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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:Bile Duct Neoplasms
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Accession:DOID:9002936 term browser browse the term
Definition:Tumors or cancer of the BILE DUCTS.
Synonyms:exact_synonym: bile duct neoplasm
 primary_id: MESH:D001650


show annotations for term's descendants           Sort by:
Bile Duct Neoplasms term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Asph aspartate-beta-hydroxylase ISO mRNA:increased expression:bile duct RGD PMID:16673309 RGD:2325824 NCBI chr 4:9,449,085...9,669,344
Ensembl chr 4:9,448,069...9,669,344 		JBrowse link
G Egfr epidermal growth factor receptor ISO CTD Direct Evidence: therapeutic CTD PMID:17341899 NCBI chr11:16,700,153...16,868,158
Ensembl chr11:16,702,203...16,868,158 		JBrowse link
G Fscn1 fascin actin-bundling protein 1 disease_progression ISO protein:increased expression:bile duct RGD PMID:17419223 RGD:2317786 NCBI chr 5:142,946,110...142,958,944
Ensembl chr 5:142,946,098...142,958,940 		JBrowse link
G Il6 interleukin 6 disease_progression ISO protein:increased expression:serum RGD PMID:17617204 RGD:2317166 NCBI chr 5:30,218,112...30,224,973
Ensembl chr 5:30,218,112...30,224,979 		JBrowse link
G Met met proto-oncogene ISO protein:increased expression:intrahepatic bile duct (human) RGD PMID:15892172 RGD:2317585 NCBI chr 6:17,463,351...17,573,979
Ensembl chr 6:17,463,799...17,573,979 		JBrowse link
G Mgmt O-6-methylguanine-DNA methyltransferase severity ISO protein:decreased expression:carcinoma of extrahepatic bile duct (human) RGD PMID:11986189 RGD:2317662 NCBI chr 7:136,496,315...136,732,001
Ensembl chr 7:136,496,343...136,731,995 		JBrowse link
G Mki67 antigen identified by monoclonal antibody Ki 67 disease_progression ISO RGD PMID:9869516 RGD:2317706 NCBI chr 7:135,291,513...135,318,286
Ensembl chr 7:135,291,513...135,318,090 		JBrowse link
G Muc16 mucin 16 ISO protein:increased expression:serum,bile RGD PMID:1657243 RGD:2325134 NCBI chr 9:18,406,741...18,586,117
Ensembl chr 9:18,406,751...18,585,826 		JBrowse link
G Muc4 mucin 4 disease_progression ISO protein:increased expression:bile duct RGD PMID:16857800 RGD:2324929 NCBI chr16:32,555,089...32,602,786
Ensembl chr16:32,555,015...32,602,754 		JBrowse link
G Ncam1 neural cell adhesion molecule 1 disease_progression ISO RGD PMID:8501910 PMID:9851639 RGD:2326077, RGD:2326076 NCBI chr 9:49,413,434...49,710,909
Ensembl chr 9:49,413,436...49,710,225 		JBrowse link
G Runx3 runt related transcription factor 3 ISO DNA:hypermethylation:promoter RGD PMID:15471559 RGD:2324957 NCBI chr 4:134,847,956...134,905,301
Ensembl chr 4:134,847,963...134,905,301 		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 (cationic amino acid transporter, y+ system), member 5 disease_progression ISO RGD PMID:24131658 RGD:151361287 NCBI chr 8:122,607,885...122,634,425
Ensembl chr 8:122,607,889...122,634,433 		JBrowse link
bile duct adenoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Braf Braf transforming gene IAGP DNA:missense mutation:cds:p.V600E (human) RGD PMID:25704541 RGD:11521169 NCBI chr 6:39,580,171...39,702,592
Ensembl chr 6:39,580,171...39,702,397 		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 chr12:8,027,629...8,066,839
Ensembl chr12:8,027,648...8,066,835 		JBrowse link
G Apoe apolipoprotein E susceptibility ISO DNA:SNP:intron:rs440446 (human) RGD PMID:18296645 RGD:2317550 NCBI chr 7:19,430,169...19,434,326
Ensembl chr 7:19,430,034...19,433,113 		JBrowse link
G Atm ataxia telangiectasia mutated ISO ClinVar Annotator: match by term: Bile duct cancer ClinVar PMID:9887333 PMID:17124347 PMID:20077034 PMID:25741868 PMID:26635394 More... NCBI chr 9:53,348,422...53,448,125
Ensembl chr 9:53,350,449...53,448,040 		JBrowse link
G Mir31 microRNA 31 exacerbates ISO RNA:increased expression:bile duct (human) RGD PMID:29860474 RGD:152998990 NCBI chr 4:88,828,794...88,828,899
Ensembl chr 4:88,828,794...88,828,899 		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 9:111,057,296...111,100,854
Ensembl chr 9:111,057,296...111,100,859 		JBrowse link
G Msh2 mutS homolog 2 ISO ClinVar Annotator: match by term: Bile duct cancer ClinVar PMID:25741868 PMID:33357406 NCBI chr17:87,979,960...88,031,141
Ensembl chr17:87,979,758...88,031,141 		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 7:121,706,485...121,732,203
Ensembl chr 7:121,706,485...121,732,208 		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 chr17:24,767,657...24,815,457
Ensembl chr17:24,768,808...24,815,482 		JBrowse link
G Pold1 polymerase (DNA directed), delta 1, catalytic subunit ISO ClinVar Annotator: match by term: Bile duct cancer ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 7:44,182,168...44,198,239
Ensembl chr 7:44,182,170...44,198,273 		JBrowse link
G Stk11 serine/threonine kinase 11 ISO ClinVar Annotator: match by term: Bile duct cancer ClinVar PMID:25741868 PMID:28492532 NCBI chr10:79,951,602...79,966,513
Ensembl chr10:79,951,637...79,966,516 		JBrowse link
G Tjp1 tight junction protein 1 ISO protein:decreased expression:bile duct RGD PMID:19184677 RGD:2325030 NCBI chr 7:64,945,913...65,177,629
