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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:bile duct cancer
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Accession:DOID:4606 term browser browse the term
Definition:A biliary tract cancer that is located_in the bile duct. (DO)
Synonyms:exact_synonym: Ca extrahepatic bile ducts;   bile duct cancers;   bile duct tumor;   cancer of bile duct;   cancer of the bile duct;   malignant neoplasm of the extrahepatic bile duct
 xref: ICD10CM:C24.0;   ICD9CM:156.1;   NCI:C2898;   NCI:C7483
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
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 chr2A:20,986,464...21,029,004
Ensembl chr2A:21,100,356...21,145,129 		JBrowse link
G APOE apolipoprotein E susceptibility ISO DNA:SNP:intron:rs440446 (human) RGD PMID:18296645 RGD:2317550 NCBI chr19:41,853,669...41,857,252
Ensembl chr19:50,459,906...50,463,490 		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 chr11:103,109,979...103,256,405
Ensembl chr11:106,584,228...106,727,041 		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 chr 3:36,899,828...36,957,076
Ensembl chr 3:37,189,439...37,245,801 		JBrowse link
G MSH2 mutS homolog 2 ISO ClinVar Annotator: match by term: Bile duct cancer ClinVar PMID:33357406 NCBI chr2A:47,524,468...47,602,376
Ensembl chr2A:48,447,207...48,554,461 		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 chr16:14,470,367...14,507,841
Ensembl chr16:23,855,535...23,892,117 		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 chr16:604,366...605,560 JBrowse link
G POLD1 DNA polymerase delta 1, catalytic subunit ISO ClinVar Annotator: match by term: Bile duct cancer ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr19:47,347,919...47,381,772
Ensembl chr19:56,251,356...56,297,611 		JBrowse link
G STK11 serine/threonine kinase 11 ISO ClinVar Annotator: match by term: Bile duct cancer ClinVar PMID:25741868 PMID:28492532 Ensembl chr19:1,188,537...1,210,677 JBrowse link
G TJP1 tight junction protein 1 ISO protein:decreased expression:bile duct RGD PMID:19184677 RGD:2325030 NCBI chr15:981,198...1,249,292
Ensembl chr15:26,344,878...26,598,878 		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 chr16:68,512,407...68,552,763 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 Ensembl chr16:777,146...783,449 JBrowse link
G SLC7A5 solute carrier family 7 member 5 disease_progression ISO RGD PMID:24890221 RGD:151361210 NCBI chr16:68,512,407...68,552,763 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 chr10:96,385,534...96,458,571
Ensembl chr10:99,889,160...99,947,270 		JBrowse link
G ADRB2 adrenoceptor beta 2 ISO protein:decreased expression:liver RGD PMID:16292515 RGD:2325640 NCBI chr 5:144,259,756...144,398,421
Ensembl chr 5:150,267,554...150,315,892 		JBrowse link
G ALB albumin disease_progression ISO RGD PMID:10776430 PMID:17545000 PMID:20431764 RGD:2325679 RGD:2325680 RGD:2325682 NCBI chr 4:50,773,244...50,790,474
Ensembl chr 4:56,605,322...56,622,418 		JBrowse link
G ALOX5 arachidonate 5-lipoxygenase ISO protein:increased expression:bile duct RGD PMID:18507031 RGD:2317521 NCBI chr10:42,461,398...42,531,576
Ensembl chr10:45,639,946...45,710,016 		JBrowse link
G ANXA2 annexin A2 disease_progression ISO RGD PMID:20493868 RGD:2325728 NCBI chr15:39,322,303...39,371,565
Ensembl chr15:57,625,425...57,674,250 		JBrowse link
G APC APC regulator of WNT signaling pathway ISO DNA:hypermethylation:promoter
DNA:loss of heterozygosity		 RGD PMID:10212000 PMID:15467712 RGD:2317198 RGD:2317205 NCBI chr 5:108,070,697...108,208,273
Ensembl chr 5:113,904,352...114,009,709 		JBrowse link
G APOA1 apolipoprotein A1 ISO protein:decreased expression:serum RGD PMID:19486127 RGD:2325756 NCBI chr11:111,673,539...111,675,428
Ensembl chr11:115,606,136...115,608,122 		JBrowse link
