,202,527...22,204,068 		JBrowse link
G CXCR1 C-X-C motif chemokine receptor 1 ISO ClinVar Annotator: match by term: Cholangiocarcinoma ClinVar PMID:18550579 NCBI chr10:104,052,709...104,056,388
Ensembl chr10:104,053,544...104,054,620 		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 chr 2:9,868,794...9,889,510
Ensembl chr 2:9,868,678...9,885,884 		JBrowse link
G EGF epidermal growth factor ISO ClinVar Annotator: match by term: Cholangiocarcinoma ClinVar PMID:18550579 PMID:25741868 PMID:28492532 NCBI chr 7:57,810,110...57,911,361
Ensembl chr 7:57,811,728...57,911,516 		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 chr21:3,664,622...3,853,492
Ensembl chr21:3,666,339...3,853,239 		JBrowse link
G EPO erythropoietin ISO mRNA, protein:increased expression:liver RGD PMID:23052842 RGD:10400912 NCBI chr28:12,487,222...12,491,986
Ensembl chr28:12,489,766...12,491,908 		JBrowse link
G EPOR erythropoietin receptor ISO mRNA, protein:increased expression:liver RGD PMID:23052842 RGD:10400912 NCBI chr 6:10,313,382...10,320,196
Ensembl chr 6:10,313,775...10,320,066 		JBrowse link
G ERBB2 erb-b2 receptor tyrosine kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16818635 NCBI chr16:66,435,488...66,464,993
Ensembl chr16:66,434,251...66,464,952 		JBrowse link
G EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit no_association
disease_progression 		ISO DNA:SNPs: :g.148525904C>G, (rs2302427), g.148519011C>T (rs6464926), g.148517456T>G (rs17171119) (human)
DNA:SNP: :g.148505302C>T (rs887569) (human) 		RGD PMID:24179546 RGD:126779604 NCBI chr21:117,380,518...117,515,224
Ensembl chr21:117,380,361...117,421,573 		JBrowse link
G FASLG Fas ligand ISO RGD PMID:11029528 RGD:2317746 NCBI chr25:56,488,572...56,496,469
Ensembl chr25:56,489,417...56,496,251 		JBrowse link
G FGF2 fibroblast growth factor 2 ISO protein:increased expression:bile RGD PMID:11478488 RGD:2317765 NCBI chr 7:70,089,394...70,157,423 JBrowse link
G FGFR2 fibroblast growth factor receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26258846 NCBI chr 9:114,234,344...114,354,736
Ensembl chr 9:114,234,250...114,354,704 		JBrowse link
G FSCN1 fascin actin-bundling protein 1 disease_progression ISO protein:increased expression:bile ducts RGD PMID:19721413 RGD:2317780 NCBI chr28:16,127,033...16,142,285
Ensembl chr28:16,127,015...16,142,337 		JBrowse link
G GSTP1 glutathione S-transferase pi 1 treatment ISO human cell line in a mouse model
DNA:hypermethylation:promoter 		RGD PMID:12805482 PMID:15467712 RGD:14401711 RGD:2317198 NCBI chr 1:6,676,897...6,679,936 JBrowse link
G HDAC6 histone deacetylase 6 ISO protein:increased expression:liver: RGD PMID:23370327 RGD:9681560 NCBI chr  X:45,927,625...45,951,636
Ensembl chr  X:45,928,092...45,952,929 		JBrowse link
G HGF hepatocyte growth factor ISO protein:increased expression:serum
mRNA, protein:increased expression: : 		RGD PMID:10827151 PMID:16974053 RGD:2317909 RGD:2317925 NCBI chr21:67,118,785...67,193,506
Ensembl chr21:67,120,722...67,193,504 		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 chr24:38,873,830...38,927,657
Ensembl chr24:38,873,861...38,928,288 		JBrowse link
G HNF1B HNF1 homeobox B ISO CTD Direct Evidence: marker/mechanism CTD PMID:39887605 NCBI chr16:30,033,486...30,097,106
Ensembl chr16:30,036,766...30,097,088 		JBrowse link
G IDH1 isocitrate dehydrogenase (NADP(+)) 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24185509 NCBI chr10:94,021,002...94,039,997
Ensembl chr10:94,020,818...94,039,975 		JBrowse link
G IL10 interleukin 10 ISO ClinVar Annotator: match by term: Cholangiocarcinoma ClinVar PMID:11121048 PMID:14657422 PMID:14657427 PMID:18550579 PMID:25741868 More... NCBI chr25:22,590,389...22,595,877
Ensembl chr25:22,590,962...22,594,836 		JBrowse link
G IL19 interleukin 19 ISO ClinVar Annotator: match by term: Cholangiocarcinoma ClinVar PMID:11121048 PMID:14657422 PMID:14657427 PMID:18550579 PMID:25741868 More... NCBI chr25:22,514,199...22,523,680
Ensembl chr25:22,514,559...22,520,499 		JBrowse link
G IL1B interleukin 1 beta ISO ClinVar Annotator: match by term: Cholangiocarcinoma ClinVar PMID:18550579 NCBI chr14:15,844,628...15,852,652
Ensembl chr14:15,844,672...15,850,729 		JBrowse link