Ensembl chr 7:64,945,913...65,177,529 		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 chr17:25,967,587...25,973,352
Ensembl chr17:25,967,587...25,973,352 		JBrowse link
G Slc7a5 solute carrier family 7 (cationic amino acid transporter, y+ system), member 5 disease_progression ISO RGD PMID:24890221 RGD:151361210 NCBI chr 8:122,607,885...122,634,425
Ensembl chr 8:122,607,889...122,634,433 		JBrowse link
cholangiocarcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc2 ATP-binding cassette, sub-family member 2 susceptibility ISO DNA:polymorphism:exon:c.3972C>T (human) RGD PMID:19451719 RGD:2317508 NCBI chr19:43,770,747...43,826,771
Ensembl chr19:43,770,631...43,829,179 		JBrowse link
G Adrb2 adrenergic receptor, beta 2 ISO protein:decreased expression:liver RGD PMID:16292515 RGD:2325640 NCBI chr18:62,310,784...62,313,052
Ensembl chr18:62,310,887...62,313,030 		JBrowse link
G Alb albumin disease_progression ISO RGD PMID:10776430 PMID:17545000 PMID:20431764 RGD:2325682, RGD:2325680, RGD:2325679 NCBI chr 5:90,608,729...90,624,461
Ensembl chr 5:90,608,756...90,624,461 		JBrowse link
G Alox5 arachidonate 5-lipoxygenase ISO protein:increased expression:bile duct RGD PMID:18507031 RGD:2317521 NCBI chr 6:116,387,030...116,438,139
Ensembl chr 6:116,387,038...116,438,139 		JBrowse link
G Anxa2 annexin A2 disease_progression ISO RGD PMID:20493868 RGD:2325728 NCBI chr 9:69,360,978...69,399,074
Ensembl chr 9:69,360,902...69,399,077 		JBrowse link
G Anxa8 annexin A8 ISO RGD PMID:19376120 RGD:2325733 NCBI chr14:33,807,936...33,822,528
Ensembl chr14:33,807,938...33,822,528 		JBrowse link
G Apc APC, WNT signaling pathway regulator ISO DNA:hypermethylation:promoter
DNA:loss of heterozygosity		 RGD PMID:15467712 PMID:10212000 RGD:2317198, RGD:2317205 NCBI chr18:34,353,350...34,455,243
Ensembl chr18:34,353,977...34,455,605 		JBrowse link
G Apoa1 apolipoprotein A-I ISO protein:decreased expression:serum RGD PMID:19486127 RGD:2325756 NCBI chr 9:46,139,928...46,141,767
Ensembl chr 9:46,139,878...46,141,764 		JBrowse link
G Arid1a AT-rich interaction domain 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:24185509 NCBI chr 4:133,406,319...133,484,682
Ensembl chr 4:133,406,319...133,484,080 		JBrowse link
G Asph aspartate-beta-hydroxylase ISO RGD PMID:21898484 RGD:6902945 NCBI chr 4:9,449,085...9,669,344
Ensembl chr 4:9,448,069...9,669,344 		JBrowse link
G Atg101 autophagy related 101 disease_progression ISO RGD PMID:35592424 RGD:153350091 NCBI chr15:101,182,182...101,188,855
Ensembl chr15:101,182,153...101,188,826 		JBrowse link
G Bap1 Brca1 associated protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24185509 PMID:25231345 NCBI chr14:30,973,358...30,981,887
Ensembl chr14:30,973,407...30,981,901 		JBrowse link
G Birc6 baculoviral IAP repeat-containing 6 ameliorates ISO mRNA:increased expression:bile duct (human) RGD PMID:31964418 RGD:153344516 NCBI chr17:74,835,247...75,010,351
Ensembl chr17:74,835,290...75,010,351 		JBrowse link
G Braf Braf transforming gene IAGP DNA:missense mutation:cds:p.V600E (human) RGD PMID:12692057 RGD:11073239 NCBI chr 6:39,580,171...39,702,592
Ensembl chr 6:39,580,171...39,702,397 		JBrowse link
G Cdkn2a cyclin dependent kinase inhibitor 2A onset ISO protein:decreased expression:liver RGD PMID:15619210 RGD:2317417 NCBI chr 4:89,192,710...89,212,856
Ensembl chr 4:89,192,708...89,212,890 		JBrowse link
G Cxcl15 C-X-C motif chemokine ligand 15 ISO ClinVar Annotator: match by term: Cholangiocarcinoma ClinVar PMID:18550579 NCBI chr 5:90,942,393...90,950,926
Ensembl chr 5:90,942,393...90,950,926 		JBrowse link
G Cxcr1 C-X-C motif chemokine receptor 1 ISO ClinVar Annotator: match by term: Cholangiocarcinoma ClinVar PMID:18550579 NCBI chr 1:74,228,862...74,233,867
Ensembl chr 1:74,230,944...74,233,790 		JBrowse link
G Cycs cytochrome c, somatic ISO RGD PMID:19788692 RGD:2317615 NCBI chr 6:50,539,543...50,543,549
Ensembl chr 6:50,539,543...50,543,518 		JBrowse link
G Cyp24a1 cytochrome P450, family 24, subfamily a, polypeptide 1 ISO protein:increased expression:intrahepatic bile, extrahepatic bile duct (human) RGD PMID:23375797 RGD:151361187 NCBI chr 2:170,324,877...170,339,065
Ensembl chr 2:170,324,628...170,339,065 		JBrowse link
G Egf epidermal growth factor ISO ClinVar Annotator: match by term: Cholangiocarcinoma ClinVar PMID:18550579 PMID:25741868 PMID:28492532 NCBI chr 3:129,471,223...129,548,971
Ensembl chr 3:129,471,214...129,548,965 		JBrowse link
G Egfr epidermal growth factor receptor ISO CTD Direct Evidence: therapeutic
ClinVar Annotator: match by term: Cholangiocarcinoma		 CTD
ClinVar		 PMID:17341899 PMID:18550579 PMID:24728327 PMID:25741868 PMID:28492532 NCBI chr11:16,700,153...16,868,158
Ensembl chr11:16,702,203...16,868,158 		JBrowse link
G Epo erythropoietin ISO mRNA, protein:increased expression:liver RGD PMID:23052842 RGD:10400912 NCBI chr 5:137,481,282...137,484,078
Ensembl chr 5:137,481,282...137,531,504 		JBrowse link
G Epor erythropoietin receptor ISO mRNA, protein:increased expression:liver RGD PMID:23052842 RGD:10400912 NCBI chr 9:21,870,193...21,874,915
Ensembl chr 9:21,870,193...21,874,802 		JBrowse link
G Erbb2 erb-b2 receptor tyrosine kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16818635 NCBI chr11:98,303,310...98,328,542