G ARID1A AT-rich interaction domain 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:24185509 NCBI chr 1:25,960,868...26,047,057
Ensembl chr 1:27,018,616...27,103,239 		JBrowse link
G ASPH aspartate beta-hydroxylase ISO RGD PMID:21898484 RGD:6902945 NCBI chr 8:57,921,580...58,134,778
Ensembl chr 8:59,629,707...59,843,658 		JBrowse link
G ATG101 autophagy related 101 disease_progression ISO RGD PMID:35592424 RGD:153350091 NCBI chr12:36,685,897...36,693,613
Ensembl chr12:37,462,533...37,470,062 		JBrowse link
G BAP1 BRCA1 associated protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24185509 PMID:25231345 NCBI chr 3:52,344,067...52,352,187
Ensembl chr 3:53,573,785...53,581,943 		JBrowse link
G BIRC6 baculoviral IAP repeat containing 6 ameliorates ISO mRNA:increased expression:bile duct (human) RGD PMID:31964418 RGD:153344516 NCBI chr2A:32,373,479...32,633,088
Ensembl chr2A:33,084,929...33,343,245 		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 chr 7:132,651,908...132,855,422
Ensembl chr 7:145,138,510...145,327,115 		JBrowse link
G CDKN2A cyclin dependent kinase inhibitor 2A onset ISO protein:decreased expression:liver RGD PMID:15619210 RGD:2317417 NCBI chr 9:21,803,862...21,831,322 JBrowse link
G CXCL8 C-X-C motif chemokine ligand 8 ISO ClinVar Annotator: match by term: Cholangiocarcinoma ClinVar PMID:18550579 NCBI chr 4:50,452,857...50,456,015
Ensembl chr 4:56,286,708...56,288,083 		JBrowse link
G CXCR1 C-X-C motif chemokine receptor 1 ISO ClinVar Annotator: match by term: Cholangiocarcinoma ClinVar PMID:18550579 PMID:25741868 NCBI chr2B:105,429,576...105,433,243
Ensembl chr2B:224,028,838...224,029,890 		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 chr20:50,500,103...50,520,487
Ensembl chr20:51,721,685...51,742,716 		JBrowse link
G EGF epidermal growth factor ISO ClinVar Annotator: match by term: Cholangiocarcinoma ClinVar PMID:18550579 PMID:28492532 NCBI chr 4:102,410,724...102,509,691
Ensembl chr 4:112,977,565...113,076,460 		JBrowse link
G EGFR epidermal growth factor receptor ISO ClinVar Annotator: match by term: Cholangiocarcinoma ClinVar PMID:18550579 PMID:24728327 PMID:25741868 PMID:28492532 NCBI chr 7:55,614,042...55,807,285
Ensembl chr 7:56,046,296...56,111,615 		JBrowse link
G EPO erythropoietin ISO mRNA, protein:increased expression:liver RGD PMID:23052842 RGD:10400912 NCBI chr 7:92,747,671...92,750,886
Ensembl chr 7:106,148,062...106,150,974 		JBrowse link
G EPOR erythropoietin receptor ISO mRNA, protein:increased expression:liver RGD PMID:23052842 RGD:10400912 NCBI chr19:10,925,148...10,931,955
Ensembl chr19:11,635,248...11,642,383 		JBrowse link
G ERBB2 erb-b2 receptor tyrosine kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16818635 NCBI chr17:17,560,337...17,600,808
Ensembl chr17:17,777,434...17,805,862 		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 chr 7:140,536,962...140,613,104
Ensembl chr 7:153,017,590...153,059,726 		JBrowse link
G FASLG Fas ligand ISO RGD PMID:11029528 RGD:2317746 NCBI chr 1:148,159,826...148,167,785
Ensembl chr 1:151,868,430...151,876,281 		JBrowse link
G FGF2 fibroblast growth factor 2 ISO protein:increased expression:bile RGD PMID:11478488 RGD:2317765 NCBI chr 4:115,005,136...115,076,369
Ensembl chr 4:126,149,813...126,214,942 		JBrowse link
G FGFR2 fibroblast growth factor receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26258846 NCBI chr10:118,055,854...118,175,440
Ensembl chr10:121,469,735...121,588,815 		JBrowse link
G FSCN1 fascin actin-bundling protein 1 disease_progression ISO protein:increased expression:bile ducts RGD PMID:19721413 RGD:2317780 NCBI chr 7:5,848,902...5,862,756 JBrowse link
G GNAS GNAS complex locus disease_progression ISO CTD Direct Evidence: marker/mechanism
DNA:polymorphism:393T>C (human)		 CTD
RGD		 PMID:17356712 PMID:22561520 RGD:1601377 NCBI chr20:55,190,607...55,262,245 JBrowse link
