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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.


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 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 CYP1A1 cytochrome P450 family 1 subfamily A member 1 IAGP DNA:polymorphism:exon:rs2606345 (human) RGD PMID:19168589 RGD:2317210 NCBI chr15:74,719,542...74,725,528
Ensembl chr15:74,719,542...74,725,536 		JBrowse link
G PPARD peroxisome proliferator activated receptor delta IEP RGD PMID:18497548 RGD:2324871 NCBI chr 6:35,342,558...35,428,178
Ensembl chr 6:35,342,558...35,428,191 		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 IDA RGD PMID:29043607 RGD:150429712 NCBI chr 1:162,630,863...162,787,405
Ensembl chr 1:162,631,373...162,787,405 		JBrowse link
G IFITM1 interferon induced transmembrane protein 1 disease_progression IDA RGD PMID:29043607 RGD:150429712 NCBI chr11:314,040...315,272
Ensembl chr11:310,041...315,272 		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 IEP RGD PMID:24131658 RGD:151361287 NCBI chr16:87,830,023...87,869,507
Ensembl chr16:87,830,016...87,869,507 		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 chr11:108,223,067...108,369,102
Ensembl chr11:108,222,804...108,369,102 		JBrowse link
G MIR31 microRNA 31 exacerbates IEP RNA:increased expression:bile duct (human) RGD PMID:29860474 RGD:152998990 NCBI chr 9:21,512,115...21,512,185
Ensembl chr 9:21,512,115...21,512,185 		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 3:36,993,466...37,050,846
Ensembl chr 3:36,993,226...37,050,896 		JBrowse link
G MSH2 mutS homolog 2 IAGP ClinVar Annotator: match by term: Bile duct cancer ClinVar PMID:25741868 PMID:33357406 NCBI chr 2:47,403,067...47,709,830
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:26467025 PMID:28492532 PMID:30287823 NCBI chr16:23,603,165...23,641,310
Ensembl chr16:23,603,160...23,641,321 		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:25741868 PMID:26467025 PMID:28492532 NCBI chr19:50,384,323...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
G SLC7A5 solute carrier family 7 member 5 disease_progression IEP RGD PMID:24890221 RGD:151361210 NCBI chr16:87,830,023...87,869,507
Ensembl chr16:87,830,016...87,869,507 		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 chr10:99,782,640...99,852,594
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 chr10:45,374,216...45,446,117
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...60,397,986
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...47,991,796
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 5:112,707,518...112,846,239 		JBrowse link
G APOA1 apolipoprotein A1 IEP protein:decreased expression:serum RGD PMID:19486127 RGD:2325756 NCBI chr11:116,835,751...116,837,622
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...61,714,592
Ensembl chr 8:61,500,556...61,714,640 		JBrowse link
G ATG101 autophagy related 101 disease_progression IEP RGD PMID:35592424 RGD:153350091 NCBI chr12:52,065,300...52,077,495
Ensembl chr12:52,069,246...52,077,495 		JBrowse link
G BAP1 BRCA1 associated deubiquitinase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:24185509 PMID:25231345 NCBI chr 3:52,401,008...52,410,008
Ensembl chr 3:52,401,008...52,410,008 		JBrowse link
G BIRC6 baculoviral IAP repeat containing 6 ameliorates HEP mRNA:increased expression:bile duct (human) RGD PMID:31964418 RGD:153344516 NCBI chr 2:32,357,023...32,618,878
Ensembl chr 2:32,357,023...32,619,571 		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 CST1 cystatin SN disease_progression IEP mRNA:altered expression:liver (human) RGD PMID:31687280 RGD:152998978 NCBI chr20:23,747,562...23,750,935
Ensembl chr20:23,747,562...23,751,268 		JBrowse link
G CXCL8 C-X-C motif chemokine ligand 8 IAGP ClinVar Annotator: match by term: Cholangiocarcinoma ClinVar PMID:18550579 NCBI chr 4:73,740,569...73,743,716
Ensembl chr 4:73,740,519...73,743,716 		JBrowse link
G CXCR1 C-X-C motif chemokine receptor 1 IAGP ClinVar Annotator: match by term: Cholangiocarcinoma ClinVar PMID:18550579 NCBI chr 2:218,162,841...218,166,962