Ensembl chr11:98,303,296...98,328,542 		JBrowse link
G Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit disease_progression
no_association		 ISO DNA:SNP: :g.148505302C>T (rs887569) (human)
DNA:SNPs: :g.148525904C>G, (rs2302427), g.148519011C>T (rs6464926), g.148517456T>G (rs17171119) (human)		 RGD PMID:24179546 PMID:24179546 RGD:126779604, RGD:126779604 NCBI chr 6:47,507,208...47,613,843
Ensembl chr 6:47,507,073...47,572,275 		JBrowse link
G Fasl Fas ligand ISO RGD PMID:11029528 RGD:2317746 NCBI chr 1:161,608,260...161,616,064
Ensembl chr 1:161,608,258...161,616,064 		JBrowse link
G Fgf2 fibroblast growth factor 2 ISO protein:increased expression:bile RGD PMID:11478488 RGD:2317765 NCBI chr 3:37,402,616...37,464,255
Ensembl chr 3:37,402,495...37,464,257 		JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26258846 NCBI chr 7:129,764,181...129,868,538
Ensembl chr 7:129,764,181...132,725,079 		JBrowse link
G Fscn1 fascin actin-bundling protein 1 disease_progression ISO protein:increased expression:bile ducts RGD PMID:19721413 RGD:2317780 NCBI chr 5:142,946,110...142,958,944
Ensembl chr 5:142,946,098...142,958,940 		JBrowse link
G Gm15283 predicted gene 15283 ISO ClinVar Annotator: match by term: Cholangiocarcinoma ClinVar PMID:12919954 PMID:18550579 PMID:22647679 PMID:24120591 PMID:25741868 NCBI chr12:73,981,498...73,999,213
Ensembl chr12:73,889,811...73,996,735 		JBrowse link
G Gnas GNAS complex locus disease_progression ISO DNA:polymorphism:393T>C (human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:22561520 PMID:17356712 RGD:1601377 NCBI chr 2:174,126,113...174,188,537
Ensembl chr 2:174,126,113...174,188,537 		JBrowse link
G Gstm1 glutathione S-transferase, mu 1 ISO RGD PMID:24049014 RGD:14700980 NCBI chr 3:107,919,566...107,925,289
Ensembl chr 3:107,919,571...107,925,289 		JBrowse link
G Gstp1 glutathione S-transferase, pi 1 treatment ISO DNA:hypermethylation:promoter
human cell line in a mouse model		 RGD PMID:15467712 PMID:12805482 RGD:2317198, RGD:14401711 NCBI chr19:4,085,411...4,087,912
Ensembl chr19:4,085,407...4,087,985 		JBrowse link
G Hdac6 histone deacetylase 6 ISO protein:increased expression:liver: RGD PMID:23370327 RGD:9681560 NCBI chr  X:7,796,355...7,814,284
Ensembl chr  X:7,796,359...7,814,128 		JBrowse link
G Hgf hepatocyte growth factor ISO mRNA, protein:increased expression: :
protein:increased expression:serum		 RGD PMID:10827151 PMID:16974053 RGD:2317925, RGD:2317909 NCBI chr 5:16,758,493...16,827,448
Ensembl chr 5:16,758,493...16,825,150 		JBrowse link
G Hif1a hypoxia inducible factor 1, alpha subunit ISO ClinVar Annotator: match by term: Cholangiocarcinoma ClinVar PMID:12919954 PMID:18550579 PMID:22647679 PMID:24120591 PMID:25741868 NCBI chr12:73,948,186...73,994,304
Ensembl chr12:73,948,149...73,994,304 		JBrowse link
G Idh1 isocitrate dehydrogenase 1 (NADP+), soluble ISO CTD Direct Evidence: marker/mechanism CTD PMID:24185509 NCBI chr 1:65,197,775...65,225,638
Ensembl chr 1:65,197,775...65,225,659 		JBrowse link
G Idh2 isocitrate dehydrogenase 2 (NADP+), mitochondrial ISO CTD Direct Evidence: marker/mechanism CTD PMID:24185509 NCBI chr 7:79,744,594...79,768,356
Ensembl chr 7:79,744,594...79,765,140 		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 chr 1:130,947,459...130,952,707
Ensembl chr 1:130,947,582...130,952,711 		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 chr 1:130,860,393...130,873,194
Ensembl chr 1:130,860,393...130,867,852 		JBrowse link
G Il1b interleukin 1 beta ISO ClinVar Annotator: match by term: Cholangiocarcinoma ClinVar PMID:18550579 NCBI chr 2:129,206,490...129,213,059
Ensembl chr 2:129,206,490...129,213,059 		JBrowse link
G Il1r2 interleukin 1 receptor, type II disease_progression ISO mRNA:altered expression:liver (human) RGD PMID:31687280 RGD:152998978 NCBI chr 1:40,123,872...40,164,390
Ensembl chr 1:40,113,239...40,164,391 		JBrowse link
G Il4ra interleukin 4 receptor, alpha ISO mRNA:increased expression:bile duct RGD PMID:18798553 RGD:2317263 NCBI chr 7:125,151,443...125,178,646
Ensembl chr 7:125,151,292...125,178,646 		JBrowse link
G Il6 interleukin 6 ISO 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 5:30,218,112...30,224,973
Ensembl chr 5:30,218,112...30,224,979 		JBrowse link
G Ins2 insulin II disease_progression ISO mRNA:altered expression:liver (human) RGD PMID:31687280 RGD:152998978 NCBI chr 7:142,232,393...142,233,463
Ensembl chr 7:142,232,393...142,297,118 		JBrowse link
G Kcnd2 potassium voltage-gated channel, Shal-related family, member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:34418280 NCBI chr 6:21,212,101...21,729,804
Ensembl chr 6:21,215,502...21,729,804 		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 5:75,735,647...75,817,382
Ensembl chr 5:75,735,576...75,817,382 		JBrowse link
G Kmt2c lysine (K)-specific methyltransferase 2C ISO CTD Direct Evidence: marker/mechanism CTD PMID:22561520 NCBI chr 5:25,476,793...25,703,853
Ensembl chr 5:25,476,796...25,703,781 		JBrowse link
G Kras Kirsten rat sarcoma viral oncogene homolog ISO CTD Direct Evidence: marker/mechanism CTD PMID:8968066 PMID:22561520 NCBI chr 6:145,162,425...145,197,631
Ensembl chr 6:145,162,425...145,195,965 		JBrowse link
G Krt7 keratin 7 ISO RGD PMID:18393293 RGD:2317308 NCBI chr15:101,310,284...101,325,687
