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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:hepatobiliary benign neoplasm
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Accession:DOID:3117 term browser browse the term
Definition:A gastrointestinal system benign neoplasm located_in the hepatobiliary system. (DO)
Synonyms:exact_synonym: hepatobiliary tumors
 xref: EFO:0008550;   NCI:C8614
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
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 chr19:66,843,808...66,872,412
Ensembl chr19:66,843,808...66,872,412 		JBrowse link
bile duct adenoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Braf B-Raf proto-oncogene, serine/threonine kinase IAGP DNA:missense mutation:cds:p.V600E (human) RGD PMID:25704541 RGD:11521169 NCBI chr 4:69,329,772...69,476,931
Ensembl chr 4:69,342,813...69,476,931 		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 chr 6:36,563,704...36,603,300
Ensembl chr 6:36,563,704...36,611,814 		JBrowse link
G Apoe apolipoprotein E susceptibility ISO DNA:SNP:intron:rs440446 (human) RGD PMID:18296645 RGD:2317550 NCBI chr 1:88,481,889...88,485,816
Ensembl chr 1:88,481,385...88,485,855 		JBrowse link
G Atm ATM serine/threonine kinase ISO ClinVar Annotator: match by term: Bile duct cancer ClinVar PMID:9887333 PMID:17124347 PMID:20077034 PMID:25741868 PMID:26635394 More... NCBI chr 8:62,724,939...62,829,040
Ensembl chr 8:62,727,291...62,828,629 		JBrowse link
G Mir31 microRNA 31 exacerbates ISO RNA:increased expression:bile duct (human) RGD PMID:29860474 RGD:152998990 NCBI chr 5:108,714,849...108,714,954 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 8:120,074,871...120,112,109
Ensembl chr 8:120,065,900...120,112,011 		JBrowse link
G Msh2 mutS homolog 2 ISO ClinVar Annotator: match by term: Bile duct cancer ClinVar PMID:25741868 PMID:33357406 NCBI chr 6:12,567,368...12,626,534
Ensembl chr 6:12,567,368...12,626,503 		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 1:186,096,312...186,120,284
Ensembl chr 1:186,096,312...186,120,302 		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 chr10:14,077,733...14,125,682
Ensembl chr10:14,078,679...14,125,681 		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 chr 1:104,161,984...104,178,074
Ensembl chr 1:104,162,016...104,172,982 		JBrowse link
G Stk11 serine/threonine kinase 11 ISO ClinVar Annotator: match by term: Bile duct cancer ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:10,225,204...10,241,965
Ensembl chr 7:10,225,204...10,241,965 		JBrowse link
G Tjp1 tight junction protein 1 ISO protein:decreased expression:bile duct RGD PMID:19184677 RGD:2325030 NCBI chr 1:128,260,330...128,505,018
Ensembl chr 1:128,260,330...128,505,158 		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 chr10:15,276,489...15,285,921
Ensembl chr10:15,275,659...15,282,153 		JBrowse link
G Slc7a5 solute carrier family 7 member 5 disease_progression ISO RGD PMID:24890221 RGD:151361210 NCBI chr19:66,843,808...66,872,412
Ensembl chr19:66,843,808...66,872,412 		JBrowse link
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 5:27,398,933...27,611,519
Ensembl chr 5:27,398,949...27,611,215 		JBrowse link
G Egfr epidermal growth factor receptor ISO CTD Direct Evidence: therapeutic CTD PMID:17341899 NCBI chr14:95,378,626...95,551,358
Ensembl chr14:95,378,626...95,551,358 		JBrowse link
G Fscn1 fascin actin-bundling protein 1 disease_progression ISO protein:increased expression:bile duct RGD PMID:17419223 RGD:2317786 NCBI chr12:16,710,601...16,723,734
Ensembl chr12:16,710,601...16,723,734 		JBrowse link
G Il6 interleukin 6 disease_progression ISO protein:increased expression:serum RGD PMID:17617204 RGD:2317166 NCBI chr 4:5,889,999...5,894,575
Ensembl chr 4:5,889,999...5,894,610 		JBrowse link
G Met MET proto-oncogene, receptor tyrosine kinase ISO protein:increased expression:intrahepatic bile duct (human) RGD PMID:15892172 RGD:2317585 NCBI chr 4:46,756,823...46,864,041
Ensembl chr 4:46,756,506...46,870,821 		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 1:201,140,832...201,367,481
Ensembl chr 1:201,140,661...201,367,482 		JBrowse link
G Mki67 marker of proliferation Ki-67 disease_progression ISO RGD PMID:9869516 RGD:2317706 NCBI chr 1:199,926,150...199,952,847
Ensembl chr 1:199,926,150...199,952,593 		JBrowse link
G Muc16 mucin 16, cell surface associated ISO protein:increased expression:serum,bile RGD PMID:1657243 RGD:2325134 NCBI chr 8:24,440,840...24,644,494 JBrowse link
G Muc4 mucin 4, cell surface associated disease_progression ISO protein:increased expression:bile duct RGD PMID:16857800 RGD:2324929 NCBI chr11:81,513,321...81,575,200 JBrowse link
G Ncam1 neural cell adhesion molecule 1 disease_progression ISO RGD PMID:8501910 PMID:9851639 RGD:2326077, RGD:2326076 NCBI chr 8:58,762,088...59,062,131
Ensembl chr 8:58,762,116...59,061,971 		JBrowse link
G Runx3 RUNX family transcription factor 3 ISO DNA:hypermethylation:promoter RGD PMID:15471559 RGD:2324957 NCBI chr 5:152,644,270...152,702,835
Ensembl chr 5:152,644,270...152,702,835 		JBrowse link
biliary tract benign neoplasm term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alb albumin disease_progression ISO RGD PMID:20358256 RGD:2325676 NCBI chr14:17,891,564...17,907,043
Ensembl chr14:17,891,582...17,911,865 		JBrowse link
G Ctps1 CTP synthase 1 ISO mRNA:increased expression:biliary tract neoplasm (human) RGD PMID:12819026 RGD:2317903 NCBI chr 5:139,372,349...139,440,441
Ensembl chr 5:139,410,249...139,440,465 		JBrowse link
G Elf3 E74 like ETS transcription factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26258846 NCBI chr13:49,242,265...49,247,102
Ensembl chr13:49,242,267...49,247,380 		JBrowse link
G Faslg Fas ligand ISO protein:decreased expression:serum
associated with Biliary Tract Disease;protein:decreased expression:serum 		RGD PMID:15138553 PMID:15287856 RGD:2317743, RGD:2317742 NCBI chr13:76,680,885...76,706,042
Ensembl chr13:76,688,243...76,695,503 		JBrowse link