G IL1R2 interleukin 1 receptor type 2 disease_progression ISO mRNA:altered expression:liver (human) RGD PMID:31687280 RGD:152998978 NCBI chr14:5,672,434...5,708,270
Ensembl chr14:5,673,163...5,708,372 		JBrowse link
G IL4R interleukin 4 receptor ISO mRNA:increased expression:bile duct RGD PMID:18798553 RGD:2317263 NCBI chr 5:25,019,638...25,069,732
Ensembl chr 5:25,046,701...25,070,015 		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 chr21:35,577,513...35,582,385
Ensembl chr21:35,577,939...35,582,237 		JBrowse link
G INS insulin disease_progression ISO mRNA:altered expression:liver (human) RGD PMID:31687280 RGD:152998978 NCBI chr 1:1,965,128...1,969,090 JBrowse link
G KCND2 potassium voltage-gated channel subfamily D member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:34418280 NCBI chr21:89,091,939...89,575,464 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 7:13,808,104...13,891,003
Ensembl chr 7:13,808,037...13,890,976 		JBrowse link
G KMT2C lysine methyltransferase 2C ISO CTD Direct Evidence: marker/mechanism CTD PMID:22561520 NCBI chr21:120,299,295...120,587,843
Ensembl chr21:120,301,188...120,587,137 		JBrowse link
G KRAS KRAS proto-oncogene, GTPase ISO CTD Direct Evidence: marker/mechanism CTD PMID:8968066 PMID:22561520 NCBI chr11:24,963,396...25,010,747
Ensembl chr11:24,973,619...25,005,191 		JBrowse link
G KRT7 keratin 7 ISO RGD PMID:18393293 RGD:2317308 NCBI chr11:48,379,460...48,394,638
Ensembl chr11:48,379,465...48,394,643 		JBrowse link
G LOC103224275 glutathione S-transferase Mu 1 ISO RGD PMID:24049014 RGD:14700980 NCBI chr20:23,854,969...23,861,634 JBrowse link
G LOC103226354 cytochrome c ISO RGD PMID:19788692 RGD:2317615 NCBI chr21:33,251,825...33,253,298 JBrowse link
G LOC103227060 serine protease 2 ISO protein:increased expression:serum RGD PMID:8621252 RGD:2324908 NCBI chr21:111,650,502...111,656,688
Ensembl chr21:111,651,681...111,656,699 		JBrowse link
G LOC103231165 isocitrate dehydrogenase (NADP(+)) 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24185509 NCBI chr29:8,633,429...8,650,744
Ensembl chr29:8,633,715...8,650,657 		JBrowse link
G LOC103233851 mucin-16 ISO associated with Opisthorchiasis;protein:increased expression:serum RGD PMID:1653472 RGD:2325142 NCBI chr 6:8,110,087...8,256,015 JBrowse link
G LOC103241787 mucin-6 ISO protein:increased expression: : RGD PMID:10209489 RGD:2325167 NCBI chr 1:822,052...858,589 JBrowse link
G LOC103242066 mucin-4 disease_progression ISO protein:increased expression:bile duct RGD PMID:14752841 PMID:19082442 RGD:2303602 RGD:2324944 NCBI chr15:91,313,060...91,345,172 JBrowse link
G LOC103243509 neuroendocrine secretory protein 55 disease_progression ISO DNA:polymorphism:393T>C (human)
CTD Direct Evidence: marker/mechanism 		RGD
CTD		 PMID:17356712 PMID:22561520 RGD:1601377 NCBI chr 2:5,233,893...5,303,433
Ensembl chr 2:5,233,874...5,249,192 		JBrowse link
G MDM2 MDM2 proto-oncogene disease_progression ISO protein:increased expression:intrahepatic bile duct (human) RGD PMID:15619210 RGD:2317417 NCBI chr11:64,434,203...64,465,490
Ensembl chr11:64,434,261...64,469,890 		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 chr21:85,370,574...85,486,405
Ensembl chr21:85,397,645...85,488,093 		JBrowse link
G MFSD4A major facilitator superfamily domain containing 4A disease_progression ISO mRNA:altered expression:liver (human) RGD PMID:31687280 RGD:152998978 NCBI chr25:23,740,916...23,774,514
Ensembl chr25:23,743,360...23,774,451 		JBrowse link
G MGMT O-6-methylguanine-DNA methyltransferase ISO DNA:hypermethylation:promoter (human) RGD PMID:17550320 RGD:2317632 NCBI chr 9:122,089,768...122,376,320 JBrowse link
G MKI67 marker of proliferation Ki-67 disease_progression ISO RGD PMID:12903495 RGD:2317705 NCBI chr 9:120,697,183...120,727,039
Ensembl chr 9:120,698,834...120,726,866 		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 5:41,264,382...41,291,657
Ensembl chr 5:41,264,354...41,291,004 		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 chr 2:17,867,267...17,874,757
Ensembl chr 2:17,867,177...17,874,712 		JBrowse link
G MSLN mesothelin ISO CTD Direct Evidence: marker/mechanism CTD PMID:14576474 NCBI chr 5:681,923...690,530