G GSTM1 glutathione S-transferase mu 1 ISO RGD PMID:24049014 RGD:14700980 Ensembl chr 1:127,979,238...128,010,411 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 chr11:62,942,756...62,945,701
Ensembl chr11:66,253,421...66,256,472 		JBrowse link
G HDAC6 histone deacetylase 6 ISO protein:increased expression:liver: RGD PMID:23370327 RGD:9681560 NCBI chr  X:41,099,539...41,122,650
Ensembl chr  X:48,960,430...48,982,642 		JBrowse link
G HGF hepatocyte growth factor ISO mRNA, protein:increased expression: :
protein:increased expression:serum		 RGD PMID:10827151 PMID:16974053 RGD:2317909 RGD:2317925 NCBI chr 7:73,667,618...73,738,960
Ensembl chr 7:87,327,798...87,397,811 		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 chr14:42,295,691...42,348,478
Ensembl chr14:60,552,374...60,604,885 		JBrowse link
G IDH1 isocitrate dehydrogenase (NADP(+)) 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24185509 NCBI chr2B:95,475,320...95,494,286
Ensembl chr2B:213,599,036...213,617,175 		JBrowse link
G IDH2 isocitrate dehydrogenase (NADP(+)) 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24185509 NCBI chr15:68,771,050...68,790,523
Ensembl chr15:87,972,889...87,991,276 		JBrowse link
G IL10 interleukin 10 ISO ClinVar Annotator: match by term: Cholangiocarcinoma ClinVar PMID:11121048 PMID:14657422 PMID:14657427 PMID:18550579 PMID:28492532 NCBI chr 1:182,369,234...182,374,207
Ensembl chr 1:186,648,289...186,653,371 		JBrowse link
G IL19 interleukin 19 ISO ClinVar Annotator: match by term: Cholangiocarcinoma ClinVar PMID:11121048 PMID:14657422 PMID:14657427 PMID:18550579 PMID:28492532 NCBI chr 1:182,372,339...182,446,147
Ensembl chr 1:186,651,640...186,724,748 		JBrowse link
G IL1B interleukin 1 beta ISO ClinVar Annotator: match by term: Cholangiocarcinoma ClinVar PMID:18550579 PMID:25741868 NCBI chr2A:89,216,313...89,223,358
Ensembl chr2A:113,846,306...113,853,424 		JBrowse link
G IL1R2 interleukin 1 receptor type 2 disease_progression ISO mRNA:altered expression:liver (human) RGD PMID:31687280 RGD:152998978 Ensembl chr2A:103,042,328...103,078,190 JBrowse link
G IL4R interleukin 4 receptor ISO mRNA:increased expression:bile duct RGD PMID:18798553 RGD:2317263 Ensembl chr16:27,642,702...27,737,445 JBrowse link
G IL6 interleukin 6 ISO ClinVar Annotator: match by term: Cholangiocarcinoma ClinVar PMID:9769329 PMID:10720087 PMID:11001912 PMID:11889177 PMID:12519862 More... NCBI chr 7:23,415,922...23,420,767 JBrowse link
G INS insulin disease_progression ISO mRNA:altered expression:liver (human) RGD PMID:31687280 RGD:152998978 NCBI chr11:2,200,785...2,202,579
Ensembl chr11:2,218,117...2,231,666 		JBrowse link
G KCND2 potassium voltage-gated channel subfamily D member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:34418280 NCBI chr 7:112,277,018...112,751,896
Ensembl chr 7:124,966,816...125,437,430 		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 4:69,199,543...69,282,323
Ensembl chr 4:75,761,946...75,844,473 		JBrowse link
G KMT2C lysine methyltransferase 2C ISO CTD Direct Evidence: marker/mechanism CTD PMID:22561520 NCBI chr 7:143,714,716...144,016,188
Ensembl chr 7:155,862,610...156,081,043 		JBrowse link
G KRAS KRAS proto-oncogene, GTPase ISO CTD Direct Evidence: marker/mechanism CTD PMID:8968066 PMID:22561520 NCBI chr12:61,062,689...61,108,524
Ensembl chr12:63,679,293...63,724,335 		JBrowse link
G KRT7 keratin 7 ISO RGD PMID:18393293 RGD:2317308 NCBI chr12:36,514,021...36,529,721
Ensembl chr12:37,291,244...37,307,341 		JBrowse link
G LOC100986481 cytochrome c ISO RGD PMID:19788692 RGD:2317615 NCBI chr 7:25,784,900...25,791,598
Ensembl chr 7:25,396,013...25,398,549 		JBrowse link
G LOC100987733 paternally-expressed gene 3 protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:22561520 NCBI chr19:53,830,193...53,860,760
Ensembl chr19:62,588,511...62,654,661 		JBrowse link