G Hgf hepatocyte growth factor ISO mRNA:increased expression: : RGD PMID:12819026 RGD:2317903 NCBI chr 4:19,628,902...19,700,467
Ensembl chr 4:19,632,267...19,700,851 		JBrowse link
G Il4 interleukin 4 ISO RGD PMID:18798553 RGD:2317263 NCBI chr10:38,272,003...38,277,549
Ensembl chr10:38,272,003...38,277,549 		JBrowse link
G Il6 interleukin 6 ISO RGD PMID:18159174 RGD:2317165 NCBI chr 4:5,889,999...5,894,575
Ensembl chr 4:5,889,999...5,894,610 		JBrowse link
G Mdm2 MDM2 proto-oncogene ISO protein:increased expression:biliary epithelium (human) RGD PMID:16505435 RGD:2317415 NCBI chr 7:55,176,558...55,201,757
Ensembl chr 7:55,176,560...55,200,791 		JBrowse link
G Mtap methylthioadenosine phosphorylase ISO RGD PMID:16373701 RGD:2317953 NCBI chr 5:108,990,270...109,036,494
Ensembl chr 5:108,988,830...109,055,214 		JBrowse link
G Muc1 mucin 1, cell surface associated ISO RGD PMID:19129927 RGD:2317987 NCBI chr 2:176,933,312...176,938,497
Ensembl chr 2:176,933,047...176,938,491 		JBrowse link
G Muc4 mucin 4, cell surface associated ISO protein:increased expression:bile,biliary tract RGD PMID:18475301 RGD:2324916 NCBI chr11:81,513,321...81,575,200 JBrowse link
G Muc5ac mucin 5AC, oligomeric mucus/gel-forming disease_progression ISO protein:increased expression:serum RGD PMID:18475301 RGD:2324916 NCBI chr 1:206,293,717...206,326,006
Ensembl chr 1:206,293,869...206,326,006 		JBrowse link
G Prkacb protein kinase cAMP-activated catalytic subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:26258846 NCBI chr 2:238,297,140...238,389,317
Ensembl chr 2:238,300,127...238,386,315 		JBrowse link
cholangiocarcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc2 ATP binding cassette subfamily C member 2 susceptibility ISO DNA:polymorphism:exon:c.3972C>T (human) RGD PMID:19451719 RGD:2317508 NCBI chr 1:252,613,875...252,672,459
Ensembl chr 1:252,614,017...252,673,471 		JBrowse link
G Adrb2 adrenoceptor beta 2 ISO protein:decreased expression:liver RGD PMID:16292515 RGD:2325640 NCBI chr18:57,912,760...57,914,802
Ensembl chr18:57,911,348...57,914,803 		JBrowse link
G Alb albumin disease_progression ISO RGD PMID:10776430 PMID:17545000 PMID:20431764 RGD:2325682, RGD:2325680, RGD:2325679 NCBI chr14:17,891,564...17,907,043
Ensembl chr14:17,891,582...17,911,865 		JBrowse link
G Alox5 arachidonate 5-lipoxygenase ISO protein:increased expression:bile duct RGD PMID:18507031 RGD:2317521 NCBI chr 4:151,203,948...151,251,126
Ensembl chr 4:151,203,949...151,251,126 		JBrowse link
G Anxa2 annexin A2 disease_progression ISO RGD PMID:20493868 RGD:2325728 NCBI chr 8:78,986,252...79,022,638
Ensembl chr 8:78,986,242...79,022,631 		JBrowse link
G Anxa8 annexin A8 ISO RGD PMID:19376120 RGD:2325733 NCBI chr16:9,403,267...9,418,317
Ensembl chr16:9,403,353...9,418,310 		JBrowse link
G Apc APC regulator of WNT signaling pathway ISO DNA:hypermethylation:promoter
DNA:loss of heterozygosity 		RGD PMID:15467712 PMID:10212000 RGD:2317198, RGD:2317205 NCBI chr18:26,138,382...26,196,021
Ensembl chr18:26,102,679...26,197,022 		JBrowse link
G Apoa1 apolipoprotein A1 ISO protein:decreased expression:serum RGD PMID:19486127 RGD:2325756 NCBI chr 8:55,423,945...55,425,729
Ensembl chr 8:55,423,825...55,425,729 		JBrowse link
G Arid1a AT-rich interaction domain 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:24185509 NCBI chr 5:151,192,014...151,269,291
Ensembl chr 5:151,192,014...151,265,386 		JBrowse link
G Asph aspartate-beta-hydroxylase ISO RGD PMID:21898484 RGD:6902945 NCBI chr 5:27,398,933...27,611,519
Ensembl chr 5:27,398,949...27,611,215 		JBrowse link
G Atg101 autophagy related 101 disease_progression ISO RGD PMID:35592424 RGD:153350091 NCBI chr 7:134,277,223...134,286,387
Ensembl chr 7:134,272,847...134,286,379 		JBrowse link
G Bap1 BRCA1 associated deubiquitinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24185509 PMID:25231345 NCBI chr16:6,453,126...6,461,952
Ensembl chr16:6,452,974...6,461,952 		JBrowse link
G Birc6 baculoviral IAP repeat-containing 6 ameliorates ISO mRNA:increased expression:bile duct (human) RGD PMID:31964418 RGD:153344516 NCBI chr 6:26,474,843...26,668,275
Ensembl chr 6:26,474,843...26,668,507 		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 4:69,329,772...69,476,931
Ensembl chr 4:69,342,813...69,476,931 		JBrowse link
G Cdkn2a cyclin-dependent kinase inhibitor 2A onset ISO protein:decreased expression:liver RGD PMID:15619210 RGD:2317417 NCBI chr 5:109,100,763...109,114,448
Ensembl chr 5:109,100,772...109,119,248 		JBrowse link
G Cxcr1 C-X-C motif chemokine receptor 1 ISO ClinVar Annotator: match by term: Cholangiocarcinoma ClinVar PMID:18550579 NCBI chr 9:83,216,040...83,220,225
Ensembl chr 9:83,215,292...83,226,872 		JBrowse link
G Cycs cytochrome c, somatic ISO RGD PMID:19788692 RGD:2317615 NCBI chr 4:80,982,667...80,984,767
Ensembl chr 4:80,982,668...80,984,816
Ensembl chr18:80,982,668...80,984,816 		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 3:179,694,647...179,709,083
Ensembl chr 3:179,694,647...179,709,083 		JBrowse link
G Egf epidermal growth factor ISO ClinVar Annotator: match by term: Cholangiocarcinoma ClinVar PMID:18550579 PMID:25741868 PMID:28492532 NCBI chr 2:220,893,660...220,976,331
Ensembl chr 2:220,893,660...220,976,297 		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 chr14:95,378,626...95,551,358
Ensembl chr14:95,378,626...95,551,358 		JBrowse link
G Epo erythropoietin IEP mRNA, protein:increased expression:liver RGD PMID:23052842 RGD:10400912 NCBI chr12:24,841,285...24,844,725
Ensembl chr12:24,841,285...24,844,725 		JBrowse link
G Epor erythropoietin receptor IEP mRNA, protein:increased expression:liver RGD PMID:23052842 RGD:10400912 NCBI chr 8:28,765,738...28,770,371
Ensembl chr 8:28,765,746...28,770,322 		JBrowse link
G Erbb2 erb-b2 receptor tyrosine kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16818635 NCBI chr10:83,907,491...83,931,365
Ensembl chr10:83,907,460...83,931,481 		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 4:77,624,223...77,698,598