Ensembl chr 5:683,480...690,757 		JBrowse link
G MTHFR methylenetetrahydrofolate reductase susceptibility ISO DNA:polymorphism (human) RGD PMID:17201138 RGD:2317119 NCBI chr20:119,987,667...120,003,611
Ensembl chr20:119,990,133...120,002,950 		JBrowse link
G MUC1 mucin 1, cell surface associated disease_progression ISO protein:increased expression:serum
protein:increased secretion:bile
mRNA:increased expression:bile duct
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 chr20:8,641,701...8,646,739
Ensembl chr20:8,642,842...8,646,962 		JBrowse link
G MUC2 mucin 2, oligomeric mucus/gel-forming ISO mRNA:decreased expression:bile duct RGD PMID:11680592 RGD:2324948 NCBI chr 1:893,554...926,854 JBrowse link
G MUC3A mucin 3A, cell surface associated ISO mRNA:decreased expression:bile duct RGD PMID:11680592 RGD:2324948
G MUC5AC mucin 5AC, oligomeric mucus/gel-forming disease_progression ISO mRNA:increased expression:bile duct
protein:increased expression:serum 		RGD PMID:11680592 PMID:14508831 RGD:2324948 RGD:2324990 NCBI chr 1:981,515...1,018,242 JBrowse link
G MUC5B mucin 5B, oligomeric mucus/gel-forming ISO mRNA:decreased expression:bile duct RGD PMID:11680592 RGD:2324948 NCBI chr 1:1,040,756...1,083,246
Ensembl chr 1:1,042,110...1,081,240 		JBrowse link
G NAT2 N-acetyltransferase 2 ISO DNA:polymorphisms (human) RGD PMID:15901993 RGD:2317172 NCBI chr 8:16,451,144...16,494,961
Ensembl chr 8:16,493,749...16,494,621 		JBrowse link
G NCAM1 neural cell adhesion molecule 1 ISO associated with hepatitis RGD PMID:12031086 RGD:2326079 NCBI chr 1:104,332,622...104,647,258 JBrowse link
G NOS2 nitric oxide synthase 2 ISO protein:increased expression:bile duct
CTD Direct Evidence: marker/mechanism 		RGD
CTD		 PMID:16094703 PMID:16818635 RGD:2325280 NCBI chr16:21,533,011...21,576,645
Ensembl chr16:21,533,484...21,574,257 		JBrowse link
G NOTCH1 notch receptor 1 ISO protein:increased expression:cholangiocyte RGD PMID:15887117 RGD:2325330 NCBI chr12:1,656,815...1,707,566
Ensembl chr12:1,656,918...1,709,585 		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 chr11:95,792,428...95,877,989
Ensembl chr11:95,792,996...95,878,293 		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 chr22:45,757,414...45,763,690 JBrowse link
G OSBP2 oxysterol binding protein 2 ISO mRNA:increased expression:blood RGD PMID:21763455 RGD:41404644 NCBI chr19:13,576,331...13,817,628
Ensembl chr19:13,762,503...13,798,702 		JBrowse link
G OSBPL7 oxysterol binding protein like 7 ISO mRNA:increased expression:blood RGD PMID:21763455 RGD:41404644 NCBI chr16:68,208,121...68,222,684 JBrowse link
G PANX2 pannexin 2 disease_progression ISO mRNA:altered expression:liver (human) RGD PMID:31687280 RGD:152998978 NCBI chr19:32,662,350...32,671,536 JBrowse link
G PAWR pro-apoptotic WT1 regulator ISO mRNA,protein:decreased expression:cholangiocyte: RGD PMID:20724592 RGD:9835357 NCBI chr11:75,132,547...75,219,633
Ensembl chr11:75,133,186...75,219,072 		JBrowse link
G PBRM1 polybromo 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24185509 NCBI chr22:13,914,023...14,059,221
Ensembl chr22:13,913,285...14,055,254 		JBrowse link
G PEG3 paternally expressed 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22561520 NCBI chr 6:49,284,174...49,300,162
Ensembl chr 6:49,284,064...49,313,455 		JBrowse link
G PES1 pescadillo ribosomal biogenesis factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:34845814 NCBI chr19:13,453,184...13,469,115
Ensembl chr19:13,453,160...13,469,012 		JBrowse link
G PIR pirin disease_progression ISO mRNA:altered expression:liver (human) RGD PMID:31687280 RGD:152998978 NCBI chr  X:13,854,356...13,966,554
Ensembl chr  X:13,854,236...13,966,506 		JBrowse link
G PPIA peptidylprolyl isomerase A ameliorates ISO human cell line and construct in a mouse model RGD PMID:21871105 RGD:150429623 NCBI chr21:13,876,099...13,883,546
Ensembl chr21:13,876,099...13,883,462 		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 7:49,149,044...49,478,796
Ensembl chr 7:49,148,933...49,321,013 		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 8:63,781,892...64,061,222
Ensembl chr 8:63,781,948...64,060,864 		JBrowse link