G LOC100991392 serine protease 2 ISO protein:increased expression:serum RGD PMID:8621252 RGD:2324908 NCBI chr 7:134,761,471...134,765,816
Ensembl chr 7:147,223,606...147,257,587 		JBrowse link
G MDM2 MDM2 proto-oncogene disease_progression ISO protein:increased expression:intrahepatic bile duct (human) RGD PMID:15619210 RGD:2317417 NCBI chr12:66,322,340...66,357,010
Ensembl chr12:69,102,084...69,133,278 		JBrowse link
G MET MET proto-oncogene, receptor tyrosine kinase disease_progression ISO protein:increased expression:liver, biliary epithelium (rat)
protein:increased phosphorylation:liver, carcinoma (human)		 RGD PMID:14656942 PMID:16818635 RGD:2317578 RGD:2317601 NCBI chr 7:108,646,278...108,772,238
Ensembl chr 7:121,365,438...121,468,159 		JBrowse link
G MFSD4A major facilitator superfamily domain containing 4A disease_progression ISO mRNA:altered expression:liver (human) RGD PMID:31687280 RGD:152998978 NCBI chr 1:181,177,517...181,211,432
Ensembl chr 1:185,474,032...185,497,408 		JBrowse link
G MGMT O-6-methylguanine-DNA methyltransferase ISO DNA:hypermethylation:promoter (human) RGD PMID:17550320 RGD:2317632 NCBI chr10:126,059,701...126,365,850
Ensembl chr10:130,305,485...130,609,422 		JBrowse link
G MKI67 marker of proliferation Ki-67 disease_progression ISO RGD PMID:12903495 RGD:2317705 NCBI chr10:124,684,336...124,714,143
Ensembl chr10:128,936,037...128,962,555 		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 chr16:35,711,866...35,738,881
Ensembl chr16:54,812,694...54,844,279 		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 chr20:42,346,305...42,354,018
Ensembl chr20:43,432,389...43,440,129 		JBrowse link
G MSLN mesothelin ISO CTD Direct Evidence: marker/mechanism CTD PMID:14576474 Ensembl chr16:777,146...783,449 JBrowse link
G MTHFR methylenetetrahydrofolate reductase susceptibility ISO DNA:polymorphism (human) RGD PMID:17201138 RGD:2317119 NCBI chr 1:10,548,196...10,568,174
Ensembl chr 1:11,766,334...11,785,419 		JBrowse link
G MUC1 mucin 1, cell surface associated disease_progression ISO mRNA:increased expression:bile duct
protein:increased secretion:bile
protein:increased expression:serum
protein:increased expression:bile duct:		 RGD PMID:15213623 PMID:18081149 PMID:19055478 PMID:19260467 PMID:19639217 RGD:2317986 RGD:2324622 RGD:2324638 RGD:2324664 RGD:2324667 NCBI chr 1:130,533,508...130,537,866
Ensembl chr 1:134,141,969...134,145,850 		JBrowse link
G MUC16 mucin 16, cell surface associated ISO associated with Opisthorchiasis;protein:increased expression:serum RGD PMID:1653472 RGD:2325142 NCBI chr19:8,416,393...8,568,418 JBrowse link
G MUC2 mucin 2, oligomeric mucus/gel-forming ISO mRNA:decreased expression:bile duct RGD PMID:11680592 RGD:2324948 NCBI chr11:1,106,716...1,144,489
Ensembl chr11:1,143,625...1,169,741 		JBrowse link
G MUC3A mucin 3A, cell surface associated ISO mRNA:decreased expression:bile duct RGD PMID:11680592 RGD:2324948 NCBI chr 7:92,974,006...92,993,990 JBrowse link
G MUC4 mucin 4, cell surface associated disease_progression ISO protein:increased expression:bile duct RGD PMID:14752841 PMID:19082442 RGD:2303602 RGD:2324944 NCBI chr 3:193,050,895...193,114,931 JBrowse link
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 chr11:1,191,223...1,234,373 JBrowse link
G MUC5B mucin 5B, oligomeric mucus/gel-forming ISO mRNA:decreased expression:bile duct RGD PMID:11680592 RGD:2324948
G MUC6 mucin 6, oligomeric mucus/gel-forming ISO protein:increased expression: : RGD PMID:10209489 RGD:2325167 NCBI chr11:1,035,447...1,071,791
Ensembl chr11:1,077,867...1,106,927 		JBrowse link
G NAT2 N-acetyltransferase 2 ISO DNA:polymorphisms (human) RGD PMID:15901993 RGD:2317172 NCBI chr 8:17,606,445...17,623,397
Ensembl chr 8:14,575,455...14,576,327 		JBrowse link
G NCAM1 neural cell adhesion molecule 1 ISO associated with hepatitis RGD PMID:12031086 RGD:2326079 NCBI chr11:107,845,507...108,160,441