Ensembl chr 4:77,624,223...77,687,183 		JBrowse link
G Faslg Fas ligand ISO RGD PMID:11029528 RGD:2317746 NCBI chr13:76,680,885...76,706,042
Ensembl chr13:76,688,243...76,695,503 		JBrowse link
G Fgf2 fibroblast growth factor 2 ISO protein:increased expression:bile RGD PMID:11478488 RGD:2317765 NCBI chr 2:122,164,454...122,218,796
Ensembl chr 2:122,164,454...122,224,493 		JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26258846 NCBI chr 1:194,175,703...194,280,914
Ensembl chr 1:194,175,705...194,280,914 		JBrowse link
G Fscn1 fascin actin-bundling protein 1 disease_progression ISO protein:increased expression:bile ducts RGD PMID:19721413 RGD:2317780 NCBI chr12:16,710,601...16,723,734
Ensembl chr12:16,710,601...16,723,734 		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 3:183,489,648...183,554,570
Ensembl chr 3:183,503,243...183,554,536 		JBrowse link
G Gstm1 glutathione S-transferase mu 1 ISO RGD PMID:24049014 RGD:14700980 NCBI chr 2:198,338,005...198,346,007
Ensembl chr 2:198,338,008...198,343,569 		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 chr 1:210,767,237...210,770,242
Ensembl chr 1:210,767,237...210,769,705 		JBrowse link
G Hdac6 histone deacetylase 6 ISO protein:increased expression:liver: RGD PMID:23370327 RGD:9681560 NCBI chr  X:17,222,538...17,244,373
Ensembl chr  X:17,222,856...17,244,370 		JBrowse link
G Hgf hepatocyte growth factor IEP
ISO 		mRNA, protein:increased expression: :
protein:increased expression:serum 		RGD PMID:10827151 PMID:16974053 RGD:2317925, RGD:2317909 NCBI chr 4:19,628,902...19,700,467
Ensembl chr 4:19,632,267...19,700,851 		JBrowse link
G Hnf1b HNF1 homeobox B ISO CTD Direct Evidence: marker/mechanism CTD PMID:39887605 NCBI chr10:69,233,377...69,287,360
Ensembl chr10:69,233,131...69,287,361 		JBrowse link
G Idh1 isocitrate dehydrogenase (NADP(+)) 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24185509 NCBI chr 9:74,027,887...74,057,442
Ensembl chr 9:74,027,892...74,049,555 		JBrowse link
G Idh2 isocitrate dehydrogenase (NADP(+)) 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24185509 NCBI chr 1:143,447,925...143,467,248
Ensembl chr 1:143,439,323...143,467,248 		JBrowse link
G Il1b interleukin 1 beta ISO ClinVar Annotator: match by term: Cholangiocarcinoma ClinVar PMID:18550579 NCBI chr 3:137,030,200...137,036,581
Ensembl chr 3:137,030,205...137,036,601 		JBrowse link
G Il1r2 interleukin 1 receptor type 2 disease_progression ISO mRNA:altered expression:liver (human) RGD PMID:31687280 RGD:152998978 NCBI chr 9:49,879,928...49,920,374
Ensembl chr 9:49,877,266...49,920,374 		JBrowse link
G Il4r interleukin 4 receptor ISO mRNA:increased expression:bile duct RGD PMID:18798553 RGD:2317263 NCBI chr 1:189,545,739...189,570,639
Ensembl chr 1:189,544,988...189,570,636 		JBrowse link
G Il6 interleukin 6 ISO protein:increased expression:serum
CTD Direct Evidence: marker/mechanism 		CTD
RGD		 PMID:17621267 PMID:15011822 PMID:28925763 RGD:2317167, RGD:14975292 NCBI chr 4:5,889,999...5,894,575
Ensembl chr 4:5,889,999...5,894,610 		JBrowse link
G Ins2 insulin 2 disease_progression ISO mRNA:altered expression:liver (human) RGD PMID:31687280 RGD:152998978 NCBI chr 1:207,272,738...207,421,998
Ensembl chr 1:207,272,742...207,273,805 		JBrowse link
G Kcnd2 potassium voltage-gated channel subfamily D member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:34418280 NCBI chr 4:50,741,595...51,243,540
Ensembl chr 4:50,742,839...51,243,522 		JBrowse link
G Kit KIT proto-oncogene receptor tyrosine kinase disease_progression ISO mRNA:altered expression:liver (human) RGD PMID:31687280 RGD:152998978 NCBI chr14:32,901,615...32,978,895
Ensembl chr14:32,903,033...32,978,812 		JBrowse link
G Kmt2c lysine methyltransferase 2C ISO CTD Direct Evidence: marker/mechanism CTD PMID:22561520 NCBI chr 4:10,353,698...10,755,965
Ensembl chr 4:10,353,735...10,568,620 		JBrowse link
G Kras KRAS proto-oncogene, GTPase ISO CTD Direct Evidence: marker/mechanism CTD PMID:8968066 PMID:22561520 NCBI chr 4:179,916,255...179,949,613
Ensembl chr 4:179,919,802...179,949,320 		JBrowse link
G Krt7 keratin 7 ISO RGD PMID:18393293 RGD:2317308 NCBI chr 7:134,407,626...134,423,787
Ensembl chr 7:134,407,584...134,423,786 		JBrowse link
G Mdm2 MDM2 proto-oncogene disease_progression ISO protein:increased expression:intrahepatic bile duct (human) RGD PMID:15619210 RGD:2317417 NCBI chr 7:55,176,558...55,201,757
Ensembl chr 7:55,176,560...55,200,791 		JBrowse link
G Met MET proto-oncogene, receptor tyrosine kinase disease_progression IEP
ISO 		protein:increased expression:liver, biliary epithelium (rat)
protein:increased phosphorylation:liver, carcinoma (human) 		RGD PMID:14656942 PMID:16818635 RGD:2317601, RGD:2317578 NCBI chr 4:46,756,823...46,864,041
Ensembl chr 4:46,756,506...46,870,821 		JBrowse link
G Mfsd4a major facilitator superfamily domain containing 4A disease_progression ISO mRNA:altered expression:liver (human) RGD PMID:31687280 RGD:152998978 NCBI chr13:46,015,321...46,062,633
Ensembl chr13:46,021,659...46,062,633 		JBrowse link
G Mgmt O-6-methylguanine-DNA methyltransferase ISO DNA:hypermethylation:promoter (human) RGD PMID:17550320 RGD:2317632 NCBI chr 1:201,140,832...201,367,481
Ensembl chr 1:201,140,661...201,367,482 		JBrowse link
G Mir155 microRNA 155 ISO miRNA:increased expression:serum RGD PMID:30653586 RGD:21081530 NCBI chr11:37,261,114...37,261,178
Ensembl chr11:37,261,114...37,261,178 		JBrowse link
G Mir192 microRNA 192 ISO RNA:increased expression:urine RGD PMID:26456596 RGD:41404678 NCBI chr 1:212,994,209...212,994,318
Ensembl chr 1:212,994,209...212,994,318 		JBrowse link
G Mir21 microRNA 21 ISO RNA:increased expression:urine RGD PMID:26456596 RGD:41404678 NCBI chr10:71,902,600...71,902,691 JBrowse link
G Mir23b microRNA 23b ISO CTD Direct Evidence: marker/mechanism CTD PMID:34418280 NCBI chr17:1,819,386...1,819,482 JBrowse link
G Mir494 microRNA 494 severity
exacerbates 		ISO RGD PMID:30314946 PMID:30314946 RGD:156420141, RGD:156420141 NCBI chr 6:134,550,115...134,550,197