G PRKACA protein kinase cAMP-activated catalytic subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:26258846 NCBI chr 6:12,743,752...12,759,155 JBrowse link
G PRKACB protein kinase cAMP-activated catalytic subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:26258846 NCBI chr20:49,109,774...49,273,200
Ensembl chr20:49,108,425...49,178,806 		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 1:32,368,966...32,391,490
Ensembl chr 1:32,364,771...32,390,977 		JBrowse link
G PRSS56 serine protease 56 disease_progression ISO mRNA:altered expression:liver (human) RGD PMID:31687280 RGD:152998978 NCBI chr10:118,538,752...118,545,759
Ensembl chr10:118,540,863...118,545,740 		JBrowse link
G PTEN phosphatase and tensin homolog ISO CTD Direct Evidence: marker/mechanism RGD
CTD		 PMID:23376645 PMID:27022031 RGD:12802341 NCBI chr 9:81,308,058...81,412,386
Ensembl chr 9:81,309,099...81,409,146 		JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 ISO ClinVar Annotator: match by term: Cholangiocarcinoma ClinVar NCBI chr25:42,733,535...42,742,463
Ensembl chr25:42,734,771...42,742,429 		JBrowse link
G RASSF8 Ras association domain family member 8 disease_progression ISO mRNA:altered expression:liver (human) RGD PMID:31687280 RGD:152998978 NCBI chr11:25,709,062...25,826,507
Ensembl chr11:25,745,996...25,826,508 		JBrowse link
G RNF39 ring finger protein 39 disease_progression ISO mRNA:altered expression:liver (human) RGD PMID:31687280 RGD:152998978 NCBI chr17:42,423,486...42,429,631
Ensembl chr17:42,424,126...42,428,787 		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 chr16:34,981,126...35,046,478
Ensembl chr16:34,980,922...35,045,107 		JBrowse link
G ROBO2 roundabout guidance receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22561520 NCBI chr22:99,334,033...101,101,924 JBrowse link
G RUNX3 RUNX family transcription factor 3 ISO protein:decreased expression:bile duct RGD PMID:19827872 RGD:2324955 NCBI chr20:107,769,244...107,802,154
Ensembl chr20:107,736,683...107,802,307 		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 7:19,581,399...20,043,334 JBrowse link
G SLC5A5 solute carrier family 5 member 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17408651 NCBI chr 6:16,346,361...16,367,833 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 5:73,229,953...73,269,801
Ensembl chr 5:73,229,951...73,269,754 		JBrowse link
G SMAD4 SMAD family member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22561520 NCBI chr18:29,894,157...29,951,445
Ensembl chr18:29,897,621...29,934,478 		JBrowse link
G SOCS3 suppressor of cytokine signaling 3 severity ISO protein:decreased expression:bile duct (human) RGD PMID:26485275 RGD:11250478 NCBI chr16:70,353,099...70,356,401
Ensembl chr16:70,354,746...70,355,423 		JBrowse link
G SOX17 SRY-box transcription factor 17 severity ISO RGD PMID:20816680 RGD:4889598 NCBI chr 8:50,523,816...50,527,360
Ensembl chr 8:50,524,893...50,527,847 		JBrowse link
G SOX2 SRY-box transcription factor 2 disease_progression ISO mRNA:altered expression:liver (human) RGD PMID:31687280 RGD:152998978 NCBI chr15:7,673,581...7,676,812
Ensembl chr15:7,674,867...7,675,826 		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 6:35,651,583...35,674,387
Ensembl chr 6:35,648,677...35,674,365 		JBrowse link
G TGFBR2 transforming growth factor beta receptor 2 ISO mRNA:increased expression:bile duct RGD PMID:12632524 RGD:1299231 NCBI chr15:75,112,903...75,200,263
Ensembl chr15:75,112,561...75,197,711 		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 chr26:43,410,693...43,427,816
Ensembl chr26:43,410,580...43,427,812 		JBrowse link
G TNC tenascin C severity ISO RGD PMID:20816680 RGD:4889598 NCBI chr12:24,457,616...24,556,194
Ensembl chr12:24,457,738...24,556,451 		JBrowse link
G TNFAIP3 TNF alpha induced protein 3 severity ISO protein:increased expression:bile duct (human) RGD PMID:26485275 RGD:11250478 NCBI chr13:35,537,103...35,553,396
Ensembl chr13:35,537,102...35,549,197 		JBrowse link
G TP53 tumor protein p53 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16818635 PMID:22561520 NCBI chr16:7,047,686...7,065,567
Ensembl chr16:7,045,146...7,066,223 		JBrowse link