Ensembl chr 2:218,162,841...218,166,962 		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 CYP24A1 cytochrome P450 family 24 subfamily A member 1 HEP protein:increased expression:intrahepatic bile, extrahepatic bile duct (human) RGD PMID:23375797 RGD:151361187 NCBI chr20:54,143,538...54,173,986
Ensembl chr20:54,153,446...54,173,986 		JBrowse link
G EGF epidermal growth factor IAGP ClinVar Annotator: match by term: Cholangiocarcinoma ClinVar PMID:18550579 PMID:25741868 PMID:28492532 NCBI chr 4:109,912,883...110,013,766
Ensembl chr 4:109,912,883...110,013,766 		JBrowse link
G EGFR epidermal growth factor receptor EXP
IAGP 		CTD Direct Evidence: therapeutic
ClinVar Annotator: match by term: Cholangiocarcinoma 		CTD
ClinVar		 PMID:17341899 PMID:18550579 PMID:24728327 PMID:25741868 PMID:28492532 NCBI chr 7:55,019,017...55,211,628
Ensembl chr 7:55,019,017...55,211,628 		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...39,728,658
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 7:148,807,383...148,884,291
Ensembl chr 7:148,807,257...148,884,321 		JBrowse link
G FAM66C family with sequence similarity 66 member C EXP CTD Direct Evidence: marker/mechanism CTD PMID:34418280 NCBI chr12:8,180,209...8,201,000
Ensembl chr12:8,180,204...8,226,278 		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 4:122,826,682...122,898,236
Ensembl chr 4:122,826,682...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 chr20:58,839,748...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 7:81,699,010...81,770,047
Ensembl chr 7:81,699,010...81,770,438 		JBrowse link
G HIF1A hypoxia inducible factor 1 subunit alpha IAGP ClinVar Annotator: match by term: Cholangiocarcinoma ClinVar PMID:12919954 PMID:18550579 PMID:22647679 PMID:24120591 PMID:25741868 NCBI chr14:61,695,513...61,748,258
Ensembl chr14:61,695,513...61,748,259 		JBrowse link
G HIF1A-AS3 HIF1A antisense RNA 3 IAGP ClinVar Annotator: match by term: Cholangiocarcinoma ClinVar PMID:12919954 PMID:18550579 PMID:22647679 PMID:24120591 PMID:25741868 NCBI chr14:61,715,558...61,751,097
Ensembl chr14:61,678,402...61,751,163 		JBrowse link
G HNF1B HNF1 homeobox B EXP CTD Direct Evidence: marker/mechanism CTD PMID:39887605 NCBI chr17:37,686,431...37,745,059
Ensembl chr17:37,686,431...37,745,059 		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 IL10 interleukin 10 IAGP ClinVar Annotator: match by term: Cholangiocarcinoma ClinVar PMID:11121048 PMID:14657422 PMID:14657427 PMID:18550579 PMID:25741868 More... NCBI chr 1:206,767,602...206,772,494
Ensembl chr 1:206,767,602...206,774,541 		JBrowse link
G IL19 interleukin 19 IAGP ClinVar Annotator: match by term: Cholangiocarcinoma ClinVar PMID:11121048 PMID:14657422 PMID:14657427 PMID:18550579 PMID:25741868 More... NCBI chr 1:206,770,773...206,842,981
Ensembl chr 1:206,770,764...206,842,981 		JBrowse link
G IL1B interleukin 1 beta IAGP ClinVar Annotator: match by term: Cholangiocarcinoma ClinVar PMID:18550579 NCBI chr 2:112,829,751...112,836,779
Ensembl chr 2:112,829,751...112,836,816 		JBrowse link
G IL1R2 interleukin 1 receptor type 2 disease_progression IEP mRNA:altered expression:liver (human) RGD PMID:31687280 RGD:152998978 NCBI chr 2:101,991,960...102,028,544
Ensembl chr 2:101,991,960...102,028,544 		JBrowse link
G IL4R interleukin 4 receptor IEP mRNA:increased expression:bile duct RGD PMID:18798553 RGD:2317263 NCBI chr16:27,313,756...27,364,778
Ensembl chr16:27,313,668...27,364,778 		JBrowse link
G IL6 interleukin 6 IEP
IAGP
EXP 		ClinVar Annotator: match by term: Cholangiocarcinoma
protein:increased expression:serum
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD
RGD		 PMID:9769329 PMID:10720087 PMID:11001912 PMID:11889177 PMID:12519862 More... RGD:2317167, RGD:14975292 NCBI chr 7:22,727,200...22,731,998
Ensembl chr 7:22,725,884...22,732,002 		JBrowse link
G IL6-AS1 IL6 antisense RNA 1 IAGP ClinVar Annotator: match by term: Cholangiocarcinoma ClinVar PMID:9769329 PMID:10720087 PMID:11001912 PMID:11889177 PMID:12519862 More... NCBI chr 7:22,725,395...22,727,620
Ensembl chr 7:22,725,395...22,727,620 		JBrowse link
G INS insulin disease_progression IEP mRNA:altered expression:liver (human) RGD PMID:31687280 RGD:152998978 NCBI chr11:2,159,779...2,161,209
