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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

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



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biliary tract cancer term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apob apolipoprotein B ISO protein:increased expression:serum RGD PMID:18076041 RGD:2325763 NCBI chr12:8,027,629...8,066,839
Ensembl chr12:8,027,648...8,066,835
JBrowse link
G Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 ISO DNA:polymorphism:exon:rs2606345 (human) RGD PMID:19168589 RGD:2317210 NCBI chr 9:57,595,211...57,611,107
Ensembl chr 9:57,595,211...57,611,107
JBrowse link
G Ppard peroxisome proliferator activator receptor delta ISO RGD PMID:18497548 RGD:2324871 NCBI chr17:28,451,715...28,520,446
Ensembl chr17:28,451,674...28,520,448
JBrowse link
adenosquamous gallbladder carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ddr2 discoidin domain receptor family, member 2 disease_progression ISO RGD PMID:29043607 RGD:150429712 NCBI chr 1:169,799,874...169,938,525
Ensembl chr 1:169,799,876...169,938,331
JBrowse link
G Ifitm1 interferon induced transmembrane protein 1 disease_progression ISO RGD PMID:29043607 RGD:150429712 NCBI chr 7:140,547,342...140,549,740
Ensembl chr 7:140,547,134...140,549,738
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 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 Hnf1b HNF1 homeobox B ISO CTD Direct Evidence: marker/mechanism CTD PMID:39887605 NCBI chr11:83,741,035...83,796,743
Ensembl chr11:83,740,889...83,796,645
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
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
gallbladder adenocarcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ace angiotensin I converting enzyme ISO DNA:polymorphism: :rs4646994 (human) RGD PMID:20438364 RGD:2325207 NCBI chr11:105,858,774...105,880,790
Ensembl chr11:105,858,771...105,880,790
JBrowse link
G Cdk1 cyclin dependent kinase 1 ISO protein:increased expression:gallbladder RGD PMID:15017593 RGD:2722465 NCBI chr10:69,170,976...69,188,742
Ensembl chr10:69,170,976...69,188,768
JBrowse link
G Ddr2 discoidin domain receptor family, member 2 disease_progression ISO RGD PMID:29043607 RGD:150429712 NCBI chr 1:169,799,874...169,938,525
Ensembl chr 1:169,799,876...169,938,331
JBrowse link
G Ifitm1 interferon induced transmembrane protein 1 disease_progression ISO RGD PMID:29043607 RGD:150429712 NCBI chr 7:140,547,342...140,549,740
Ensembl chr 7:140,547,134...140,549,738
JBrowse link
gallbladder cancer term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apc APC, WNT signaling pathway regulator disease_progression ISO DNA:SNP::rs11954856(human) RGD PMID:26715268 RGD:151356500 NCBI chr18:34,353,350...34,455,243
Ensembl chr18:34,353,977...34,455,605
JBrowse link
G Apob apolipoprotein B susceptibility ISO DNA:SNP: :rs693 (human) RGD PMID:20082485 PMID:17696941 RGD:2325761, RGD:2325764 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 Axin2 axin 2 disease_progression ISO DNA:SNP::s4791171(human) RGD PMID:26715268 RGD:151356500 NCBI chr11:108,808,687...108,841,609
Ensembl chr11:108,811,175...108,841,609
JBrowse link
G Braf Braf transforming gene ISO ClinVar Annotator: match by term: Gallbladder cancer ClinVar NCBI chr 6:39,580,171...39,702,592
Ensembl chr 6:39,580,171...39,702,397
JBrowse link
G Bub1b BUB1B, mitotic checkpoint serine/threonine kinase ISO mRNA:increased expression:gallbladder RGD PMID:18497548 RGD:2324871 NCBI chr 2:118,428,684...118,472,073
Ensembl chr 2:118,428,692...118,472,072
JBrowse link
G Calr calreticulin exacerbates ISO mRNA, protein:increased expression:gall bladder (human) RGD PMID:33591948 RGD:150521682 NCBI chr 8:85,568,717...85,573,560