G TTR transthyretin ISO protein:decreased expression:blood serum (human) RGD PMID:18275060 RGD:151660506 NCBI chr18:49,124,302...49,131,495
Ensembl chr18:49,124,121...49,131,399 		JBrowse link
G VEGFA vascular endothelial growth factor A ISO ClinVar Annotator: match by term: Cholangiocarcinoma ClinVar PMID:18550579 NCBI chr17:28,377,959...28,394,508 JBrowse link
G WDHD1 WD repeat and HMG-box DNA binding protein 1 ameliorates ISO RGD PMID:30314946 RGD:156420141 NCBI chr24:32,118,688...32,204,464
Ensembl chr24:32,117,375...32,204,388 		JBrowse link
G WNT9A Wnt family member 9A disease_progression ISO mRNA:altered expression:liver (human) RGD PMID:31687280 RGD:152998978 NCBI chr25:1,759,047...1,787,510
Ensembl chr25:1,781,826...1,788,663 		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 deubiquitinase 1 disease_progression ISO RGD PMID:25536104 RGD:150340631 NCBI chr22:13,765,510...13,774,866
Ensembl chr22:13,764,686...13,774,740 		JBrowse link
G PBRM1 polybromo 1 disease_progression ISO RGD PMID:25536104 RGD:150340631 NCBI chr22:13,914,023...14,059,221
Ensembl chr22:13,913,285...14,055,254 		JBrowse link
G RAC1 Rac family small GTPase 1 ISO protein:increased expression:mucosa (human) RGD PMID:21537609 RGD:153350126 NCBI chr28:15,583,609...15,610,753
Ensembl chr28:15,583,516...15,610,328 		JBrowse link
G SLC7A5 solute carrier family 7 member 5 disease_progression ISO RGD PMID:24890221 RGD:151361210 NCBI chr 5:73,229,953...73,269,801
Ensembl chr 5:73,229,951...73,269,754 		JBrowse link
extrahepatic bile duct carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PKD1 polycystin 1, transient receptor potential channel interacting ISO ClinVar Annotator: match by term: Extrahepatic bile duct cancer ClinVar PMID:25741868 NCBI chr 5:1,985,165...2,031,518
Ensembl chr 5:1,983,632...2,015,551 		JBrowse link
G XPO1 exportin 1 disease_progression ISO protein:increased expression:extrahepatic bile duct (human) RGD PMID:27279267 RGD:151665800 NCBI chr14:45,428,279...45,487,965
Ensembl chr14:45,432,619...45,488,723 		JBrowse link
gallbladder adenocarcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CDK1 cyclin dependent kinase 1 ISO protein:increased expression:gallbladder RGD PMID:15017593 RGD:2722465 NCBI chr 9:70,475,736...70,492,947 JBrowse link
G DDR2 discoidin domain receptor tyrosine kinase 2 disease_progression ISO RGD PMID:29043607 RGD:150429712 NCBI chr20:1,298,636...1,451,872
Ensembl chr20:1,299,574...1,359,674 		JBrowse link
G LOC103238018 interferon-induced transmembrane protein 1 disease_progression ISO RGD PMID:29043607 RGD:150429712 NCBI chr 1:128,309...129,543 JBrowse link
gallbladder cancer term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APC APC regulator of WNT signaling pathway disease_progression ISO DNA:SNP::rs11954856(human) RGD PMID:26715268 RGD:151356500 NCBI chr23:15,992,437...16,135,117
Ensembl chr23:16,042,287...16,137,067 		JBrowse link
G APOB apolipoprotein B susceptibility ISO DNA:SNP: :rs693 (human) RGD PMID:17696941 PMID:20082485 RGD:2325761 RGD:2325764 NCBI chr14:86,624,209...86,669,175
Ensembl chr14:86,624,332...86,668,704 		JBrowse link
G APOE apolipoprotein E susceptibility ISO DNA:SNP:intron:rs440446 (human) RGD PMID:18296645 RGD:2317550 NCBI chr 6:38,377,154...38,381,219
Ensembl chr 6:38,376,887...38,381,438 		JBrowse link
G AXIN2 axin 2 disease_progression ISO DNA:SNP::s4791171(human) RGD PMID:26715268 RGD:151356500 NCBI chr16:55,874,043...55,906,739
Ensembl chr16:55,874,072...55,907,281 		JBrowse link
G BRAF B-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Gallbladder cancer ClinVar NCBI chr21:109,495,525...109,690,261 JBrowse link
G BUB1B BUB1 mitotic checkpoint serine/threonine kinase B ISO mRNA:increased expression:gallbladder RGD PMID:18497548 RGD:2324871 NCBI chr26:42,769,955...42,855,353
Ensembl chr26:42,792,830...42,855,306 		JBrowse link
G CALR calreticulin exacerbates ISO mRNA, protein:increased expression:gall bladder (human) RGD PMID:33591948 RGD:150521682 NCBI chr 6:11,618,691...11,624,299
Ensembl chr 6:11,618,396...11,623,792 		JBrowse link
G CCR5 C-C motif chemokine receptor 5 onset ISO DNA:frameshift mutation:cds:p.S185_T195del rs333 (human) RGD PMID:18405329 RGD:2317570 NCBI chr22:7,803,794...7,818,112 JBrowse link