Ensembl chr15:101,308,924...101,328,194 		JBrowse link
G Mdm2 transformed mouse 3T3 cell double minute 2 disease_progression ISO protein:increased expression:intrahepatic bile duct (human) RGD PMID:15619210 RGD:2317417 NCBI chr10:117,524,780...117,546,663
Ensembl chr10:117,524,780...117,546,663 		JBrowse link
G Met met proto-oncogene disease_progression 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 6:17,463,351...17,573,979
Ensembl chr 6:17,463,799...17,573,979 		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 1:131,947,543...131,997,400
Ensembl chr 1:131,950,544...131,995,800 		JBrowse link
G Mgmt O-6-methylguanine-DNA methyltransferase ISO DNA:hypermethylation:promoter (human) RGD PMID:17550320 RGD:2317632 NCBI chr 7:136,496,315...136,732,001
Ensembl chr 7:136,496,343...136,731,995 		JBrowse link
G Mir155 microRNA 155 ISO miRNA:increased expression:serum RGD PMID:30653586 RGD:21081530 NCBI chr16:84,511,028...84,511,092
Ensembl chr16:84,511,028...84,511,092 		JBrowse link
G Mir192 microRNA 192 ISO RNA:increased expression:urine RGD PMID:26456596 RGD:41404678 NCBI chr19:6,314,874...6,314,962
Ensembl chr19:6,314,874...6,314,962 		JBrowse link
G Mir21a microRNA 21a ISO RNA:increased expression:urine RGD PMID:26456596 RGD:41404678 NCBI chr11:86,474,893...86,474,984
Ensembl chr11:86,474,893...86,474,984 		JBrowse link
G Mir23b microRNA 23b ISO CTD Direct Evidence: marker/mechanism CTD PMID:34418280 NCBI chr13:63,448,298...63,448,371
Ensembl chr13:63,448,298...63,448,371 		JBrowse link
G Mir494 microRNA 494 severity
exacerbates		 ISO RGD PMID:30314946 PMID:30314946 RGD:156420141, RGD:156420141 NCBI chr12:109,681,752...109,681,836
Ensembl chr12:109,681,752...109,681,836 		JBrowse link
G Mki67 antigen identified by monoclonal antibody Ki 67 disease_progression ISO RGD PMID:12903495 RGD:2317705 NCBI chr 7:135,291,513...135,318,286
Ensembl chr 7:135,291,513...135,318,090 		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 8:93,553,920...93,580,049
Ensembl chr 8:93,553,919...93,580,048 		JBrowse link
G Mmp9 matrix metallopeptidase 9 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 chr 2:164,782,246...164,797,770
Ensembl chr 2:164,782,700...164,797,770 		JBrowse link
G Msln mesothelin ISO CTD Direct Evidence: marker/mechanism CTD PMID:14576474 NCBI chr17:25,967,587...25,973,352
Ensembl chr17:25,967,587...25,973,352 		JBrowse link
G Mthfr methylenetetrahydrofolate reductase susceptibility ISO DNA:polymorphism (human) RGD PMID:17201138 RGD:2317119 NCBI chr 4:148,123,534...148,144,019
Ensembl chr 4:148,123,534...148,144,008 		JBrowse link
G Muc1 mucin 1, transmembrane disease_progression ISO protein:increased secretion:bile
mRNA:increased expression:bile duct
protein:increased expression:bile duct:
protein:increased expression:serum		 RGD PMID:19055478 PMID:18081149 PMID:15213623 PMID:19260467 PMID:19639217 RGD:2324622, RGD:2324638, RGD:2324667, RGD:2324664, RGD:2317986 NCBI chr 3:89,136,363...89,140,688
Ensembl chr 3:89,136,364...89,140,688 		JBrowse link
G Muc16 mucin 16 ISO associated with Opisthorchiasis;protein:increased expression:serum RGD PMID:1653472 RGD:2325142 NCBI chr 9:18,406,741...18,586,117
Ensembl chr 9:18,406,751...18,585,826 		JBrowse link
G Muc2 mucin 2 ISO mRNA:decreased expression:bile duct RGD PMID:11680592 RGD:2324948 NCBI chr 7:141,276,583...141,308,428
Ensembl chr 7:141,276,583...141,308,430 		JBrowse link
G Muc3a mucin 3A, cell surface associated ISO mRNA:decreased expression:bile duct RGD PMID:11680592 RGD:2324948 NCBI chr 5:137,243,263...137,276,564
Ensembl chr 5:137,243,270...137,246,852 		JBrowse link
G Muc4 mucin 4 disease_progression ISO protein:increased expression:bile duct RGD PMID:14752841 PMID:19082442 RGD:2324944, RGD:2303602 NCBI chr16:32,555,089...32,602,786
Ensembl chr16:32,555,015...32,602,754 		JBrowse link
G Muc5ac mucin 5, subtypes A and C, tracheobronchial/gastric disease_progression ISO mRNA:increased expression:bile duct
protein:increased expression:serum		 RGD PMID:11680592 PMID:14508831 RGD:2324948, RGD:2324990 NCBI chr 7:141,342,695...141,372,964
Ensembl chr 7:141,342,709...141,372,968 		JBrowse link
G Muc5b mucin 5, subtype B, tracheobronchial ISO mRNA:decreased expression:bile duct RGD PMID:11680592 RGD:2324948 NCBI chr 7:141,392,796...141,426,826
Ensembl chr 7:141,392,807...141,426,821 		JBrowse link
G Muc6 mucin 6, gastric ISO protein:increased expression: : RGD PMID:10209489 RGD:2325167 NCBI chr 7:141,212,404...141,241,659
Ensembl chr 7:141,213,373...141,241,641 		JBrowse link
G Nat2 N-acetyltransferase 2 (arylamine N-acetyltransferase) ISO DNA:polymorphisms (human) RGD PMID:15901993 RGD:2317172 NCBI chr 8:67,947,527...67,955,296
Ensembl chr 8:67,947,510...67,955,236 		JBrowse link
G Ncam1 neural cell adhesion molecule 1 ISO associated with hepatitis RGD PMID:12031086 RGD:2326079 NCBI chr 9:49,413,434...49,710,909
Ensembl chr 9:49,413,436...49,710,225 		JBrowse link
G Nos2 nitric oxide synthase 2, inducible ISO protein:increased expression:bile duct
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:16818635 PMID:16094703 RGD:2325280 NCBI chr11:78,811,613...78,851,052
Ensembl chr11:78,811,613...78,851,080 		JBrowse link