Ensembl chr 6:134,550,114...134,550,198 		JBrowse link
G Mki67 marker of proliferation Ki-67 disease_progression ISO RGD PMID:12903495 RGD:2317705 NCBI chr 1:199,926,150...199,952,847
Ensembl chr 1:199,926,150...199,952,593 		JBrowse link
G Mmp2 matrix metallopeptidase 2 disease_progression IEP
ISO 		protein:increased expression:bile duct RGD PMID:15213623 PMID:19629755 RGD:2324667, RGD:2325769 NCBI chr19:30,327,643...30,355,856
Ensembl chr19:30,327,643...30,355,856 		JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO
IEP 		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 3:174,103,474...174,111,434
Ensembl chr 3:174,084,123...174,111,442 		JBrowse link
G Msln mesothelin ISO CTD Direct Evidence: marker/mechanism CTD PMID:14576474 NCBI chr10:15,276,489...15,285,921
Ensembl chr10:15,275,659...15,282,153 		JBrowse link
G Mthfr methylenetetrahydrofolate reductase susceptibility ISO DNA:polymorphism (human) RGD PMID:17201138 RGD:2317119 NCBI chr 5:163,748,346...163,768,141
Ensembl chr 5:163,748,321...163,768,105 		JBrowse link
G Muc1 mucin 1, cell surface associated disease_progression ISO
IEP 		protein:increased secretion:bile
protein:increased expression:serum
protein:increased expression:bile duct:
mRNA:increased expression:bile duct 		RGD PMID:19055478 PMID:19260467 PMID:15213623 PMID:18081149 PMID:19639217 RGD:2324622, RGD:2324664, RGD:2324667, RGD:2324638, RGD:2317986 NCBI chr 2:176,933,312...176,938,497
Ensembl chr 2:176,933,047...176,938,491 		JBrowse link
G Muc16 mucin 16, cell surface associated ISO associated with Opisthorchiasis;protein:increased expression:serum RGD PMID:1653472 RGD:2325142 NCBI chr 8:24,440,840...24,644,494 JBrowse link
G Muc17 mucin 17, cell surface associated ISO mRNA:decreased expression:bile duct RGD PMID:11680592 RGD:2324948 NCBI chr12:25,139,076...25,175,249 JBrowse link
G Muc2 mucin 2, oligomeric mucus/gel-forming ISO mRNA:decreased expression:bile duct RGD PMID:11680592 RGD:2324948 NCBI chr 1:206,225,775...206,261,280
Ensembl chr 1:206,229,035...206,261,280 		JBrowse link
G Muc3a mucin 3A, cell surface associated ISO mRNA:decreased expression:bile duct RGD PMID:11680592 RGD:2324948 NCBI chr12:25,082,728...25,091,494
Ensembl chr12:25,082,837...25,097,265 		JBrowse link
G Muc4 mucin 4, cell surface associated disease_progression ISO
IEP 		protein:increased expression:bile duct RGD PMID:14752841 PMID:19082442 RGD:2324944, RGD:2303602 NCBI chr11:81,513,321...81,575,200 JBrowse link
G Muc5ac mucin 5AC, oligomeric mucus/gel-forming disease_progression ISO protein:increased expression:serum
mRNA:increased expression:bile duct 		RGD PMID:14508831 PMID:11680592 RGD:2324990, RGD:2324948 NCBI chr 1:206,293,717...206,326,006
Ensembl chr 1:206,293,869...206,326,006 		JBrowse link
G Muc5b mucin 5B, oligomeric mucus/gel-forming ISO mRNA:decreased expression:bile duct RGD PMID:11680592 RGD:2324948 NCBI chr 1:206,346,400...206,378,367
Ensembl chr 1:206,346,400...206,378,367 		JBrowse link
G Muc6 mucin 6, oligomeric mucus/gel-forming ISO protein:increased expression: : RGD PMID:10209489 RGD:2325167 NCBI chr 1:206,155,826...206,194,384
Ensembl chr 1:206,155,593...206,191,864 		JBrowse link
G Nat2 N-acetyltransferase 2 ISO DNA:polymorphisms (human) RGD PMID:15901993 RGD:2317172 NCBI chr16:26,974,874...27,005,191
Ensembl chr16:26,974,601...26,976,304 		JBrowse link
G Ncam1 neural cell adhesion molecule 1 ISO associated with hepatitis RGD PMID:12031086 RGD:2326079 NCBI chr 8:58,762,088...59,062,131
Ensembl chr 8:58,762,116...59,061,971 		JBrowse link
G Nos2 nitric oxide synthase 2 ISO protein:increased expression:bile duct
CTD Direct Evidence: marker/mechanism 		CTD
RGD		 PMID:16818635 PMID:16094703 RGD:2325280 NCBI chr10:64,313,335...64,349,221
Ensembl chr10:64,313,335...64,401,880 		JBrowse link
G Notch1 notch receptor 1 ISO protein:increased expression:cholangiocyte RGD PMID:15887117 RGD:2325330 NCBI chr 3:29,676,040...29,721,613
Ensembl chr 3:29,676,171...29,721,613 		JBrowse link
G Nr1h4 nuclear receptor subfamily 1, group H, member 4 disease_progression IEP mRNA:decreased expression:liver (rat) RGD PMID:24255171 RGD:15090822 NCBI chr 7:25,733,471...25,829,440
Ensembl chr 7:25,733,471...25,829,389 		JBrowse link
G Ogg1 8-oxoguanine DNA glycosylase disease_progression ISO DNA:loss of heterozygosity (human) RGD PMID:11866974 PMID:11260864 RGD:2317134, RGD:2317136 NCBI chr 4:148,030,237...148,037,599
Ensembl chr 4:148,030,349...148,037,604 		JBrowse link
G Osbp2 oxysterol binding protein 2 ISO mRNA:increased expression:blood RGD PMID:21763455 RGD:41404644 NCBI chr14:82,808,693...82,970,386
Ensembl chr14:82,808,693...82,970,532 		JBrowse link
G Osbpl7 oxysterol binding protein-like 7 ISO mRNA:increased expression:blood RGD PMID:21763455 RGD:41404644 NCBI chr10:82,532,335...82,549,999
Ensembl chr10:82,532,411...82,549,999 		JBrowse link
G Panx2 pannexin 2 disease_progression ISO mRNA:altered expression:liver (human) RGD PMID:31687280 RGD:152998978 NCBI chr 7:122,018,937...122,032,009
Ensembl chr 7:122,018,937...122,032,004 		JBrowse link
G Pawr pro-apoptotic WT1 regulator ISO mRNA,protein:decreased expression:cholangiocyte: RGD PMID:20724592 RGD:9835357 NCBI chr 7:45,531,480...45,611,492
Ensembl chr 7:45,531,637...45,611,492 		JBrowse link
G Pbrm1 polybromo 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24185509 NCBI chr16:6,219,933...6,319,336
Ensembl chr16:6,219,917...6,319,336 		JBrowse link
G Peg3 paternally expressed 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22561520 NCBI chr 1:76,130,965...76,157,774
Ensembl chr 1:76,130,948...76,157,743 		JBrowse link
G Pes1 pescadillo ribosomal biogenesis factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:34845814 NCBI chr14:83,074,346...83,090,726
Ensembl chr14:83,074,319...83,091,718 		JBrowse link
G Pir pirin disease_progression ISO mRNA:altered expression:liver (human) RGD PMID:31687280 RGD:152998978 NCBI chr  X:33,740,428...33,851,049
Ensembl chr  X:33,740,429...33,851,049 		JBrowse link