Ensembl chr11:2,159,779...2,161,221 		JBrowse link
G KCND2 potassium voltage-gated channel subfamily D member 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:34418280 NCBI chr 7:120,272,908...120,750,337
Ensembl chr 7:120,273,175...120,750,337 		JBrowse link
G KIT KIT proto-oncogene, receptor tyrosine kinase disease_progression IEP mRNA:altered expression:liver (human) RGD PMID:31687280 RGD:152998978 NCBI chr 4:54,657,957...54,740,715
Ensembl chr 4:54,657,267...54,740,783 		JBrowse link
G KMT2C lysine methyltransferase 2C EXP CTD Direct Evidence: marker/mechanism CTD PMID:22561520 NCBI chr 7:152,134,925...152,436,003
Ensembl chr 7:152,134,922...152,436,644 		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...52,255,853
Ensembl chr12:52,232,520...52,252,186 		JBrowse link
G LOC126859963 BRD4-independent group 4 enhancer GRCh37_chr7:22766269-22767468 IAGP ClinVar Annotator: match by term: Cholangiocarcinoma ClinVar PMID:9769329 PMID:10720087 PMID:11001912 PMID:11889177 PMID:12519862 More... NCBI chr 7:22,726,650...22,727,849 JBrowse link
G MDM2 MDM2 proto-oncogene disease_progression IEP protein:increased expression:intrahepatic bile duct (human) RGD PMID:15619210 RGD:2317417 NCBI chr12:68,808,172...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...116,798,377
Ensembl chr 7:116,672,196...116,798,377 		JBrowse link
G MFSD4A major facilitator superfamily domain containing 4A disease_progression IEP mRNA:altered expression:liver (human) RGD PMID:31687280 RGD:152998978 NCBI chr 1:205,569,014...205,602,918
Ensembl chr 1:205,568,885...205,602,918 		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 MIR23B microRNA 23b EXP CTD Direct Evidence: marker/mechanism CTD PMID:34418280 NCBI chr 9:95,085,208...95,085,304
Ensembl chr 9:95,085,208...95,085,304 		JBrowse link
G MIR494 microRNA 494 severity
exacerbates 		IEP
IMP 		RGD PMID:30314946 PMID:30314946 RGD:156420141, RGD:156420141 NCBI chr14:101,029,634...101,029,714
Ensembl chr14:101,029,634...101,029,714 		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...11,805,964
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 chr19:8,848,844...9,065,751
Ensembl chr19:8,848,844...9,010,390 		JBrowse link
G MUC2 mucin 2, oligomeric mucus/gel-forming IEP mRNA:decreased expression:bile duct RGD PMID:11680592 RGD:2324948 NCBI chr11:1,074,874...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 (gene/pseudogene) IEP protein:increased expression: : RGD PMID:10209489 RGD:2325167 NCBI chr11:1,012,823...1,036,718
Ensembl chr11:1,012,823...1,036,718 		JBrowse link
G NAT2 N-acetyltransferase 2 IAGP DNA:polymorphisms (human) RGD PMID:15901993 RGD:2317172 NCBI chr 8:18,386,301...18,401,218
Ensembl chr 8:18,391,282...18,401,218 		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 chr11:112,961,275...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...9,783,108
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 chr17:47,807,372...47,821,794
Ensembl chr17:47,807,372...47,821,803 		JBrowse link
G PACERR PTGS2 antisense NFKB1 complex-mediated expression regulator RNA IAGP ClinVar Annotator: match by term: Cholangiocarcinoma ClinVar NCBI chr 1:186,680,654...186,681,446
Ensembl chr 1:186,680,108...186,683,165 		JBrowse link
G PANX2 pannexin 2 disease_progression IEP mRNA:altered expression:liver (human) RGD PMID:31687280 RGD:152998978 NCBI chr22:50,170,731...50,180,295
Ensembl chr22:50,170,731...50,180,295 		JBrowse link
G PAWR pro-apoptotic WT1 regulator IEP mRNA,protein:decreased expression:cholangiocyte: RGD PMID:20724592 RGD:9835357 NCBI chr12:79,584,879...79,690,964
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 PES1 pescadillo ribosomal biogenesis factor 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:34845814 NCBI chr22:30,576,625...30,607,013
Ensembl chr22:30,576,625...30,607,083 		JBrowse link
G PIR pirin disease_progression IEP mRNA:altered expression:liver (human) RGD PMID:31687280 RGD:152998978 NCBI chr  X:15,384,799...15,493,333
Ensembl chr  X:15,384,799...15,493,564 		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 7:44,796,681...44,803,117