G Notch1 notch 1 ISO protein:increased expression:cholangiocyte RGD PMID:15887117 RGD:2325330 NCBI chr 2:26,347,914...26,393,834
Ensembl chr 2:26,347,915...26,406,675 		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 chr10:89,290,096...89,369,484
Ensembl chr10:89,290,096...89,369,447 		JBrowse link
G Ogg1 8-oxoguanine DNA-glycosylase 1 disease_progression ISO DNA:loss of heterozygosity (human) RGD PMID:11866974 PMID:11260864 RGD:2317134, RGD:2317136 NCBI chr 6:113,303,959...113,311,149
Ensembl chr 6:113,303,933...113,312,029 		JBrowse link
G Osbp2 oxysterol binding protein 2 ISO mRNA:increased expression:blood RGD PMID:21763455 RGD:41404644 NCBI chr11:3,653,731...3,814,000
Ensembl chr11:3,653,731...3,813,903 		JBrowse link
G Osbpl7 oxysterol binding protein-like 7 ISO mRNA:increased expression:blood RGD PMID:21763455 RGD:41404644 NCBI chr11:96,941,459...96,959,730
Ensembl chr11:96,941,454...96,959,730 		JBrowse link
G Panx2 pannexin 2 disease_progression ISO mRNA:altered expression:liver (human) RGD PMID:31687280 RGD:152998978 NCBI chr15:88,941,797...88,957,769
Ensembl chr15:88,943,937...88,957,770 		JBrowse link
G Pawr PRKC, apoptosis, WT1, regulator ISO mRNA,protein:decreased expression:cholangiocyte: RGD PMID:20724592 RGD:9835357 NCBI chr10:108,168,050...108,250,708
Ensembl chr10:108,167,982...108,250,101 		JBrowse link
G Pbrm1 polybromo 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24185509 NCBI chr14:30,741,095...30,843,549
Ensembl chr14:30,741,095...30,843,549 		JBrowse link
G Peg3 paternally expressed 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22561520 NCBI chr 7:6,706,891...6,733,443
Ensembl chr 7:6,706,891...6,733,430 		JBrowse link
G Pes1 pescadillo ribosomal biogenesis factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:34845814 NCBI chr11:3,913,975...3,930,004
Ensembl chr11:3,913,975...3,930,004 		JBrowse link
G Pir pirin disease_progression ISO mRNA:altered expression:liver (human) RGD PMID:31687280 RGD:152998978 NCBI chr  X:163,052,427...163,156,009
Ensembl chr  X:163,052,367...163,156,007 		JBrowse link
G Ppia peptidylprolyl isomerase A ameliorates ISO human cell line and construct in a mouse model RGD PMID:21871105 RGD:150429623 NCBI chr11:6,365,867...6,369,817
Ensembl chr11:6,365,443...6,369,817 		JBrowse link
G Ppp3ca protein phosphatase 3, catalytic subunit, alpha isoform disease_progression ISO mRNA:altered expression:liver (human) RGD PMID:31687280 RGD:152998978 NCBI chr 3:136,375,778...136,643,488
Ensembl chr 3:136,375,885...136,643,488 		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 1:11,063,496...11,373,907
Ensembl chr 1:11,063,689...11,373,905 		JBrowse link
G Prkaca protein kinase, cAMP dependent, catalytic, alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:26258846 NCBI chr 8:84,699,607...84,723,073
Ensembl chr 8:84,699,622...84,723,072 		JBrowse link
G Prkacb protein kinase, cAMP dependent, catalytic, beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:26258846 NCBI chr 3:146,435,334...146,518,691
Ensembl chr 3:146,435,329...146,518,745 		JBrowse link
G Prrg4 proline rich Gla (G-carboxyglutamic acid) 4 (transmembrane) disease_progression ISO mRNA:altered expression:liver (human) RGD PMID:31687280 RGD:152998978 NCBI chr 2:104,657,374...104,680,216
Ensembl chr 2:104,661,086...104,680,221 		JBrowse link
G Prss2 serine protease 2 ISO protein:increased expression:serum RGD PMID:8621252 RGD:2324908 NCBI chr 6:41,498,710...41,502,013
Ensembl chr 6:41,498,721...41,502,013 		JBrowse link
G Prss56 serine protease 56 disease_progression ISO mRNA:altered expression:liver (human) RGD PMID:31687280 RGD:152998978 NCBI chr 1:87,111,002...87,116,127
Ensembl chr 1:87,111,035...87,116,127 		JBrowse link
G Pten phosphatase and tensin homolog ISO
IMP		 CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:27022031 PMID:23376645 RGD:12802341 NCBI chr19:32,734,977...32,803,560
Ensembl chr19:32,734,897...32,803,560 		JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO 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 1:149,975,851...149,983,978
Ensembl chr 1:149,975,782...149,983,978 		JBrowse link
G Rassf8 Ras association (RalGDS/AF-6) domain family (N-terminal) member 8 disease_progression ISO mRNA:altered expression:liver (human) RGD PMID:31687280 RGD:152998978 NCBI chr 6:145,692,292...145,766,805
Ensembl chr 6:145,692,474...145,766,805 		JBrowse link
G Reg1 regenerating islet-derived 1 susceptibility ISO mRNA, protein:increased expression:liver (human) RGD PMID:11343228 RGD:10044031 NCBI chr 6:78,402,966...78,405,651
Ensembl chr 6:78,399,694...78,405,650 		JBrowse link
G Rnf39 ring finger protein 39 disease_progression ISO mRNA:altered expression:liver (human) RGD PMID:31687280 RGD:152998978 NCBI chr17:37,253,943...37,258,878
Ensembl chr17:37,253,810...37,258,878 		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 PMID:22561520 RGD:151361227 NCBI chr11:87,553,913...87,626,365
Ensembl chr11:87,553,548...87,626,365 		JBrowse link
G Robo2 roundabout guidance receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22561520 NCBI chr16:73,688,725...75,244,331
Ensembl chr16:73,688,727...74,889,765 		JBrowse link
G Runx3 runt related transcription factor 3 ISO protein:decreased expression:bile duct RGD PMID:19827872 RGD:2324955 NCBI chr 4:134,847,956...134,905,301