Ensembl chr11:111,925,677...112,000,401 		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 chr17:28,984,295...29,021,516
Ensembl chr17:29,471,510...29,617,093 		JBrowse link
G NOTCH1 notch receptor 1 ISO protein:increased expression:cholangiocyte RGD PMID:15887117 RGD:2325330 NCBI chr 9:107,568,670...107,621,032
Ensembl chr 9:136,544,639...136,598,740 		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 chr12:98,052,778...98,144,085
Ensembl chr12:101,457,885...101,548,058 		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 chr 3:9,702,311...9,742,283
Ensembl chr 3:9,940,955...9,947,335 		JBrowse link
G OSBP2 oxysterol binding protein 2 ISO mRNA:increased expression:blood RGD PMID:21763455 RGD:41404644 NCBI chr22:11,719,017...11,933,841
Ensembl chr22:29,520,479...29,733,061 		JBrowse link
G OSBPL7 oxysterol binding protein like 7 ISO mRNA:increased expression:blood RGD PMID:21763455 RGD:41404644 NCBI chr17:9,715,464...9,729,950
Ensembl chr17:9,897,768...9,912,065 		JBrowse link
G PANX2 pannexin 2 disease_progression ISO mRNA:altered expression:liver (human) RGD PMID:31687280 RGD:152998978 NCBI chr22:30,398,717...30,408,358
Ensembl chr22:49,404,624...49,408,045 		JBrowse link
G PAWR pro-apoptotic WT1 regulator ISO mRNA,protein:decreased expression:cholangiocyte: RGD PMID:20724592 RGD:9835357 NCBI chr12:77,114,282...77,224,116
Ensembl chr12:79,969,517...80,070,796 		JBrowse link
G PBRM1 polybromo 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24185509 NCBI chr 3:52,487,083...52,626,418
Ensembl chr 3:53,718,051...53,850,146 		JBrowse link
G PES1 pescadillo ribosomal biogenesis factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:34845814 NCBI chr22:11,604,897...11,620,187
Ensembl chr22:29,406,095...29,420,868 		JBrowse link
G PIR pirin disease_progression ISO mRNA:altered expression:liver (human) RGD PMID:31687280 RGD:152998978 NCBI chr  X:8,011,382...8,121,994
Ensembl chr  X:15,294,099...15,404,004 		JBrowse link
G POLR1C RNA polymerase I and III subunit C ISO ClinVar Annotator: match by term: Cholangiocarcinoma ClinVar PMID:18550579 NCBI chr 6:43,101,771...43,121,460
Ensembl chr 6:44,395,787...44,412,257 		JBrowse link
G PPIA peptidylprolyl isomerase A ameliorates ISO human cell line and construct in a mouse model RGD PMID:21871105 RGD:150429623 NCBI chr 7:45,510,450...45,515,448
Ensembl chr 7:45,578,765...45,605,545 		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 4:93,447,095...93,770,339
Ensembl chr 4:104,113,520...104,435,394 		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 8:64,489,817...64,769,602
Ensembl chr 8:66,215,974...66,430,138 		JBrowse link
G PRKACA protein kinase cAMP-activated catalytic subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:26258846 NCBI chr19:13,657,344...13,683,864
Ensembl chr19:14,385,191...14,406,205 		JBrowse link
G PRKACB protein kinase cAMP-activated catalytic subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:26258846 NCBI chr 1:116,625,640...116,786,396
Ensembl chr 1:85,487,681...85,644,253 		JBrowse link
G PRRG4 proline rich and Gla domain 4 disease_progression ISO mRNA:altered expression:liver (human) RGD PMID:31687280 RGD:152998978 NCBI chr11:32,790,274...32,816,067
Ensembl chr11:32,678,175...32,702,862 		JBrowse link
G PRSS56 serine protease 56 disease_progression ISO mRNA:altered expression:liver (human) RGD PMID:31687280 RGD:152998978 NCBI chr2B:119,751,950...119,757,308
Ensembl chr2B:238,670,931...238,675,839 		JBrowse link
G PTEN phosphatase and tensin homolog ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:23376645 PMID:27022031 RGD:12802341 NCBI chr10:84,587,841...84,689,043
Ensembl chr10:88,093,539...88,194,605 		JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 ISO ClinVar Annotator: match by term: Cholangiocarcinoma ClinVar NCBI chr 1:162,205,534...162,214,130
Ensembl chr 1:166,355,845...166,364,519 		JBrowse link