Ensembl chr 7:44,796,680...44,824,564 		JBrowse link
G PPP3CA protein phosphatase 3 catalytic subunit alpha disease_progression IEP mRNA:altered expression:liver (human) RGD PMID:31687280 RGD:152998978 NCBI chr 4:101,023,418...101,347,526
Ensembl chr 4:101,023,409...101,348,278 		JBrowse link
G PREX2 phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 2 sexual_dimorphism IAGP DNA:substitutions, insertion/deletions: (human) RGD PMID:28000796 RGD:151665188 NCBI chr 8:67,952,046...68,237,032
Ensembl chr 8:67,952,046...68,237,032 		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 PRRG4 proline rich and Gla domain 4 disease_progression IEP mRNA:altered expression:liver (human) RGD PMID:31687280 RGD:152998978 NCBI chr11:32,829,789...32,858,120
Ensembl chr11:32,829,927...32,858,120 		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 PRSS56 serine protease 56 disease_progression IEP mRNA:altered expression:liver (human) RGD PMID:31687280 RGD:152998978 NCBI chr 2:232,520,388...232,525,716
Ensembl chr 2:232,520,388...232,525,716 		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 chr10:87,862,638...87,971,930 		JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 IEP
IAGP
EXP 		protein:increased expression:bile duct
ClinVar Annotator: match by term: Cholangiocarcinoma
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD
RGD		 PMID:16818635 PMID:19621664 RGD:2317180 NCBI chr 1:186,671,791...186,680,423
Ensembl chr 1:186,671,791...186,680,922 		JBrowse link
G RASSF8 Ras association domain family member 8 disease_progression IEP mRNA:altered expression:liver (human) RGD PMID:31687280 RGD:152998978 NCBI chr12:25,958,232...26,079,889
Ensembl chr12:25,958,232...26,079,892 		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 RNF39 ring finger protein 39 disease_progression IEP mRNA:altered expression:liver (human) RGD PMID:31687280 RGD:152998978 NCBI chr 6:30,070,270...30,075,769
Ensembl chr 6:30,070,266...30,075,849 		JBrowse link
G RNF43 ring finger protein 43 exacerbates EXP
IAGP 		CTD Direct Evidence: marker/mechanism
associated with opisthorchiasis;DNA:SNPs:multiple: (human) 		CTD
RGD		 PMID:22561520 PMID:22561520 RGD:151361227 NCBI chr17:58,352,500...58,417,534
Ensembl chr17:58,353,676...58,417,595 		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...24,965,138
Ensembl chr 1:24,899,511...24,965,121 		JBrowse link
G SLC4A4 solute carrier family 4 member 4 disease_progression IEP mRNA:altered expression:liver (human) RGD PMID:31687280 RGD:152998978 NCBI chr 4:71,062,660...71,572,083
Ensembl chr 4:71,062,667...71,572,087 		JBrowse link
G SLC5A5 solute carrier family 5 member 5 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17408651 NCBI chr19:17,871,945...17,895,174
Ensembl chr19:17,871,945...17,895,174 		JBrowse link
G SLC7A5 solute carrier family 7 member 5 disease_progression
treatment 		IEP
IMP 		RGD PMID:25475870 PMID:28347255 PMID:24131658 RGD:151361214, RGD:151361294, RGD:151361287 NCBI chr16:87,830,023...87,869,507
Ensembl chr16:87,830,016...87,869,507 		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 chr18:51,028,528...51,085,045 		JBrowse link
G SOCS3 suppressor of cytokine signaling 3 severity IEP protein:decreased expression:bile duct (human) RGD PMID:26485275 RGD:11250478 NCBI chr17:78,356,778...78,360,925
Ensembl chr17:78,356,778...78,360,077 		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 SOX2 SRY-box transcription factor 2 disease_progression IEP mRNA:altered expression:liver (human) RGD PMID:31687280 RGD:152998978 NCBI chr 3:181,711,925...181,714,436
Ensembl chr 3:181,711,925...181,714,436 		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 3:30,606,356...30,694,142
Ensembl chr 3:30,606,478...30,694,249 		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...115,118,157
Ensembl chr 9:115,019,575...115,118,207 		JBrowse link
G TNFAIP3 TNF alpha induced protein 3 severity IEP protein:increased expression:bile duct (human) RGD PMID:26485275 RGD:11250478 NCBI chr 6:137,866,349...137,883,312
Ensembl chr 6:137,867,214...137,883,314 		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...7,687,546 		JBrowse link