Ensembl chr 4:134,847,963...134,905,301 		JBrowse link
G Slc4a4 solute carrier family 4 (anion exchanger), member 4 disease_progression ISO mRNA:altered expression:liver (human) RGD PMID:31687280 RGD:152998978 NCBI chr 5:88,941,717...89,387,515
Ensembl chr 5:89,034,345...89,387,512 		JBrowse link
G Slc5a5 solute carrier family 5 (sodium iodide symporter), member 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17408651 NCBI chr 8:71,335,529...71,345,429
Ensembl chr 8:71,335,533...71,345,401 		JBrowse link
G Slc7a5 solute carrier family 7 (cationic amino acid transporter, y+ system), member 5 disease_progression
treatment		 ISO RGD PMID:25475870 PMID:28347255 PMID:24131658 RGD:151361214, RGD:151361294, RGD:151361287 NCBI chr 8:122,607,885...122,634,425
Ensembl chr 8:122,607,889...122,634,433 		JBrowse link
G Smad4 SMAD family member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22561520 NCBI chr18:73,767,861...73,836,862
Ensembl chr18:73,772,080...73,836,851 		JBrowse link
G Socs3 suppressor of cytokine signaling 3 severity ISO protein:decreased expression:bile duct (human) RGD PMID:26485275 RGD:11250478 NCBI chr11:117,856,905...117,860,192
Ensembl chr11:117,856,905...117,860,873 		JBrowse link
G Sox17 SRY (sex determining region Y)-box 17 severity ISO RGD PMID:20816680 RGD:4889598 NCBI chr 1:4,561,154...4,567,624
Ensembl chr 1:4,561,154...4,567,577 		JBrowse link
G Sox2 SRY (sex determining region Y)-box 2 disease_progression ISO mRNA:altered expression:liver (human) RGD PMID:31687280 RGD:152998978 NCBI chr 3:34,704,144...34,706,610
Ensembl chr 3:34,704,554...34,706,610 		JBrowse link
G Tgfb1 transforming growth factor, beta 1 disease_progression ISO protein:increased expression:pancreas RGD PMID:16083599 PMID:12632524 RGD:2325020, RGD:1299231 NCBI chr 7:25,386,406...25,404,503
Ensembl chr 7:25,386,427...25,404,502 		JBrowse link
G Tgfbr2 transforming growth factor, beta receptor II ISO mRNA:increased expression:bile duct RGD PMID:12632524 RGD:1299231 NCBI chr 9:115,916,763...116,004,431
Ensembl chr 9:115,913,361...116,004,428 		JBrowse link
G Thbs1 thrombospondin 1 disease_progression ISO DNA:hypermethylation (human) RGD PMID:11927969 PMID:12213730 PMID:16465407 RGD:2325027, RGD:2325026, RGD:2325024 NCBI chr 2:117,942,357...117,957,614
Ensembl chr 2:117,942,357...117,957,614 		JBrowse link
G Tnc tenascin C severity ISO RGD PMID:20816680 RGD:4889598 NCBI chr 4:63,878,022...63,965,554
Ensembl chr 4:63,878,022...63,965,252 		JBrowse link
G Tnfaip3 tumor necrosis factor, alpha-induced protein 3 severity ISO protein:increased expression:bile duct (human) RGD PMID:26485275 RGD:11250478 NCBI chr10:18,876,658...18,891,158
Ensembl chr10:18,876,658...18,891,405 		JBrowse link
G Trp53 transformation related protein 53 ISO
EXP		 CTD Direct Evidence: marker/mechanism CTD PMID:16818635 PMID:22561520 NCBI chr11:69,471,174...69,482,699
Ensembl chr11:69,471,185...69,482,699 		JBrowse link
G Ttr transthyretin ISO protein:decreased expression:blood serum (human) RGD PMID:18275060 RGD:151660506 NCBI chr18:20,797,266...20,807,383
Ensembl chr18:20,798,337...20,807,378 		JBrowse link
G Ugt1a9 UDP glucuronosyltransferase 1 family, polypeptide A9 ISO RGD PMID:9230212 RGD:2325161 NCBI chr 1:87,998,501...88,147,724
Ensembl chr 1:87,998,522...88,146,719 		JBrowse link
G Vegfa vascular endothelial growth factor A ISO ClinVar Annotator: match by term: Cholangiocarcinoma ClinVar PMID:18550579 NCBI chr17:46,327,919...46,343,303
Ensembl chr17:46,327,919...46,343,295 		JBrowse link
G Wdhd1 WD repeat and HMG-box DNA binding protein 1 ameliorates ISO RGD PMID:30314946 RGD:156420141 NCBI chr14:47,478,401...47,514,352
Ensembl chr14:47,478,401...47,514,314 		JBrowse link
G Wnt9a wingless-type MMTV integration site family, member 9A disease_progression ISO mRNA:altered expression:liver (human) RGD PMID:31687280 RGD:152998978 NCBI chr11:59,197,675...59,224,378
Ensembl chr11:59,197,754...59,224,378 		JBrowse link
common bile duct neoplasm term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apob apolipoprotein B ISO protein:increased expression:serum RGD PMID:18076041 RGD:2325763 NCBI chr12:8,027,629...8,066,839
Ensembl chr12:8,027,648...8,066,835 		JBrowse link
G Fscn1 fascin actin-bundling protein 1 ISO mRNA, protein:increased expression: : RGD PMID:15136764 RGD:2317789 NCBI chr 5:142,946,110...142,958,944
Ensembl chr 5:142,946,098...142,958,940 		JBrowse link
G Msln mesothelin ISO protein:increased expression:common bile duct, ampulla of vater RGD PMID:16416732 RGD:2326064 NCBI chr17:25,967,587...25,973,352
Ensembl chr17:25,967,587...25,973,352 		JBrowse link
G Mtap methylthioadenosine phosphorylase ISO DNA, protein:deletion, decreased expression:common bile duct: RGD PMID:15662124 RGD:2317954 NCBI chr 4:89,055,607...89,099,327
Ensembl chr 4:89,055,359...89,099,318 		JBrowse link
G Muc1 mucin 1, transmembrane disease_progression ISO protein:increased expression:bile duct RGD PMID:8766528 RGD:2324856 NCBI chr 3:89,136,363...89,140,688
Ensembl chr 3:89,136,364...89,140,688 		JBrowse link
G Muc4 mucin 4 ISO protein:increased expression:pancreas RGD PMID:8143972 RGD:2324890 NCBI chr16:32,555,089...32,602,786