G RASSF8 Ras association domain family member 8 disease_progression ISO mRNA:altered expression:liver (human) RGD PMID:31687280 RGD:152998978 NCBI chr12:60,246,885...60,361,888
Ensembl chr12:62,867,015...62,880,512 		JBrowse link
G RNF39 ring finger protein 39 disease_progression ISO mRNA:altered expression:liver (human) RGD PMID:31687280 RGD:152998978 NCBI chr 6:29,848,055...29,853,659 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 chr17:52,420,516...52,492,813
Ensembl chr17:57,276,761...57,347,748 		JBrowse link
G ROBO2 roundabout guidance receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22561520 NCBI chr 3:76,013,780...77,764,156
Ensembl chr 3:79,030,223...79,632,309 		JBrowse link
G RUNX3 RUNX family transcription factor 3 ISO protein:decreased expression:bile duct RGD PMID:19827872 RGD:2324955 NCBI chr 1:24,097,321...24,164,065
Ensembl chr 1:25,073,134...25,137,335 		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 4:52,659,221...52,994,053
Ensembl chr 4:59,002,200...59,385,608 		JBrowse link
G SLC5A5 solute carrier family 5 member 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17408651 NCBI chr19:17,352,635...17,377,130
Ensembl chr19:18,327,410...18,344,480 		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 chr16:68,512,407...68,552,763 JBrowse link
G SMAD4 SMAD family member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22561520 NCBI chr18:44,402,112...44,456,779
Ensembl chr18:47,764,568...47,797,359 		JBrowse link
G SOCS3 suppressor of cytokine signaling 3 severity ISO protein:decreased expression:bile duct (human) RGD PMID:26485275 RGD:11250478 NCBI chr17:72,433,206...72,436,500
Ensembl chr17:77,983,389...77,984,066 		JBrowse link
G SOX17 SRY-box transcription factor 17 severity ISO RGD PMID:20816680 RGD:4889598 NCBI chr 8:50,883,088...50,885,542
Ensembl chr 8:48,257,287...48,259,808 		JBrowse link
G SOX2 SRY-box transcription factor 2 disease_progression ISO mRNA:altered expression:liver (human) RGD PMID:31687280 RGD:152998978 NCBI chr 3:178,744,881...178,747,392
Ensembl chr 3:186,922,705...186,923,662 		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 chr19:38,324,009...38,347,003
Ensembl chr19:46,831,659...46,852,973 		JBrowse link
G TGFBR2 transforming growth factor beta receptor 2 ISO mRNA:increased expression:bile duct RGD PMID:12632524 RGD:1299231 NCBI chr 3:30,536,187...30,623,653
Ensembl chr 3:30,854,460...30,938,856 		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 chr15:18,521,802...18,538,172
Ensembl chr15:36,776,756...36,793,170 		JBrowse link
G TNC tenascin C severity ISO RGD PMID:20816680 RGD:4889598 NCBI chr 9:86,125,672...86,222,804
Ensembl chr 9:114,486,778...114,584,299 		JBrowse link
G TNFAIP3 TNF alpha induced protein 3 severity ISO protein:increased expression:bile duct (human) RGD PMID:26485275 RGD:11250478 NCBI chr 6:135,617,465...135,634,085
Ensembl chr 6:139,705,255...139,720,819 		JBrowse link
G TP53 tumor protein p53 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16818635 PMID:22561520 NCBI chr17:7,699,449...7,717,812
Ensembl chr17:7,684,922...7,706,120 		JBrowse link
G TTR transthyretin ISO protein:decreased expression:blood serum (human) RGD PMID:18275060 RGD:151660506 NCBI chr18:24,809,707...24,816,713
Ensembl chr18:28,407,893...28,414,960 		JBrowse link
G VEGFA vascular endothelial growth factor A ISO ClinVar Annotator: match by term: Cholangiocarcinoma ClinVar PMID:18550579 NCBI chr 6:43,361,053...43,377,366
Ensembl chr 6:44,650,365...44,666,353 		JBrowse link
G WDHD1 WD repeat and HMG-box DNA binding protein 1 ameliorates ISO RGD PMID:30314946 RGD:156420141 NCBI chr14:35,528,981...35,614,145
Ensembl chr14:53,807,684...53,889,703 		JBrowse link
G WNT9A Wnt family member 9A disease_progression ISO mRNA:altered expression:liver (human) RGD PMID:31687280 RGD:152998978 NCBI chr 1:203,320,990...203,350,599