G TTR transthyretin IEP protein:decreased expression:blood serum (human) RGD PMID:18275060 RGD:151660506 NCBI chr18:31,591,877...31,598,821
Ensembl chr18:31,557,009...31,598,833 		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
G VEGFA vascular endothelial growth factor A IAGP ClinVar Annotator: match by term: Cholangiocarcinoma ClinVar PMID:18550579 NCBI chr 6:43,770,211...43,786,487
Ensembl chr 6:43,770,184...43,786,487 		JBrowse link
G WDHD1 WD repeat and HMG-box DNA binding protein 1 ameliorates IMP RGD PMID:30314946 RGD:156420141 NCBI chr14:54,938,949...55,027,099
Ensembl chr14:54,938,949...55,027,105 		JBrowse link
G WNT9A Wnt family member 9A disease_progression IEP mRNA:altered expression:liver (human) RGD PMID:31687280 RGD:152998978 NCBI chr 1:227,918,656...227,947,932
Ensembl chr 1:227,918,656...227,947,932 		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 IAGP RGD PMID:25536104 RGD:150340631 NCBI chr 3:52,401,008...52,410,008
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
G RAC1 Rac family small GTPase 1 IEP protein:increased expression:mucosa (human) RGD PMID:21537609 RGD:153350126 NCBI chr 7:6,374,527...6,403,967
Ensembl chr 7:6,374,527...6,403,967 		JBrowse link
G SLC7A5 solute carrier family 7 member 5 disease_progression IEP RGD PMID:24890221 RGD:151361210 NCBI chr16:87,830,023...87,869,507
Ensembl chr16:87,830,016...87,869,507 		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 IAGP ClinVar Annotator: match by term: Extrahepatic bile duct cancer ClinVar PMID:25741868 NCBI chr16:2,088,708...2,135,898
Ensembl chr16:2,088,708...2,135,898 		JBrowse link
G POLD1 DNA polymerase delta 1, catalytic subunit IAGP ClinVar Annotator: match by term: Extrahepatic bile duct cancer ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr19:50,384,323...50,418,018
Ensembl chr19:50,384,204...50,418,018 		JBrowse link
G XPO1 exportin 1 disease_progression IEP protein:increased expression:extrahepatic bile duct (human) RGD PMID:27279267 RGD:151665800 NCBI chr 2:61,477,849...61,538,612
Ensembl chr 2:61,476,032...61,538,741 		JBrowse link
gallbladder adenocarcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACE angiotensin I converting enzyme IAGP DNA:polymorphism: :rs4646994 (human) RGD PMID:20438364 RGD:2325207 NCBI chr17:63,477,061...63,498,373
Ensembl chr17:63,477,061...63,498,380 		JBrowse link
G CDK1 cyclin dependent kinase 1 IEP protein:increased expression:gallbladder RGD PMID:15017593 RGD:2722465 NCBI chr10:60,778,331...60,794,852
Ensembl chr10:60,778,331...60,794,852 		JBrowse link
G DDR2 discoidin domain receptor tyrosine kinase 2 disease_progression IDA RGD PMID:29043607 RGD:150429712 NCBI chr 1:162,630,863...162,787,405
Ensembl chr 1:162,631,373...162,787,405 		JBrowse link
G IFITM1 interferon induced transmembrane protein 1 disease_progression IDA RGD PMID:29043607 RGD:150429712 NCBI chr11:314,040...315,272
Ensembl chr11:310,041...315,272 		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 IAGP DNA:SNP::rs11954856(human) RGD PMID:26715268 RGD:151356500 NCBI chr 5:112,707,498...112,846,239
Ensembl chr 5:112,707,518...112,846,239 		JBrowse link
G APOB apolipoprotein B susceptibility IAGP DNA:SNP: :rs693 (human) RGD PMID:17696941 PMID:20082485 RGD:2325764, RGD:2325761 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 AXIN2 axin 2 disease_progression IAGP DNA:SNP::s4791171(human) RGD PMID:26715268 RGD:151356500 NCBI chr17:65,528,563...65,561,648
Ensembl chr17:65,528,563...65,561,648 		JBrowse link
G BRAF B-Raf proto-oncogene, serine/threonine kinase IAGP ClinVar Annotator: match by term: Gallbladder cancer ClinVar NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929 		JBrowse link
G BUB1B BUB1 mitotic checkpoint serine/threonine kinase B IEP mRNA:increased expression:gallbladder RGD PMID:18497548 RGD:2324871 NCBI chr15:40,161,069...40,221,123
Ensembl chr15:40,161,023...40,221,123 		JBrowse link
G CALR calreticulin exacerbates IEP mRNA, protein:increased expression:gall bladder (human) RGD PMID:33591948 RGD:150521682 NCBI chr19:12,938,609...12,944,489
Ensembl chr19:12,938,578...12,944,489 		JBrowse link