Ensembl chr16:32,555,015...32,602,754 		JBrowse link
G Muc5ac mucin 5, subtypes A and C, tracheobronchial/gastric ISO protein:altered expression:pancreas RGD PMID:8143972 RGD:2324890 NCBI chr 7:141,342,695...141,372,964
Ensembl chr 7:141,342,709...141,372,968 		JBrowse link
G Tymp thymidine phosphorylase disease_progression ISO RGD PMID:10760693 RGD:2325158 NCBI chr15:89,255,834...89,261,282
Ensembl chr15:89,256,134...89,261,242 		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 chr14:30,973,358...30,981,887
Ensembl chr14:30,973,407...30,981,901 		JBrowse link
G Pbrm1 polybromo 1 disease_progression ISO RGD PMID:25536104 RGD:150340631 NCBI chr14:30,741,095...30,843,549
Ensembl chr14:30,741,095...30,843,549 		JBrowse link
G Rac1 Rac family small GTPase 1 ISO protein:increased expression:mucosa (human) RGD PMID:21537609 RGD:153350126 NCBI chr 5:143,491,236...143,513,786
Ensembl chr 5:143,489,389...143,513,791 		JBrowse link
G Slc7a5 solute carrier family 7 (cationic amino acid transporter, y+ system), member 5 disease_progression ISO RGD PMID:24890221 RGD:151361210 NCBI chr 8:122,607,885...122,634,425
Ensembl chr 8:122,607,889...122,634,433 		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 chr17:24,767,657...24,815,457
Ensembl chr17:24,768,808...24,815,482 		JBrowse link
G Pold1 polymerase (DNA directed), delta 1, catalytic subunit ISO ClinVar Annotator: match by term: Extrahepatic bile duct cancer ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 7:44,182,168...44,198,239
Ensembl chr 7:44,182,170...44,198,273 		JBrowse link
G Xpo1 exportin 1 disease_progression ISO protein:increased expression:extrahepatic bile duct (human) RGD PMID:27279267 RGD:151665800 NCBI chr11:23,205,768...23,248,250
Ensembl chr11:23,206,055...23,248,249 		JBrowse link
intrahepatic cholangiocarcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apc APC, WNT signaling pathway regulator ISO ClinVar Annotator: match by term: Intrahepatic cholangiocarcinoma ClinVar PMID:24728327 PMID:25479140 PMID:25741868 PMID:26467025 PMID:26530882 More... NCBI chr18:34,353,350...34,455,243
Ensembl chr18:34,353,977...34,455,605 		JBrowse link
G Arid1a AT-rich interaction domain 1A disease_progression
exacerbates		 ISO mRNA,protein:decreased expression:intrahepatic bile duct (human) RGD PMID:30849962 PMID:27433094 PMID:31665232 RGD:14974231, RGD:126775257, RGD:126781775 NCBI chr 4:133,406,319...133,484,682
Ensembl chr 4:133,406,319...133,484,080 		JBrowse link
G Bap1 Brca1 associated protein 1 disease_progression ISO RGD PMID:27864835 RGD:150340628 NCBI chr14:30,973,358...30,981,887
Ensembl chr14:30,973,407...30,981,901 		JBrowse link
G Becn1 beclin 1, autophagy related disease_progression ISO RGD PMID:30849962 RGD:14974231 NCBI chr11:101,179,084...101,193,112
Ensembl chr11:101,176,778...101,193,112 		JBrowse link
G Braf Braf transforming gene severity IAGP DNA:missense mutation:cds:p.V600E (human) RGD PMID:24139215 RGD:14398746 NCBI chr 6:39,580,171...39,702,592
Ensembl chr 6:39,580,171...39,702,397 		JBrowse link
G Fas Fas cell surface death receptor disease_progression ISO RGD PMID:11003620 RGD:14700701 NCBI chr19:34,267,926...34,305,175
Ensembl chr19:34,268,066...34,305,172 		JBrowse link
G Fasl Fas ligand severity ISO RGD PMID:11003620 RGD:14700701 NCBI chr 1:161,608,260...161,616,064
Ensembl chr 1:161,608,258...161,616,064 		JBrowse link
G Foxp3 forkhead box P3 ISO DNA:hypomethylation:liver RGD PMID:24291052 RGD:38599002 NCBI chr  X:7,445,915...7,461,482
Ensembl chr  X:7,439,883...7,461,484 		JBrowse link
G Hsp90aa1 heat shock protein 90, alpha (cytosolic), class A member 1 disease_progression ISO protein:increased expression:liver (human) RGD PMID:24796583 RGD:152177907 NCBI chr12:110,657,470...110,662,829
Ensembl chr12:110,657,039...110,669,162 		JBrowse link
G Hsp90ab1 heat shock protein 90 alpha (cytosolic), class B member 1 disease_progression ISO protein:increased expression:liver (human) RGD PMID:24796583 RGD:152177907 NCBI chr17:45,878,704...45,884,187
Ensembl chr17:45,878,701...45,884,197 		JBrowse link
G Idh1 isocitrate dehydrogenase 1 (NADP+), soluble no_association ISO DNA:misssense mutations:cds:p.Arg132Cys,Arg132Leu (human) RGD PMID:26245674 RGD:14974229 NCBI chr 1:65,197,775...65,225,638
Ensembl chr 1:65,197,775...65,225,659 		JBrowse link
G Idh2 isocitrate dehydrogenase 2 (NADP+), mitochondrial disease_progression ISO
IEP		 DNA:mutations: :
mRNA:decreased expression:liver (mouse)		 RGD PMID:22824796 PMID:32463951 RGD:14985256, RGD:149735894 NCBI chr 7:79,744,594...79,768,356
Ensembl chr 7:79,744,594...79,765,140 		JBrowse link
G Kdm5c lysine demethylase 5C exacerbates ISO protein:decreased expression:bile duct (human) RGD PMID:32714863 RGD:151361175 NCBI chr  X:151,015,698...151,062,098
Ensembl chr  X:151,016,016...151,057,531 		JBrowse link
G Kras Kirsten rat sarcoma viral oncogene homolog disease_progression IAGP
ISO		 DNA:mutations:: MouseDO
RGD		 PMID:24139215 RGD:14398746 NCBI chr 6:145,162,425...145,197,631
Ensembl chr 6:145,162,425...145,195,965 		JBrowse link
G Lcn2 lipocalin 2 treatment ISO Protein:increased expression:bile duct RGD PMID:24939880 PMID:24939880 RGD:126790491, RGD:126790491 NCBI chr 2:32,274,649...32,277,751