Ensembl chr 1:208,300,609...208,327,191 		JBrowse link
extrahepatic bile duct adenocarcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BAP1 BRCA1 associated protein 1 disease_progression ISO RGD PMID:25536104 RGD:150340631 NCBI chr 3:52,344,067...52,352,187
Ensembl chr 3:53,573,785...53,581,943 		JBrowse link
G PBRM1 polybromo 1 disease_progression ISO RGD PMID:25536104 RGD:150340631 NCBI chr 3:52,487,083...52,626,418
Ensembl chr 3:53,718,051...53,850,146 		JBrowse link
G RAC1 Rac family small GTPase 1 ISO protein:increased expression:mucosa (human) RGD PMID:21537609 RGD:153350126 NCBI chr 7:7,039,379...7,068,866 JBrowse link
G SLC7A5 solute carrier family 7 member 5 disease_progression ISO RGD PMID:24890221 RGD:151361210 NCBI chr16:68,512,407...68,552,763 JBrowse link
extrahepatic bile duct carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G POLD1 DNA polymerase delta 1, catalytic subunit ISO ClinVar Annotator: match by term: Extrahepatic bile duct cancer ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr19:47,347,919...47,381,772
Ensembl chr19:56,251,356...56,297,611 		JBrowse link
G XPO1 exportin 1 disease_progression ISO protein:increased expression:extrahepatic bile duct (human) RGD PMID:27279267 RGD:151665800 NCBI chr2A:61,562,372...61,622,841
Ensembl chr2A:62,698,935...62,757,793 		JBrowse link
intrahepatic cholangiocarcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APC APC regulator of WNT signaling pathway ISO ClinVar Annotator: match by term: Intrahepatic cholangiocarcinoma ClinVar PMID:24728327 PMID:25479140 PMID:25741868 PMID:26467025 PMID:26530882 More... NCBI chr 5:108,070,697...108,208,273
Ensembl chr 5:113,904,352...114,009,709 		JBrowse link
G ARID1A AT-rich interaction domain 1A disease_progression
exacerbates		 ISO mRNA,protein:decreased expression:intrahepatic bile duct (human) RGD PMID:27433094 PMID:30849962 PMID:31665232 RGD:126775257 RGD:126781775 RGD:14974231 NCBI chr 1:25,960,868...26,047,057
Ensembl chr 1:27,018,616...27,103,239 		JBrowse link
G BAP1 BRCA1 associated protein 1 disease_progression ISO RGD PMID:27864835 RGD:150340628 NCBI chr 3:52,344,067...52,352,187
Ensembl chr 3:53,573,785...53,581,943 		JBrowse link
G BECN1 beclin 1 disease_progression ISO RGD PMID:30849962 RGD:14974231 NCBI chr17:14,493,619...14,507,809
Ensembl chr17:14,719,781...14,733,286 		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 chr 7:132,651,908...132,855,422
Ensembl chr 7:145,138,510...145,327,115 		JBrowse link
G FAS Fas cell surface death receptor disease_progression ISO RGD PMID:11003620 RGD:14700701 NCBI chr10:85,707,457...85,741,539
Ensembl chr10:89,217,949...89,243,612 		JBrowse link
G FASLG Fas ligand severity ISO RGD PMID:11003620 RGD:14700701 NCBI chr 1:148,159,826...148,167,785
Ensembl chr 1:151,868,430...151,876,281 		JBrowse link
G FOXP3 forkhead box P3 ISO DNA:hypomethylation:liver RGD PMID:24291052 RGD:38599002 NCBI chr  X:41,550,462...41,567,492
Ensembl chr  X:49,402,652...49,417,029 		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 chr14:82,700,881...82,707,020
Ensembl chr14:102,519,699...102,576,723 		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 chr 6:43,842,796...43,849,637
Ensembl chr 6:45,125,773...45,133,872 		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 chr2B:95,475,320...95,494,286
Ensembl chr2B:213,599,036...213,617,175 		JBrowse link
G IDH2 isocitrate dehydrogenase (NADP(+)) 2 disease_progression ISO DNA:mutations: :
mRNA:decreased expression:liver (mouse)		 RGD PMID:22824796 PMID:32463951 RGD:149735894 RGD:14985256 NCBI chr15:68,771,050...68,790,523
Ensembl chr15:87,972,889...87,991,276 		JBrowse link
G KDM5C lysine demethylase 5C exacerbates ISO protein:decreased expression:bile duct (human) RGD PMID:32714863 RGD:151361175 NCBI chr  X:45,377,609...45,440,025
Ensembl chr  X:53,515,886...53,548,785 		JBrowse link