G CCR5 C-C motif chemokine receptor 5 onset IAGP DNA:frameshift mutation:cds:p.S185_T195del rs333 (human) RGD PMID:18405329 RGD:2317570 NCBI chr 3:46,370,142...46,376,206
Ensembl chr 3:46,370,946...46,376,206 		JBrowse link
G CTNNB1 catenin beta 1 IAGP ClinVar Annotator: match by term: Gallbladder cancer ClinVar PMID:10435629 PMID:26822237 NCBI chr 3:41,199,505...41,240,443
Ensembl chr 3:41,194,741...41,260,096 		JBrowse link
G CYP17A1 cytochrome P450 family 17 subfamily A member 1 susceptibility IAGP DNA:transition:5' utr:-34T>C rs743572 (human) RGD PMID:16381022 RGD:2317619 NCBI chr10:102,830,531...102,837,413
Ensembl chr10:102,830,531...102,837,472 		JBrowse link
G CYP1A1 cytochrome P450 family 1 subfamily A member 1 IAGP DNA:transition: :6235T>C (human)
DNA:polymorphism: :p.I462V (human) 		RGD PMID:18287863 PMID:18990008 RGD:2317212, RGD:2317211 NCBI chr15:74,719,542...74,725,528
Ensembl chr15:74,719,542...74,725,536 		JBrowse link
G DPYD dihydropyrimidine dehydrogenase disease_progression IEP RGD PMID:16619549 RGD:2317631 NCBI chr 1:97,077,743...97,921,059
Ensembl chr 1:97,077,743...97,995,000 		JBrowse link
G EGF epidermal growth factor susceptibility IAGP
IEP 		DNA:SNP: :+61A>G (rs4444903)(human) RGD PMID:18571008 PMID:8093356 RGD:2317641, RGD:2317646 NCBI chr 4:109,912,883...110,013,766
Ensembl chr 4:109,912,883...110,013,766 		JBrowse link
G GLI1 GLI family zinc finger 1 disease_progression IAGP DNA:SNP::rs2228226(human) RGD PMID:26715268 RGD:151356500 NCBI chr12:57,459,785...57,472,268
Ensembl chr12:57,459,785...57,472,268 		JBrowse link
G GSTM1 glutathione S-transferase mu 1 IEP RGD PMID:26925680 RGD:14700928 NCBI chr 1:109,687,817...109,693,745
Ensembl chr 1:109,687,814...109,709,039 		JBrowse link
G JUNB JunB proto-oncogene, AP-1 transcription factor subunit exacerbates IEP protein:increased expression:gall bladder (human) RGD PMID:26318166 RGD:11528126 NCBI chr19:12,791,486...12,793,315
Ensembl chr19:12,791,486...12,793,315 		JBrowse link
G KEAP1 kelch like ECH associated protein 1 IAGP DNA:missense mutations, frameshift mutations:cds:multiple (human) RGD PMID:18692501 RGD:6893398 NCBI chr19:10,486,125...10,503,356
Ensembl chr19:10,486,125...10,503,558 		JBrowse link
G KRAS KRAS proto-oncogene, GTPase IAGP ClinVar Annotator: match by term: Gallbladder cancer ClinVar PMID:6320174 PMID:11745231 PMID:15696205 PMID:16051643 PMID:17704260 More... NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936 		JBrowse link
G LOC126806658 BRD4-independent group 4 enhancer GRCh37_chr3:41265899-41267098 IAGP ClinVar Annotator: match by term: Gallbladder cancer ClinVar PMID:10435629 PMID:26822237 NCBI chr 3:41,224,408...41,225,607 JBrowse link
G LRP1B LDL receptor related protein 1B ameliorates IAGP DNA:mutations:multiple: (human) RGD PMID:32898339 RGD:150429787 NCBI chr 2:140,231,423...142,131,016
Ensembl chr 2:140,231,423...142,131,016 		JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha IAGP ClinVar Annotator: match by term: Gallbladder cancer ClinVar PMID:15520168 PMID:15608678 PMID:15930273 PMID:17673550 PMID:21078999 More... NCBI chr 3:179,148,126...179,240,093
Ensembl chr 3:179,148,114...179,240,093 		JBrowse link
G RBP4 retinol binding protein 4 disease_progression IEP associated with type 2 diabetes mellitus; protein:decreased expression:blood serum (human) RGD PMID:37273108 RGD:329849105 NCBI chr10:93,591,694...93,601,744
Ensembl chr10:93,591,687...93,601,744 		JBrowse link
G RICTOR RPTOR independent companion of MTOR complex 2 IAGP DNA:CNV, amplification:exon (human) RGD PMID:24508317 RGD:152995522 NCBI chr 5:38,937,920...39,074,399
Ensembl chr 5:38,937,920...39,074,402 		JBrowse link
G SMAD4 SMAD family member 4 IAGP ClinVar Annotator: match by term: Gallbladder cancer ClinVar PMID:10479724 PMID:10764709 PMID:16152648 PMID:16436638 PMID:21465659 More... NCBI chr18:51,030,213...51,085,042
Ensembl chr18:51,028,528...51,085,045 		JBrowse link
G TP53 tumor protein p53 IAGP ClinVar Annotator: match by term: Gallbladder cancer ClinVar PMID:1631137 PMID:1978757 PMID:7478555 PMID:7791795 PMID:8023157 More... NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,546 		JBrowse link