G CTNNB1 catenin beta 1 ISO ClinVar Annotator: match by term: Gallbladder cancer ClinVar PMID:10435629 PMID:26822237 NCBI chr22:2,679,488...2,725,034
Ensembl chr22:2,684,022...2,723,949 		JBrowse link
G CYP17A1 cytochrome P450 family 17 subfamily A member 1 susceptibility ISO DNA:transition:5' utr:-34T>C rs743572 (human) RGD PMID:16381022 RGD:2317619 NCBI chr 9:95,870,098...95,877,345
Ensembl chr 9:95,866,908...95,877,180 		JBrowse link
G CYP1A1 cytochrome P450 family 1 subfamily A member 1 ISO DNA:polymorphism: :p.I462V (human)
DNA:transition: :6235T>C (human) 		RGD PMID:18287863 PMID:18990008 RGD:2317211 RGD:2317212 NCBI chr26:8,753,236...8,759,378
Ensembl chr26:8,753,327...8,759,384 		JBrowse link
G DPYD dihydropyrimidine dehydrogenase disease_progression ISO RGD PMID:16619549 RGD:2317631 NCBI chr20:35,376,738...36,215,388
Ensembl chr20:35,377,266...36,215,679 		JBrowse link
G EGF epidermal growth factor susceptibility ISO DNA:SNP: :+61A>G (rs4444903)(human) RGD PMID:8093356 PMID:18571008 RGD:2317641 RGD:2317646 NCBI chr 7:57,810,110...57,911,361
Ensembl chr 7:57,811,728...57,911,516 		JBrowse link
G GLI1 GLI family zinc finger 1 disease_progression ISO DNA:SNP::rs2228226(human) RGD PMID:26715268 RGD:151356500 NCBI chr11:53,371,929...53,384,339
Ensembl chr11:53,375,558...53,385,269 		JBrowse link
G JUNB JunB proto-oncogene, AP-1 transcription factor subunit exacerbates ISO protein:increased expression:gall bladder (human) RGD PMID:26318166 RGD:11528126 NCBI chr 6:11,479,108...11,480,942
Ensembl chr 6:11,479,407...11,480,450 		JBrowse link
G KEAP1 kelch like ECH associated protein 1 ISO DNA:missense mutations, frameshift mutations:cds:multiple (human) RGD PMID:18692501 RGD:6893398 NCBI chr 6:9,515,789...9,526,699
Ensembl chr 6:9,515,416...9,522,797 		JBrowse link
G KRAS KRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Gallbladder cancer ClinVar PMID:6320174 PMID:11745231 PMID:15696205 PMID:16051643 PMID:17704260 More... NCBI chr11:24,963,396...25,010,747
Ensembl chr11:24,973,619...25,005,191 		JBrowse link
G LOC103224275 glutathione S-transferase Mu 1 ISO RGD PMID:26925680 RGD:14700928 NCBI chr20:23,854,969...23,861,634 JBrowse link
G LRP1B LDL receptor related protein 1B ameliorates ISO DNA:mutations:multiple: (human) RGD PMID:32898339 RGD:150429787 NCBI chr10:25,611,400...27,511,903
Ensembl chr10:25,616,590...26,609,111 		JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha ISO ClinVar Annotator: match by term: Gallbladder cancer ClinVar PMID:15520168 PMID:15608678 PMID:15930273 PMID:17673550 PMID:21078999 More... NCBI chr15:10,218,034...10,304,874
Ensembl chr15:10,218,805...10,294,316 		JBrowse link
G RBP4 retinol binding protein 4 disease_progression ISO associated with type 2 diabetes mellitus; protein:decreased expression:blood serum (human) RGD PMID:37273108 RGD:329849105 NCBI chr 9:86,831,042...86,840,668
Ensembl chr 9:86,830,957...86,840,250 		JBrowse link
G RICTOR RPTOR independent companion of MTOR complex 2 ISO DNA:CNV, amplification:exon (human) RGD PMID:24508317 RGD:152995522 NCBI chr 4:37,758,531...37,885,323
Ensembl chr 4:37,762,901...37,873,766 		JBrowse link
G SMAD4 SMAD family member 4 ISO ClinVar Annotator: match by term: Gallbladder cancer ClinVar PMID:10479724 PMID:10764709 PMID:16152648 PMID:16436638 PMID:21465659 More... NCBI chr18:29,894,157...29,951,445
Ensembl chr18:29,897,621...29,934,478 		JBrowse link
G TP53 tumor protein p53 ISO ClinVar Annotator: match by term: Gallbladder cancer ClinVar PMID:1631137 PMID:1978757 PMID:7478555 PMID:7791795 PMID:8023157 More... NCBI chr16:7,047,686...7,065,567
Ensembl chr16:7,045,146...7,066,223 		JBrowse link
G XRCC1 X-ray repair cross complementing 1 susceptibility ISO DNA:polymorphisms: :p.R194W, p.R399Q (human) RGD PMID:19266243 RGD:2317128 NCBI chr 6:37,062,149...37,095,138
Ensembl chr 6:37,060,439...37,095,094 		JBrowse link
gallbladder carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABO ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase ISO RGD PMID:7795450 RGD:2317512 NCBI chr12:4,863,100...4,892,204
Ensembl chr12:4,863,165...4,885,849 		JBrowse link