G Ppia peptidylprolyl isomerase A ameliorates ISO human cell line and construct in a mouse model RGD PMID:21871105 RGD:150429623 NCBI chr14:85,491,223...85,496,884
Ensembl chr14:85,492,484...85,497,115 		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 2:227,839,058...228,113,560
Ensembl chr 2:227,839,062...228,113,554 		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 5:12,720,683...13,036,077
Ensembl chr 5:12,720,683...13,057,881 		JBrowse link
G Prkaca protein kinase cAMP-activated catalytic subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:26258846 NCBI chr19:41,059,843...41,083,189
Ensembl chr19:41,059,843...41,086,494 		JBrowse link
G Prkacb protein kinase cAMP-activated catalytic subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:26258846 NCBI chr 2:238,297,140...238,389,317
Ensembl chr 2:238,300,127...238,386,315 		JBrowse link
G Prrg4 proline rich and Gla domain 4 disease_progression ISO mRNA:altered expression:liver (human) RGD PMID:31687280 RGD:152998978 NCBI chr 3:111,669,508...111,698,205
Ensembl chr 3:111,673,582...111,698,205 		JBrowse link
G Prss2 protease, serine, 2 ISO protein:increased expression:serum RGD PMID:8621252 RGD:2324908 NCBI chr 4:71,244,964...71,250,043
Ensembl chr 4:71,244,964...71,250,043 		JBrowse link
G Prss56 serine protease 56 disease_progression ISO mRNA:altered expression:liver (human) RGD PMID:31687280 RGD:152998978 NCBI chr 9:95,289,984...95,307,877
Ensembl chr 9:95,302,772...95,307,877 		JBrowse link
G Pten phosphatase and tensin homolog ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:27022031 PMID:23376645 RGD:12802341 NCBI chr 1:240,043,707...240,110,330
Ensembl chr 1:240,043,707...240,110,330 		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 chr13:64,714,063...64,722,320
Ensembl chr13:64,713,619...64,722,320 		JBrowse link
G Rassf8 Ras association domain family member 8 disease_progression ISO mRNA:altered expression:liver (human) RGD PMID:31687280 RGD:152998978 NCBI chr 4:180,447,050...180,528,792
Ensembl chr 4:180,446,846...180,528,790 		JBrowse link
G Reg1a regenerating family member 1 alpha susceptibility ISO mRNA, protein:increased expression:liver (human) RGD PMID:11343228 RGD:10044031 NCBI chr 4:112,450,466...112,453,130
Ensembl chr 4:112,450,468...112,453,585 		JBrowse link
G Rnf39 ring finger protein 39 disease_progression ISO mRNA:altered expression:liver (human) RGD PMID:31687280 RGD:152998978 NCBI chr20:1,610,027...1,615,516
Ensembl chr20:1,610,026...1,612,323 		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 chr10:72,958,744...73,034,540
Ensembl chr10:72,961,641...73,034,551 		JBrowse link
G Robo2 roundabout guidance receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22561520 NCBI chr11:26,015,919...27,583,750
Ensembl chr11:26,015,919...26,876,185 		JBrowse link
G Runx3 RUNX family transcription factor 3 ISO protein:decreased expression:bile duct RGD PMID:19827872 RGD:2324955 NCBI chr 5:152,644,270...152,702,835
Ensembl chr 5:152,644,270...152,702,835 		JBrowse link
G Slc4a4 solute carrier family 4 member 4 disease_progression ISO mRNA:altered expression:liver (human) RGD PMID:31687280 RGD:152998978 NCBI chr14:19,125,394...19,577,379
Ensembl chr14:19,129,264...19,577,435 		JBrowse link
G Slc5a5 solute carrier family 5 member 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17408651 NCBI chr16:18,580,705...18,590,692
Ensembl chr16:18,580,705...18,590,691 		JBrowse link
G Slc7a5 solute carrier family 7 member 5 disease_progression
treatment 		ISO RGD PMID:25475870 PMID:28347255 PMID:24131658 RGD:151361214, RGD:151361294, RGD:151361287 NCBI chr19:66,843,808...66,872,412
Ensembl chr19:66,843,808...66,872,412 		JBrowse link
G Smad4 SMAD family member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22561520 NCBI chr18:69,518,988...69,549,684
Ensembl chr18:69,518,988...69,549,684 		JBrowse link
G Socs3 suppressor of cytokine signaling 3 severity ISO protein:decreased expression:bile duct (human) RGD PMID:26485275 RGD:11250478 NCBI chr10:103,692,579...103,695,975
Ensembl chr10:103,690,976...103,704,825 		JBrowse link
G Sox17 SRY-box transcription factor 17 severity IEP RGD PMID:20816680 RGD:4889598 NCBI chr 5:19,814,345...19,819,859
Ensembl chr 5:19,814,360...19,819,854 		JBrowse link
G Sox2 SRY-box transcription factor 2 disease_progression ISO mRNA:altered expression:liver (human) RGD PMID:31687280 RGD:152998978 NCBI chr 2:119,465,131...119,467,542
Ensembl chr 2:119,454,541...119,496,350 		JBrowse link
G Tgfb1 transforming growth factor, beta 1 disease_progression ISO
IEP 		protein:increased expression:pancreas RGD PMID:16083599 PMID:12632524 RGD:2325020, RGD:1299231 NCBI chr 1:90,324,312...90,340,627
Ensembl chr 1:90,324,046...90,340,899 		JBrowse link
G Tgfbr2 transforming growth factor, beta receptor 2 IEP mRNA:increased expression:bile duct RGD PMID:12632524 RGD:1299231 NCBI chr 8:124,672,677...124,761,741
Ensembl chr 8:124,674,986...124,761,469 		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 3:125,510,250...125,525,402
Ensembl chr 3:125,510,250...125,525,402 		JBrowse link
G Tnc tenascin C severity IEP RGD PMID:20816680 RGD:4889598 NCBI chr 5:82,391,340...82,476,197
Ensembl chr 5:82,391,340...82,476,131 		JBrowse link
G Tnfaip3 TNF alpha induced protein 3 severity ISO protein:increased expression:bile duct (human) RGD PMID:26485275 RGD:11250478 NCBI chr 1:15,528,921...15,543,993
Ensembl chr 1:15,528,921...15,543,979 		JBrowse link
G Tp53 tumor protein p53 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16818635 PMID:22561520 NCBI chr10:54,798,871...54,810,300
Ensembl chr10:54,798,851...54,810,299 		JBrowse link
G Ttr transthyretin ISO protein:decreased expression:blood serum (human) RGD PMID:18275060 RGD:151660506 NCBI chr18:12,216,684...12,225,972
Ensembl chr18:12,216,732...12,225,969 		JBrowse link
G Ugt1a9 UDP glucuronosyltransferase family 1 member A9 ISO RGD PMID:9230212 RGD:2325161 NCBI chr 9:96,144,786...96,256,264
Ensembl chr 9:96,144,786...96,256,264 		JBrowse link