G XRCC1 X-ray repair cross complementing 1 susceptibility IAGP DNA:polymorphisms: :p.R194W, p.R399Q (human) RGD PMID:19266243 RGD:2317128 NCBI chr19:43,543,311...43,575,527
Ensembl chr19:43,543,311...43,580,473 		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 IAGP RGD PMID:7795450 RGD:2317512 NCBI chr 9:133,250,401...133,275,201
Ensembl chr 9:133,233,278...133,276,024 		JBrowse link
G ACTR3 actin related protein 3 severity IEP Squamous Cell/Adenosquamous Carcinoma and Adenocarcinoma;protein:increased expression:gall bladder (human) RGD PMID:23320827 RGD:11571623 NCBI chr 2:113,889,934...113,962,596
Ensembl chr 2:113,890,063...113,962,596 		JBrowse link
G ANTXR1 ANTXR cell adhesion molecule 1 severity IEP RGD PMID:21545221 RGD:9684943 NCBI chr 2:69,013,144...69,249,327
Ensembl chr 2:69,013,176...69,249,327 		JBrowse link
G BIRC3 baculoviral IAP repeat containing 3 exacerbates IEP mRNA:increased expression:gall bladder (human) RGD PMID:28295868 RGD:153297817 NCBI chr11:102,317,484...102,339,403
Ensembl chr11:102,317,484...102,339,403 		JBrowse link
G CFL1 cofilin 1 severity IEP Squamous Cell/Adenosquamous Carcinoma and Adenocarcinoma;protein:increased expression:gall bladder (human) RGD PMID:23320827 RGD:11571623 NCBI chr11:65,854,673...65,858,180
Ensembl chr11:65,823,022...65,862,026 		JBrowse link
G CLPTM1L CLPTM1 like susceptibility IAGP DNA:SNP, haplotype: :rs401681(human) RGD PMID:29450669 RGD:150530629 NCBI chr 5:1,317,752...1,345,099
Ensembl chr 5:1,317,752...1,345,099 		JBrowse link
G GPX3 glutathione peroxidase 3 severity IEP protein:decreased expression:gallbladder (human) RGD PMID:24167362 RGD:151665515 NCBI chr 5:151,020,591...151,028,988
Ensembl chr 5:151,020,591...151,028,988 		JBrowse link
G IL10 interleukin 10 susceptibility IAGP associated with Cholelithiasis RGD PMID:19065724 RGD:2317654 NCBI chr 1:206,767,602...206,772,494
Ensembl chr 1:206,767,602...206,774,541 		JBrowse link
G MIR155 microRNA 155 disease_progression IEP miRNA:increased expression:gall bladder RGD PMID:26885061 RGD:21079444 NCBI chr21:25,573,980...25,574,044
Ensembl chr21:25,573,980...25,574,044 		JBrowse link
G MTUS1 microtubule associated scaffold protein 1 disease_progression IEP RGD PMID:31882471 RGD:25330344 NCBI chr 8:17,643,802...17,801,521
Ensembl chr 8:17,643,795...17,801,094 		JBrowse link
G PTCH1 patched 1 disease_progression IEP RGD PMID:22407314 RGD:150523794 NCBI chr 9:95,442,980...95,516,971
Ensembl chr 9:95,442,980...95,517,057 		JBrowse link
G RAC1 Rac family small GTPase 1 exacerbates IEP protein:increased expression:gallbladder (human) RGD PMID:21853342 RGD:155230819 NCBI chr 7:6,374,527...6,403,967
Ensembl chr 7:6,374,527...6,403,967 		JBrowse link
G TERT telomerase reverse transcriptase susceptibility IAGP DNA:SNP, haplotype: :rs2736100(human) RGD PMID:29450669 RGD:150530629 NCBI chr 5:1,253,167...1,295,068
Ensembl chr 5:1,253,147...1,295,068 		JBrowse link
G TGFA transforming growth factor alpha IEP RGD PMID:9542514 RGD:2317470 NCBI chr 2:70,447,284...70,553,826
Ensembl chr 2:70,447,284...70,554,193 		JBrowse link
G TJP1 tight junction protein 1 IEP protein:decreased expression:gallbladder RGD PMID:19184677 RGD:2325030 NCBI chr15:29,699,367...29,969,049
Ensembl chr15:29,699,367...29,968,915 		JBrowse link
G TYMP thymidine phosphorylase disease_progression IEP RGD PMID:18946757 RGD:2325157 NCBI chr22:50,525,752...50,530,085
Ensembl chr22:50,525,752...50,530,032 		JBrowse link
G UBR5 ubiquitin protein ligase E3 component n-recognin 5 ameliorates IMP human cell line in a mouse model RGD PMID:30775814 RGD:151665192 NCBI chr 8:102,252,273...102,412,700
Ensembl chr 8:102,252,273...102,412,759 		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:26467025 PMID:26530882 More... NCBI chr 5:112,707,498...112,846,239
Ensembl chr 5:112,707,518...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 deubiquitinase 1 disease_progression IEP RGD PMID:27864835 RGD:150340628 NCBI chr 3:52,401,008...52,410,008
Ensembl chr 3:52,401,008...52,410,008 		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 chr10:88,964,050...89,017,059