G ACTR3 actin related protein 3 severity ISO Squamous Cell/Adenosquamous Carcinoma and Adenocarcinoma;protein:increased expression:gall bladder (human) RGD PMID:23320827 RGD:11571623 NCBI chr10:16,296,350...16,369,561
Ensembl chr10:16,297,502...16,369,220 		JBrowse link
G ANTXR1 ANTXR cell adhesion molecule 1 severity ISO RGD PMID:21545221 RGD:9684943 NCBI chr14:37,849,911...38,116,339
Ensembl chr14:37,877,436...38,115,938 		JBrowse link
G BIRC3 baculoviral IAP repeat containing 3 exacerbates ISO mRNA:increased expression:gall bladder (human) RGD PMID:28295868 RGD:153297817 NCBI chr 1:93,692,239...93,711,905 JBrowse link
G CFL1 cofilin 1 severity ISO Squamous Cell/Adenosquamous Carcinoma and Adenocarcinoma;protein:increased expression:gall bladder (human) RGD PMID:23320827 RGD:11571623 NCBI chr 1:8,408,560...8,410,564 JBrowse link
G CLPTM1L CLPTM1 like susceptibility ISO DNA:SNP, haplotype: :rs401681(human) RGD PMID:29450669 RGD:150530629 NCBI chr 4:1,140,272...1,162,663
Ensembl chr 4:1,140,132...1,162,898 		JBrowse link
G GPX3 glutathione peroxidase 3 severity ISO protein:decreased expression:gallbladder (human) RGD PMID:24167362 RGD:151665515 NCBI chr23:53,576,950...53,585,321 JBrowse link
G IL10 interleukin 10 susceptibility ISO associated with Cholelithiasis RGD PMID:19065724 RGD:2317654 NCBI chr25:22,590,389...22,595,877
Ensembl chr25:22,590,962...22,594,836 		JBrowse link
G LOC103219825 protein patched homolog 1 disease_progression ISO RGD PMID:22407314 RGD:150523794 NCBI chr12:107,580,895...107,656,443
Ensembl chr12:107,590,663...107,652,985 		JBrowse link
G MTUS1 microtubule associated scaffold protein 1 disease_progression ISO RGD PMID:31882471 RGD:25330344 NCBI chr 8:15,739,220...15,899,834
Ensembl chr 8:15,741,294...15,853,293 		JBrowse link
G RAC1 Rac family small GTPase 1 exacerbates ISO protein:increased expression:gallbladder (human) RGD PMID:21853342 RGD:155230819 NCBI chr28:15,583,609...15,610,753
Ensembl chr28:15,583,516...15,610,328 		JBrowse link
G TERT telomerase reverse transcriptase susceptibility ISO DNA:SNP, haplotype: :rs2736100(human) RGD PMID:29450669 RGD:150530629 NCBI chr 4:1,082,894...1,119,373
Ensembl chr 4:1,083,384...1,117,468 		JBrowse link
G TGFA transforming growth factor alpha ISO RGD PMID:9542514 RGD:2317470 NCBI chr14:36,545,641...36,654,213
Ensembl chr14:36,545,875...36,648,237 		JBrowse link
G TJP1 tight junction protein 1 ISO protein:decreased expression:gallbladder RGD PMID:19184677 RGD:2325030 NCBI chr26:52,623,751...52,750,037
Ensembl chr26:52,622,743...52,749,950 		JBrowse link
G TYMP thymidine phosphorylase disease_progression ISO RGD PMID:18946757 RGD:2325157 NCBI chr19:32,997,337...33,001,558
Ensembl chr19:32,997,304...33,001,215 		JBrowse link
G UBR5 ubiquitin protein ligase E3 component n-recognin 5 ameliorates ISO human cell line in a mouse model RGD PMID:30775814 RGD:151665192 NCBI chr 8:97,104,325...97,257,317
Ensembl chr 8:97,103,220...97,257,440 		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 chr23:15,992,437...16,135,117
Ensembl chr23:16,042,287...16,137,067 		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 chr20:105,981,549...106,066,093
Ensembl chr20:105,981,290...106,065,672 		JBrowse link
G BAP1 BRCA1 associated deubiquitinase 1 disease_progression ISO RGD PMID:27864835 RGD:150340628 NCBI chr22:13,765,510...13,774,866
Ensembl chr22:13,764,686...13,774,740 		JBrowse link
G BECN1 beclin 1 disease_progression ISO RGD PMID:30849962 RGD:14974231 NCBI chr16:63,469,187...63,482,627
Ensembl chr16:63,469,192...63,485,322 		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 chr21:109,495,525...109,690,261 JBrowse link
G FASLG Fas ligand severity ISO RGD PMID:11003620 RGD:14700701 NCBI chr25:56,488,572...56,496,469
Ensembl chr25:56,489,417...56,496,251 		JBrowse link
G FOXP3 forkhead box P3 ISO DNA:hypomethylation:liver RGD PMID:24291052 RGD:38599002 NCBI chr  X:46,349,890...46,365,133 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 NCBI chr24:80,016,352...80,019,130
Ensembl chr24:80,016,232...80,019,120 		JBrowse link
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 chr17:27,914,261...27,921,666
Ensembl chr17:27,911,013...27,921,251 		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 chr10:94,021,002...94,039,997