G Vegfa vascular endothelial growth factor A ISO ClinVar Annotator: match by term: Cholangiocarcinoma ClinVar PMID:18550579 NCBI chr 9:22,452,854...22,468,194
Ensembl chr 9:22,439,392...22,468,194 		JBrowse link
G Wdhd1 WD repeat and HMG-box DNA binding protein 1 ameliorates ISO RGD PMID:30314946 RGD:156420141 NCBI chr15:22,957,492...23,002,820
Ensembl chr15:22,958,069...23,002,820 		JBrowse link
G Wnt9a Wnt family member 9A disease_progression ISO mRNA:altered expression:liver (human) RGD PMID:31687280 RGD:152998978 NCBI chr10:44,593,691...44,620,682
Ensembl chr10:44,593,691...44,620,682 		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 chr 6:36,563,704...36,603,300
Ensembl chr 6:36,563,704...36,611,814 		JBrowse link
G Fscn1 fascin actin-bundling protein 1 ISO mRNA, protein:increased expression: : RGD PMID:15136764 RGD:2317789 NCBI chr12:16,710,601...16,723,734
Ensembl chr12:16,710,601...16,723,734 		JBrowse link
G Msln mesothelin ISO protein:increased expression:common bile duct, ampulla of vater RGD PMID:16416732 RGD:2326064 NCBI chr10:15,276,489...15,285,921
Ensembl chr10:15,275,659...15,282,153 		JBrowse link
G Mtap methylthioadenosine phosphorylase ISO DNA, protein:deletion, decreased expression:common bile duct: RGD PMID:15662124 RGD:2317954 NCBI chr 5:108,990,270...109,036,494
Ensembl chr 5:108,988,830...109,055,214 		JBrowse link
G Muc1 mucin 1, cell surface associated disease_progression ISO protein:increased expression:bile duct RGD PMID:8766528 RGD:2324856 NCBI chr 2:176,933,312...176,938,497
Ensembl chr 2:176,933,047...176,938,491 		JBrowse link
G Muc4 mucin 4, cell surface associated ISO protein:increased expression:pancreas RGD PMID:8143972 RGD:2324890 NCBI chr11:81,513,321...81,575,200 JBrowse link
G Muc5ac mucin 5AC, oligomeric mucus/gel-forming ISO protein:altered expression:pancreas RGD PMID:8143972 RGD:2324890 NCBI chr 1:206,293,717...206,326,006
Ensembl chr 1:206,293,869...206,326,006 		JBrowse link
G Tymp thymidine phosphorylase disease_progression ISO RGD PMID:10760693 RGD:2325158 NCBI chr 7:122,318,396...122,323,716
Ensembl chr 7:122,316,520...122,324,003 		JBrowse link
extrahepatic bile duct adenocarcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bap1 BRCA1 associated deubiquitinase 1 disease_progression ISO RGD PMID:25536104 RGD:150340631 NCBI chr16:6,453,126...6,461,952
Ensembl chr16:6,452,974...6,461,952 		JBrowse link
G Pbrm1 polybromo 1 disease_progression ISO RGD PMID:25536104 RGD:150340631 NCBI chr16:6,219,933...6,319,336
Ensembl chr16:6,219,917...6,319,336 		JBrowse link
G Rac1 Rac family small GTPase 1 ISO protein:increased expression:mucosa (human) RGD PMID:21537609 RGD:153350126 NCBI chr12:16,150,411...16,170,864
Ensembl chr12:16,128,649...16,172,109 		JBrowse link
G Slc7a5 solute carrier family 7 member 5 disease_progression ISO RGD PMID:24890221 RGD:151361210 NCBI chr19:66,843,808...66,872,412
Ensembl chr19:66,843,808...66,872,412 		JBrowse link
extrahepatic bile duct carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Xpo1 exportin 1 disease_progression ISO protein:increased expression:extrahepatic bile duct (human) RGD PMID:27279267 RGD:151665800 NCBI chr14:101,434,450...101,476,705
Ensembl chr14:101,434,517...101,476,714 		JBrowse link
familial hepatic adenoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hnf1a HNF1 homeobox A ISO ClinVar Annotator: match by term: Hepatic adenomas, familial | ClinVar Annotator: match by term: LIVER CELL ADENOMAS, FAMILIAL
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:8866553 PMID:8945470 PMID:9032114 PMID:9045858 PMID:9075818 More... NCBI chr12:47,299,171...47,333,457
Ensembl chr12:47,306,245...47,332,755 		JBrowse link
hemangioma of liver term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gja4 gap junction protein, alpha 4 ISO ClinVar Annotator: match by term: Hepatic hemangioma ClinVar PMID:33912852 NCBI chr 5:144,917,791...144,920,324
Ensembl chr 5:144,914,147...144,921,216 		JBrowse link
hepatic angiomyolipoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tsc2 TSC complex subunit 2 IAGP DNA:mutations:multiple
associated with tuberous sclerosis;DNA:mutations:multiple 		RGD PMID:29512829 PMID:22251200 RGD:21079730, RGD:21079732 NCBI chr10:14,125,679...14,160,317
Ensembl chr10:14,125,680...14,160,600 		JBrowse link
hepatocellular adenoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G A2m alpha-2-macroglobulin IEP
ISO 		mRNA,protein:increased expression:liver:
CTD Direct Evidence: marker/mechanism 		CTD
RGD		 PMID:15509519 PMID:15509519 RGD:1358261 NCBI chr 4:156,570,163...156,619,870
Ensembl chr 4:156,569,860...156,619,868 		JBrowse link
G Carm1 coactivator-associated arginine methyltransferase 1 IEP mRNA,protein:increased expression:liver: RGD PMID:23912631 RGD:9586718 NCBI chr 8:28,373,370...28,418,056
Ensembl chr 8:28,373,362...28,418,056 		JBrowse link
G Cdkn1b cyclin-dependent kinase inhibitor 1B ISO CTD Direct Evidence: marker/mechanism CTD PMID:17620307 NCBI chr 4:169,491,273...169,496,500
Ensembl chr 4:169,490,876...169,496,498 		JBrowse link
G Ctnnb1 catenin beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21147764 NCBI chr 8:129,517,576...129,544,661
Ensembl chr 8:129,517,545...129,544,662 		JBrowse link
G Cyp2e1 cytochrome P450, family 2, subfamily e, polypeptide 1 treatment IEP RGD PMID:23543859 RGD:14700918 NCBI chr 1:205,269,967...205,280,365
Ensembl chr 1:205,267,505...205,293,495 		JBrowse link
G Cyp3a23-3a1 cytochrome P450, family 3, subfamily a, polypeptide 23-polypeptide 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:10959800 NCBI chr12:14,369,950...14,398,803
Ensembl chr12:14,368,266...14,398,813 		JBrowse link
G Hnf1a HNF1 homeobox A susceptibility
exacerbates 		IAGP
ISO 		DNA:loss of heterozygosity, mutations:multiple
DNA:mutation: (human)
DNA:frameshift mutation, non-sense mutation:cds:R229X, G55fsX57 (human) 		RGD PMID:12355088 PMID:17663417 PMID:14598263 RGD:14700683, RGD:150530291, RGD:14700774 NCBI chr12:47,299,171...47,333,457
Ensembl chr12:47,306,245...47,332,755 		JBrowse link