Ensembl chr10:88,953,813...89,029,605 		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:49,250,438...49,264,710
Ensembl chr  X:49,250,438...49,264,800 		JBrowse link
G HSP90AA1 heat shock protein 90 alpha family class A member 1 disease_progression IEP protein:increased expression:liver (human) RGD PMID:24796583 RGD:152177907 NCBI chr14:102,080,742...102,139,749
Ensembl chr14:102,080,742...102,139,699 		JBrowse link
G HSP90AB1 heat shock protein 90 alpha family class B member 1 disease_progression IEP protein:increased expression:liver (human) RGD PMID:24796583 RGD:152177907 NCBI chr 6:44,246,194...44,253,883
Ensembl chr 6:44,246,166...44,253,888 		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 KDM5C lysine demethylase 5C exacerbates HEP protein:decreased expression:bile duct (human) RGD PMID:32714863 RGD:151361175 NCBI chr  X:53,176,277...53,225,207
Ensembl chr  X:53,176,277...53,225,422 		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...142,131,016
Ensembl chr 2:140,231,423...142,131,016 		JBrowse link
G MAGI1 membrane associated guanylate kinase, WW and PDZ domain containing 1 disease_progression HEP protein:increased expression:intrahepatic bile duct (human) RGD PMID:30377796 RGD:152998946 NCBI chr 3:65,353,526...66,038,918
Ensembl chr 3:65,353,525...66,038,918 		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 disease_progression IEP
HEP 		protein:increased expression:intrahepatic bile duct (human) RGD PMID:27864835 PMID:30377796 RGD:150340628, RGD:152998946 NCBI chr 3:52,545,367...52,685,913
Ensembl chr 3:52,545,352...52,685,917 		JBrowse link
G PTEN phosphatase and tensin homolog disease_progression IEP protein:decreased expression:liver (human) RGD PMID:24796583 RGD:152177907 NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930 		JBrowse link
G RNF43 ring finger protein 43 exacerbates IEP mRNA, protein:decreased expression:liver, bile duct epithelium (human) RGD PMID:26980022 RGD:151361125 NCBI chr17:58,352,500...58,417,534
Ensembl chr17:58,353,676...58,417,595 		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...35,049,302
Ensembl chr21:34,787,801...36,004,667 		JBrowse link
G S100B S100 calcium binding protein B disease_progression HEP protein:increased expression:intrahepatic bile duct (human) RGD PMID:30377796 RGD:152998946 NCBI chr21:46,598,604...46,605,082
Ensembl chr21:46,598,604...46,605,208 		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 chr18:51,028,528...51,085,045 		JBrowse link
G TEP1 telomerase associated protein 1 IEP mRNA:increased expression:hepatocyte,biliary epithelium. RGD PMID:10498642 RGD:152977753 NCBI chr14:20,365,667...20,413,501
Ensembl chr14:20,365,667...20,413,501 		JBrowse link
G TERC telomerase RNA component IEP RNA:increased expression:hepatocyte,biliary epithelium. RGD PMID:10498642 RGD:152977753 NCBI chr 3:169,764,610...169,765,060
Ensembl chr 3:169,764,610...169,765,047
Ensembl chr 3:169,764,610...169,765,047 		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 5:112,707,518...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...152,436,003
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:substitutions, insertion/deletions: (human) RGD PMID:33387086 RGD:126848756 NCBI chr 8:67,952,046...68,237,032
Ensembl chr 8:67,952,046...68,237,032 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 151455
    disease of cellular proliferation 29501
      cancer 24147
        organ system cancer 23252
          gastrointestinal system cancer 3917
            hepatobiliary system cancer 1185
              biliary tract cancer 204
                bile duct cancer + 163
                gallbladder cancer + 54
Path 2
Term Annotations click to browse term
  disease 151455
    disease of anatomical entity 138485
      gastrointestinal system disease 21328
        Digestive System Neoplasms 5414
          Gastrointestinal Neoplasms 5019
            gastrointestinal system cancer 3917
              hepatobiliary system cancer 1185
                biliary tract cancer 204
                  bile duct cancer + 163
                  gallbladder cancer + 54
paths to the root