Ensembl chr 2:32,274,645...32,278,264 		JBrowse link
G Lrp1b low density lipoprotein-related protein 1B exacerbates ISO DNA:mutations:multiple: (human) RGD PMID:33014052 RGD:150429786 NCBI chr 2:40,485,302...42,543,747
Ensembl chr 2:40,485,258...42,543,636 		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 6:93,652,434...94,260,906
Ensembl chr 6:93,652,436...94,260,898 		JBrowse link
G Mir152 microRNA 152 ISO miRNA:decreased expression:intrahepatic bile duct RGD PMID:28921383 RGD:19165148 NCBI chr11:96,741,219...96,741,291
Ensembl chr11:96,741,219...96,741,291 		JBrowse link
G Mir200b microRNA 200b ISO RNA:increased expression:liver RGD PMID:27685844 RGD:14928335 NCBI chr 4:156,140,138...156,140,207
Ensembl chr 4:156,140,138...156,140,207 		JBrowse link
G Mir21a microRNA 21a ISO RNA:increased expression:liver,plasma RGD PMID:27685844 RGD:14928335 NCBI chr11:86,474,893...86,474,984
Ensembl chr11:86,474,893...86,474,984 		JBrowse link
G Mir221 microRNA 221 severity ISO RGD PMID:27685844 RGD:14928335 NCBI chr  X:19,012,533...19,012,627
Ensembl chr  X:19,012,533...19,012,627 		JBrowse link
G Pbrm1 polybromo 1 disease_progression ISO protein:increased expression:intrahepatic bile duct (human) RGD PMID:30377796 PMID:27864835 RGD:152998946, RGD:150340628 NCBI chr14:30,741,095...30,843,549
Ensembl chr14:30,741,095...30,843,549 		JBrowse link
G Pten phosphatase and tensin homolog disease_progression ISO protein:decreased expression:liver (human) RGD PMID:24796583 RGD:152177907 NCBI chr19:32,734,977...32,803,560
Ensembl chr19:32,734,897...32,803,560 		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 chr11:87,553,913...87,626,365
Ensembl chr11:87,553,548...87,626,365 		JBrowse link
G Runx1 runt related transcription factor 1 ISO mRNA:increased expression:intrahepatic bile duct RGD PMID:31015363 RGD:126775143 NCBI chr16:92,398,354...92,622,962
Ensembl chr16:92,398,354...92,623,037 		JBrowse link
G S100b S100 protein, beta polypeptide, neural disease_progression ISO protein:increased expression:intrahepatic bile duct (human) RGD PMID:30377796 RGD:152998946 NCBI chr10:76,089,670...76,097,153
Ensembl chr10:76,089,687...76,096,993 		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 chr18:73,767,861...73,836,862
Ensembl chr18:73,772,080...73,836,851 		JBrowse link
G Tep1 telomerase associated protein 1 ISO mRNA:increased expression:hepatocyte,biliary epithelium. RGD PMID:10498642 RGD:152977753 NCBI chr14:51,061,513...51,108,036
Ensembl chr14:51,061,516...51,108,017 		JBrowse link
G Terc telomerase RNA component ISO RNA:increased expression:hepatocyte,biliary epithelium. RGD PMID:10498642 RGD:152977753 NCBI chr 3:96,321,753...96,322,149
Ensembl chr 3:96,321,753...96,322,149 		JBrowse link
Klatskin's tumor term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apc APC, WNT signaling pathway regulator ISO ClinVar Annotator: match by term: Klatskin tumor ClinVar PMID:25741868 PMID:28492532 NCBI chr18:34,353,350...34,455,243
Ensembl chr18:34,353,977...34,455,605 		JBrowse link
G Arid1a AT-rich interaction domain 1A disease_progression ISO DNA:deletions RGD PMID:33387086 RGD:126848756 NCBI chr 4:133,406,319...133,484,682
Ensembl chr 4:133,406,319...133,484,080 		JBrowse link
G Gata6 GATA binding protein 6 sexual_dimorphism ISO DNA:mutations RGD PMID:33387086 RGD:126848756 NCBI chr18:11,052,510...11,085,636
Ensembl chr18:11,052,064...11,085,635 		JBrowse link
G Kmt2c lysine (K)-specific methyltransferase 2C onset ISO DNA:mutations RGD PMID:33387086 RGD:126848756 NCBI chr 5:25,476,793...25,703,853
Ensembl chr 5:25,476,796...25,703,781 		JBrowse link
G Kras Kirsten rat sarcoma viral oncogene homolog disease_progression ISO DNA:mutations RGD PMID:33387086 RGD:126848756 NCBI chr 6:145,162,425...145,197,631
Ensembl chr 6:145,162,425...145,195,965 		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 PMID:33387086 RGD:126848756, RGD:126848756 NCBI chr 1:11,063,496...11,373,907
Ensembl chr 1:11,063,689...11,373,905 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16263
    disease of anatomical entity 15855
      gastrointestinal system disease 6883
        hepatobiliary disease 3105
          biliary tract disease 555
            biliary tract benign neoplasm 155
              Bile Duct Neoplasms 152
                bile duct adenoma + 1
                bile duct cancer + 150
                biliary papillomatosis + 0
                common bile duct neoplasm + 8
                extrahepatic bile duct leiomyoma 0
                extrahepatic bile duct lipoma 0
Path 2
Term Annotations click to browse term
  disease 16263
    disease of anatomical entity 15855
      gastrointestinal system disease 6883
        Digestive System Neoplasms 3835
          Gastrointestinal Neoplasms 3711
            gastrointestinal system benign neoplasm 233
              hepatobiliary benign neoplasm 183
                biliary tract benign neoplasm 155
                  Bile Duct Neoplasms 152
                    bile duct adenoma + 1
                    bile duct cancer + 150
                    biliary papillomatosis + 0
                    common bile duct neoplasm + 8
                    extrahepatic bile duct leiomyoma 0
                    extrahepatic bile duct lipoma 0
paths to the root