G Hp haptoglobin IEP RGD PMID:10569800 RGD:1626391 NCBI chr19:54,449,151...54,453,701
Ensembl chr19:54,446,217...54,467,518 		JBrowse link
G Hras HRas proto-oncogene, GTPase ISO CTD Direct Evidence: marker/mechanism CTD PMID:8200073 NCBI chr 1:205,712,625...205,729,406
Ensembl chr 1:205,725,975...205,729,590 		JBrowse link
G Kras KRAS proto-oncogene, GTPase induced IAGP aflatoxin B1 induced:DNA:transversion,transition mutations:cds: RGD PMID:8446626 RGD:11568697 NCBI chr 4:179,916,255...179,949,613
Ensembl chr 4:179,919,802...179,949,320 		JBrowse link
G Map3k8 mitogen-activated protein kinase kinase kinase 8 ameliorates ISO RGD PMID:26560698 RGD:11342977 NCBI chr17:58,078,175...58,098,455
Ensembl chr17:58,078,320...58,098,452 		JBrowse link
G Mki67 marker of proliferation Ki-67 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31939706 NCBI chr 1:199,926,150...199,952,847
Ensembl chr 1:199,926,150...199,952,593 		JBrowse link
G Nr1h4 nuclear receptor subfamily 1, group H, member 4 ISO RGD PMID:17183066 RGD:14696794 NCBI chr 7:25,733,471...25,829,440
Ensembl chr 7:25,733,471...25,829,389 		JBrowse link
G Nr1i3 nuclear receptor subfamily 1, group I, member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25656644 NCBI chr13:86,165,327...86,170,362
Ensembl chr13:86,165,349...86,170,370 		JBrowse link
G Pten phosphatase and tensin homolog ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:27022031 PMID:15199412 RGD:1302555 NCBI chr 1:240,043,707...240,110,330
Ensembl chr 1:240,043,707...240,110,330 		JBrowse link
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 ISS MouseDO NCBI chr12:41,026,079...41,085,577
Ensembl chr12:41,043,785...41,085,577 		JBrowse link
G Tmem70 transmembrane protein 70 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27914986 NCBI chr 5:7,420,396...7,438,023
Ensembl chr 5:7,420,396...7,438,023 		JBrowse link
G Ube2e2 ubiquitin-conjugating enzyme E2E 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27914986 NCBI chr15:9,411,067...9,688,731
Ensembl chr15:9,411,539...9,712,661 		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 chr18:26,138,382...26,196,021
Ensembl chr18:26,102,679...26,197,022 		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 5:151,192,014...151,269,291
Ensembl chr 5:151,192,014...151,265,386 		JBrowse link
G Bap1 BRCA1 associated deubiquitinase 1 disease_progression ISO RGD PMID:27864835 RGD:150340628 NCBI chr16:6,453,126...6,461,952
Ensembl chr16:6,452,974...6,461,952 		JBrowse link
G Becn1 beclin 1 disease_progression ISO RGD PMID:30849962 RGD:14974231 NCBI chr10:86,731,649...86,747,002
Ensembl chr10:86,731,650...86,747,002 		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 4:69,329,772...69,476,931
Ensembl chr 4:69,342,813...69,476,931 		JBrowse link
G Fas Fas cell surface death receptor disease_progression ISO RGD PMID:11003620 RGD:14700701 NCBI chr 1:241,212,155...241,245,774
Ensembl chr 1:241,205,935...241,246,104 		JBrowse link
G Faslg Fas ligand severity ISO RGD PMID:11003620 RGD:14700701 NCBI chr13:76,680,885...76,706,042
Ensembl chr13:76,688,243...76,695,503 		JBrowse link
G Foxp3 forkhead box P3 IDA DNA:hypomethylation:liver RGD PMID:24291052 RGD:38599002 NCBI chr  X:17,580,380...17,601,181
Ensembl chr  X:17,580,380...17,595,894 		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 chr 6:135,523,604...135,529,687
Ensembl chr 6:135,523,616...135,528,499 		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 9:22,930,249...22,935,929
Ensembl chr 9:22,931,070...22,935,926 		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 chr 9:74,027,887...74,057,442
Ensembl chr 9:74,027,892...74,049,555 		JBrowse link
G Idh2 isocitrate dehydrogenase (NADP(+)) 2 disease_progression ISO DNA:mutations: :
mRNA:decreased expression:liver (mouse) 		RGD PMID:22824796 PMID:32463951 RGD:14985256, RGD:149735894 NCBI chr 1:143,447,925...143,467,248
Ensembl chr 1:143,439,323...143,467,248 		JBrowse link
G Kdm5c lysine demethylase 5C exacerbates ISO protein:decreased expression:bile duct (human) RGD PMID:32714863 RGD:151361175 NCBI chr  X:24,821,568...24,866,423
Ensembl chr  X:24,824,859...24,866,423 		JBrowse link
G Kras KRAS proto-oncogene, GTPase disease_progression ISS
ISO 		DNA:mutations:: MouseDO
RGD		 PMID:24139215 RGD:14398746 NCBI chr 4:179,916,255...179,949,613
Ensembl chr 4:179,919,802...179,949,320 		JBrowse link
G Lcn2 lipocalin 2 treatment IDA
ISO 		Protein:increased expression:bile duct RGD PMID:24939880 PMID:24939880 RGD:126790491, RGD:126790491 NCBI chr 3:36,078,432...36,081,851
Ensembl chr 3:36,078,436...36,081,842 		JBrowse link
G Lrp1b LDL receptor related protein 1B exacerbates ISO DNA:mutations:multiple: (human) RGD PMID:33014052 RGD:150429786 NCBI chr 3:45,004,001...47,125,147
Ensembl chr 3:45,004,689...45,957,692 		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 4:127,762,590...128,368,228
Ensembl chr 4:127,762,590...128,367,833 		JBrowse link
G Mir152 microRNA 152 ISO miRNA:decreased expression:intrahepatic bile duct RGD PMID:28921383 RGD:19165148 NCBI chr10:82,329,383...82,329,467
Ensembl chr10:82,329,383...82,329,467 		JBrowse link
G Mir200b microRNA 200b ISO RNA:increased expression:liver RGD PMID:27685844 RGD:14928335 NCBI chr 5:171,931,495...171,931,589 JBrowse link
G Mir21 microRNA 21 ISO RNA:increased expression:liver,plasma RGD PMID:27685844 RGD:14928335 NCBI chr10:71,902,600...71,902,691 JBrowse link
G Mir221 microRNA 221 severity ISO RGD PMID:27685844 RGD:14928335 NCBI chr  X:6,023,182...6,023,290
Ensembl chr  X:6,023,182...6,023,290 		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 chr16:6,219,933...6,319,336
Ensembl chr16:6,219,917...6,319,336 		JBrowse link
G Pten phosphatase and tensin homolog disease_progression ISO protein:decreased expression:liver (human) RGD PMID:24796583 RGD:152177907 NCBI chr 1:240,043,707...240,110,330
Ensembl chr 1:240,043,707...240,110,330 		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 chr10:72,958,744...73,034,540