Ensembl chr10:94,020,818...94,039,975 		JBrowse link
G KDM5C lysine demethylase 5C exacerbates ISO protein:decreased expression:bile duct (human) RGD PMID:32714863 RGD:151361175 NCBI chr  X:49,306,472...49,356,151
Ensembl chr  X:49,321,173...49,356,100 		JBrowse link
G KRAS KRAS proto-oncogene, GTPase disease_progression ISO DNA:mutations:: RGD
MouseDO		 PMID:24139215 RGD:14398746 NCBI chr11:24,963,396...25,010,747
Ensembl chr11:24,973,619...25,005,191 		JBrowse link
G LCN2 lipocalin 2 treatment ISO Protein:increased expression:bile duct RGD PMID:24939880 RGD:126790491 NCBI chr12:9,976,278...9,981,087
Ensembl chr12:9,976,614...9,980,870 		JBrowse link
G LOC103231165 isocitrate dehydrogenase (NADP(+)) 2 disease_progression ISO DNA:mutations: :
mRNA:decreased expression:liver (mouse) 		RGD PMID:22824796 PMID:32463951 RGD:149735894 RGD:14985256 NCBI chr29:8,633,429...8,650,744
Ensembl chr29:8,633,715...8,650,657 		JBrowse link
G LRP1B LDL receptor related protein 1B exacerbates ISO DNA:mutations:multiple: (human) RGD PMID:33014052 RGD:150429786 NCBI chr10:25,611,400...27,511,903
Ensembl chr10:25,616,590...26,609,111 		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 chr22:26,383,310...27,057,081
Ensembl chr22:26,384,511...26,645,528 		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 chr22:13,914,023...14,059,221
Ensembl chr22:13,913,285...14,055,254 		JBrowse link
G PTEN phosphatase and tensin homolog disease_progression ISO protein:decreased expression:liver (human) RGD PMID:24796583 RGD:152177907 NCBI chr 9:81,308,058...81,412,386
Ensembl chr 9:81,309,099...81,409,146 		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 chr16:34,981,126...35,046,478
Ensembl chr16:34,980,922...35,045,107 		JBrowse link
G S100B S100 calcium binding protein B disease_progression ISO protein:increased expression:intrahepatic bile duct (human) RGD PMID:30377796 RGD:152998946 NCBI chr 2:90,188,820...90,194,986
Ensembl chr 2:90,188,639...90,195,023 		JBrowse link
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 chr18:29,894,157...29,951,445
Ensembl chr18:29,897,621...29,934,478 		JBrowse link
G TEP1 telomerase associated protein 1 ISO mRNA:increased expression:hepatocyte,biliary epithelium. RGD PMID:10498642 RGD:152977753 NCBI chr29:20,880,255...20,928,874
Ensembl chr29:20,883,678...20,923,313 		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 chr23:15,992,437...16,135,117
Ensembl chr23:16,042,287...16,137,067 		JBrowse link
G ARID1A AT-rich interaction domain 1A disease_progression ISO DNA:deletions RGD PMID:33387086 RGD:126848756 NCBI chr20:105,981,549...106,066,093
Ensembl chr20:105,981,290...106,065,672 		JBrowse link
G GATA6 GATA binding protein 6 sexual_dimorphism ISO DNA:mutations RGD PMID:33387086 RGD:126848756 NCBI chr18:58,312,328...58,345,472
Ensembl chr18:58,311,482...58,343,746 		JBrowse link
G KMT2C lysine methyltransferase 2C onset ISO DNA:mutations RGD PMID:33387086 RGD:126848756 NCBI chr21:120,299,295...120,587,843
Ensembl chr21:120,301,188...120,587,137 		JBrowse link
G KRAS KRAS proto-oncogene, GTPase disease_progression ISO DNA:mutations RGD PMID:33387086 RGD:126848756 NCBI chr11:24,963,396...25,010,747
Ensembl chr11:24,973,619...25,005,191 		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 8:63,781,892...64,061,222
Ensembl chr 8:63,781,948...64,060,864 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15420
    disease of cellular proliferation 7320
      cancer 5366
        organ system cancer 5129
          gastrointestinal system cancer 2750
            hepatobiliary system cancer 1000
              biliary tract cancer 165
                bile duct cancer + 133
                gallbladder cancer + 44
Path 2
Term Annotations click to browse term
  disease 15420
    disease of anatomical entity 15083
      gastrointestinal system disease 6470
        Digestive System Neoplasms 3622
          Gastrointestinal Neoplasms 3505
            gastrointestinal system cancer 2750
              hepatobiliary system cancer 1000
                biliary tract cancer 165
                  bile duct cancer + 133
                  gallbladder cancer + 44
paths to the root