G KRAS KRAS proto-oncogene, GTPase disease_progression ISO DNA:mutations:: RGD
MouseDO		 PMID:24139215 RGD:14398746 NCBI chr12:61,062,689...61,108,524
Ensembl chr12:63,679,293...63,724,335 		JBrowse link
G LCN2 lipocalin 2 treatment ISO Protein:increased expression:bile duct RGD PMID:24939880 RGD:126790491 NCBI chr 9:99,259,278...99,274,494
Ensembl chr 9:127,940,799...127,944,798 		JBrowse link
G LRP1B LDL receptor related protein 1B exacerbates ISO DNA:mutations:multiple: (human) RGD PMID:33014052 RGD:150429786 NCBI chr2B:17,702,178...19,611,567
Ensembl chr2B:144,382,759...146,221,243 		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 chr 3:65,257,763...65,932,527
Ensembl chr 3:66,635,580...66,757,358 		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 chr 3:52,487,083...52,626,418
Ensembl chr 3:53,718,051...53,850,146 		JBrowse link
G PTEN phosphatase and tensin homolog disease_progression ISO protein:decreased expression:liver (human) RGD PMID:24796583 RGD:152177907 NCBI chr10:84,587,841...84,689,043
Ensembl chr10:88,093,539...88,194,605 		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 chr17:52,420,516...52,492,813
Ensembl chr17:57,276,761...57,347,748 		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 chr21:33,063,845...33,070,073
Ensembl chr21:46,197,750...46,203,953 		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 chr18:44,402,112...44,456,779
Ensembl chr18:47,764,568...47,797,359 		JBrowse link
G TEP1 telomerase associated protein 1 ISO mRNA:increased expression:hepatocyte,biliary epithelium. RGD PMID:10498642 RGD:152977753 NCBI chr14:1,240,370...1,285,787
Ensembl chr14:19,293,452...19,332,960 		JBrowse link
Klatskin's tumor term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APC APC regulator of WNT signaling pathway ISO ClinVar Annotator: match by term: Klatskin tumor ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:108,070,697...108,208,273
Ensembl chr 5:113,904,352...114,009,709 		JBrowse link
G ARID1A AT-rich interaction domain 1A disease_progression ISO DNA:deletions RGD PMID:33387086 RGD:126848756 NCBI chr 1:25,960,868...26,047,057
Ensembl chr 1:27,018,616...27,103,239 		JBrowse link
G GATA6 GATA binding protein 6 sexual_dimorphism ISO DNA:mutations RGD PMID:33387086 RGD:126848756 NCBI chr18:15,411,764...15,444,402 JBrowse link
G KMT2C lysine methyltransferase 2C onset ISO DNA:mutations RGD PMID:33387086 RGD:126848756 NCBI chr 7:143,714,716...144,016,188
Ensembl chr 7:155,862,610...156,081,043 		JBrowse link
G KRAS KRAS proto-oncogene, GTPase disease_progression ISO DNA:mutations RGD PMID:33387086 RGD:126848756 NCBI chr12:61,062,689...61,108,524
Ensembl chr12:63,679,293...63,724,335 		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 8:64,489,817...64,769,602
Ensembl chr 8:66,215,974...66,430,138 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15686
    disease of anatomical entity 15297
      gastrointestinal system disease 6513
        hepatobiliary disease 2809
          hepatobiliary benign neoplasm 167
            biliary tract benign neoplasm 141
              Bile Duct Neoplasms 138
                bile duct cancer 136
                  ampulla of Vater cancer + 0
                  bile duct carcinoma + 127
                  bile duct sarcoma + 0
Path 2
Term Annotations click to browse term
  disease 15686
    disease of cellular proliferation 7263
      Neoplasms by Site 6730
        Digestive System Neoplasms 3683
          Gastrointestinal Neoplasms 3563
            gastrointestinal system benign neoplasm 215
              hepatobiliary benign neoplasm 167
                biliary tract benign neoplasm 141
                  Bile Duct Neoplasms 138
                    bile duct cancer 136
                      ampulla of Vater cancer + 0
                      bile duct carcinoma + 127
                      bile duct sarcoma + 0
paths to the root