Ensembl chr10:72,961,641...73,034,551 		JBrowse link
G Runx1 RUNX family transcription factor 1 ISO mRNA:increased expression:intrahepatic bile duct RGD PMID:31015363 RGD:126775143 NCBI chr11:45,325,778...45,560,300
Ensembl chr11:45,329,044...45,564,925 		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 chr20:12,372,345...12,381,159
Ensembl chr20:12,372,348...12,381,081 		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 chr18:69,518,988...69,549,684
Ensembl chr18:69,518,988...69,549,684 		JBrowse link
G Tep1 telomerase associated protein 1 ISO mRNA:increased expression:hepatocyte,biliary epithelium. RGD PMID:10498642 RGD:152977753 NCBI chr15:26,519,429...26,567,073
Ensembl chr15:26,519,431...26,567,073 		JBrowse link
G Terc telomerase RNA component ISO RNA:increased expression:hepatocyte,biliary epithelium. RGD PMID:10498642 RGD:152977753 NCBI chr 2:114,744,148...114,744,535 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 chr18:26,138,382...26,196,021
Ensembl chr18:26,102,679...26,197,022 		JBrowse link
G Arid1a AT-rich interaction domain 1A disease_progression ISO DNA:deletions RGD PMID:33387086 RGD:126848756 NCBI chr 5:151,192,014...151,269,291
Ensembl chr 5:151,192,014...151,265,386 		JBrowse link
G Gata6 GATA binding protein 6 sexual_dimorphism ISO DNA:mutations RGD PMID:33387086 RGD:126848756 NCBI chr18:2,460,909...2,492,322
Ensembl chr18:2,458,253...2,492,322 		JBrowse link
G Kmt2c lysine methyltransferase 2C onset ISO DNA:mutations RGD PMID:33387086 RGD:126848756 NCBI chr 4:10,353,698...10,755,965
Ensembl chr 4:10,353,735...10,568,620 		JBrowse link
G Kras KRAS proto-oncogene, GTPase disease_progression ISO DNA:mutations RGD PMID:33387086 RGD:126848756 NCBI chr 4:179,916,255...179,949,613
Ensembl chr 4:179,919,802...179,949,320 		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 5:12,720,683...13,036,077
Ensembl chr 5:12,720,683...13,057,881 		JBrowse link
liver benign neoplasm term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldob aldolase, fructose-bisphosphate B IEP protein:increased activity:liver (rat) RGD PMID:8264573 RGD:2313432 NCBI chr 5:68,684,541...68,697,582
Ensembl chr 5:68,684,542...68,716,740 		JBrowse link
G Apobec1 apolipoprotein B mRNA editing enzyme catalytic subunit 1 IMP RGD PMID:9633945 RGD:10755510 NCBI chr 4:157,472,879...157,500,496
Ensembl chr 4:157,472,868...157,498,909 		JBrowse link
G Cbx7 chromobox 7 ISO RGD PMID:22214847 RGD:9587356 NCBI chr 7:113,341,030...113,358,716
Ensembl chr 7:113,341,030...113,358,346 		JBrowse link
G Cdkn1a cyclin-dependent kinase inhibitor 1A IEP protein:increased expression:liver RGD PMID:23890812 RGD:13792775 NCBI chr20:7,150,820...7,161,373
Ensembl chr20:7,153,958...7,164,969 		JBrowse link
G Col1a1 collagen type I alpha 1 chain onset IEP mRNA:increased expression:liver (rat) RGD PMID:21295105 RGD:5130894 NCBI chr10:80,380,458...80,397,461
Ensembl chr10:80,380,453...80,397,460 		JBrowse link
G Eif4g2 eukaryotic translation initiation factor 4, gamma 2 ISO RGD PMID:9633945 RGD:10755510 NCBI chr 1:174,616,102...174,628,252
Ensembl chr 1:174,616,103...174,628,252 		JBrowse link
G H2ax H2A.X variant histone treatment IEP RGD PMID:23474136 RGD:8693737 NCBI chr 8:53,568,718...53,570,072
Ensembl chr 8:53,568,281...53,573,079 		JBrowse link
G Hspa4 heat shock protein family A (Hsp70) member 4 IEP protein:increased expression:liver (rat) RGD PMID:22213170 RGD:5686872 NCBI chr10:37,908,866...37,951,994
Ensembl chr10:37,908,866...37,949,835 		JBrowse link
G Il10 interleukin 10 treatment IEP RGD PMID:25168696 RGD:11049493 NCBI chr13:45,024,921...45,029,586
Ensembl chr13:45,025,087...45,029,580 		JBrowse link
G Kmt5c lysine methyltransferase 5C disease_progression IEP protein:decreased expression:liver RGD PMID:16497704 RGD:9586726 NCBI chr 1:78,128,325...78,135,931
Ensembl chr 1:78,128,325...78,135,931 		JBrowse link
G Map2k3 mitogen activated protein kinase kinase 3 ISO RGD PMID:24233520 RGD:7495808 NCBI chr10:46,107,639...46,128,986
Ensembl chr10:46,106,548...46,129,004 		JBrowse link
G Met MET proto-oncogene, receptor tyrosine kinase onset IEP mRNA, protein:increased expression:neoplastic liver (rat) RGD PMID:11956651 RGD:2317546 NCBI chr 4:46,756,823...46,864,041
Ensembl chr 4:46,756,506...46,870,821 		JBrowse link
G Mthfr methylenetetrahydrofolate reductase onset IEP mRNA:decreased expression:liver (rat) RGD PMID:22213190 RGD:6893663 NCBI chr 5:163,748,346...163,768,141
Ensembl chr 5:163,748,321...163,768,105 		JBrowse link
G Nqo1 NAD(P)H quinone dehydrogenase 1 IEP RGD PMID:24418717 RGD:11035219 NCBI chr19:52,205,374...52,220,267
Ensembl chr19:52,205,314...52,220,260 		JBrowse link
G Ttpa alpha tocopherol transfer protein IEP mRNA:decreased expression:liver RGD PMID:9178827 RGD:1600436 NCBI chr 5:38,294,415...38,315,471
Ensembl chr 5:38,292,665...38,315,804 		JBrowse link
G Tut4 terminal uridylyl transferase 4 ISO human cells in a mouse model RGD PMID:24056962 RGD:11530012 NCBI chr 5:128,354,975...128,535,288
Ensembl chr 5:128,431,719...128,535,656 		JBrowse link
periampullary adenoma 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: Periampullary adenoma ClinVar PMID:25741868 PMID:27087319 PMID:28492532 PMID:32860008 NCBI chr18:26,138,382...26,196,021
Ensembl chr18:26,102,679...26,197,022 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14566
    disease of anatomical entity 13676
      gastrointestinal system disease 4904
        hepatobiliary disease 2857
          hepatobiliary benign neoplasm 182
            biliary tract benign neoplasm + 152
            liver benign neoplasm + 36
Path 2
Term Annotations click to browse term
  disease 14566
    disease of anatomical entity 13676
      gastrointestinal system disease 4904
        Digestive System Neoplasms 2337
          Gastrointestinal Neoplasms 2202
            gastrointestinal system benign neoplasm 233
              hepatobiliary benign neoplasm 182
                biliary tract benign neoplasm + 152
                liver benign neoplasm + 36
paths to the root