Ensembl chr 8:85,568,479...85,573,563
JBrowse link
G Ccr5 C-C motif chemokine receptor 5 onset ISO DNA:frameshift mutation:cds:p.S185_T195del rs333 (human) RGD PMID:18405329 RGD:2317570 NCBI chr 9:123,921,557...123,934,153
Ensembl chr 9:123,921,580...123,947,736
JBrowse link
G Ctnnb1 catenin beta 1 ISO ClinVar Annotator: match by term: Gallbladder cancer ClinVar PMID:10435629 PMID:26822237 NCBI chr 9:120,762,466...120,789,573
Ensembl chr 9:120,758,282...120,789,573
JBrowse link
G Cyp17a1 cytochrome P450, family 17, subfamily a, polypeptide 1 susceptibility ISO DNA:transition:5' utr:-34T>C rs743572 (human) RGD PMID:16381022 RGD:2317619 NCBI chr19:46,655,604...46,661,439
Ensembl chr19:46,655,604...46,661,611
JBrowse link
G Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 ISO DNA:polymorphism: :p.I462V (human)
DNA:transition: :6235T>C (human)
RGD PMID:18990008 PMID:18287863 RGD:2317211, RGD:2317212 NCBI chr 9:57,595,211...57,611,107
Ensembl chr 9:57,595,211...57,611,107
JBrowse link
G Dpyd dihydropyrimidine dehydrogenase disease_progression ISO RGD PMID:16619549 RGD:2317631 NCBI chr 3:118,355,758...119,226,573
Ensembl chr 3:118,355,778...119,226,573
JBrowse link
G Egf epidermal growth factor susceptibility ISO DNA:SNP: :+61A>G (rs4444903)(human) RGD PMID:8093356 PMID:18571008 RGD:2317646, RGD:2317641 NCBI chr 3:129,471,223...129,548,971
Ensembl chr 3:129,471,214...129,548,965
JBrowse link
G Gli1 GLI-Kruppel family member GLI1 disease_progression ISO DNA:SNP::rs2228226(human) RGD PMID:26715268 RGD:151356500 NCBI chr10:127,165,751...127,177,448
Ensembl chr10:127,165,751...127,177,843
JBrowse link
G Gstm1 glutathione S-transferase, mu 1 ISO RGD PMID:26925680 RGD:14700928 NCBI chr 3:107,919,566...107,925,289
Ensembl chr 3:107,919,571...107,925,289
JBrowse link
G Junb jun B proto-oncogene exacerbates ISO protein:increased expression:gall bladder (human) RGD PMID:26318166 RGD:11528126 NCBI chr 8:85,703,538...85,705,377
Ensembl chr 8:85,701,113...85,705,347
JBrowse link
G Keap1 kelch-like ECH-associated protein 1 ISO DNA:missense mutations, frameshift mutations:cds:multiple (human) RGD PMID:18692501 RGD:6893398 NCBI chr 9:21,141,026...21,150,628
Ensembl chr 9:21,141,026...21,150,657
JBrowse link
G Kras Kirsten rat sarcoma viral oncogene homolog ISO ClinVar Annotator: match by term: Gallbladder cancer ClinVar PMID:6320174 PMID:11745231 PMID:15696205 PMID:16051643 PMID:17704260 More... NCBI chr 6:145,162,425...145,197,631
Ensembl chr 6:145,162,425...145,195,965
JBrowse link
G Lrp1b low density lipoprotein-related protein 1B ameliorates ISO DNA:mutations:multiple: (human) RGD PMID:32898339 RGD:150429787 NCBI chr 2:40,485,302...42,543,747
Ensembl chr 2:40,485,258...42,543,636
JBrowse link
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha ISO ClinVar Annotator: match by term: Gallbladder cancer ClinVar PMID:15520168 PMID:15608678 PMID:15930273 PMID:17673550 PMID:21078999 More... NCBI chr 3:32,451,203...32,520,256
Ensembl chr 3:32,451,820...32,522,635
JBrowse link
G Rbp4 retinol binding protein 4, plasma disease_progression ISO associated with type 2 diabetes mellitus; protein:decreased expression:blood serum (human) RGD PMID:37273108 RGD:329849105 NCBI chr19:38,105,068...38,113,769
Ensembl chr19:38,105,077...38,113,729
JBrowse link
G Rictor RPTOR independent companion of MTOR, complex 2 ISO DNA:CNV, amplification:exon (human) RGD PMID:24508317 RGD:152995522 NCBI chr15:6,737,827...6,829,882
Ensembl chr15:6,737,860...6,829,882
JBrowse link
G Smad4 SMAD family member 4 ISO ClinVar Annotator: match by term: Gallbladder cancer ClinVar PMID:10479724 PMID:10764709 PMID:16152648 PMID:16436638 PMID:21465659 More... NCBI chr18:73,767,861...73,836,862
Ensembl chr18:73,772,080...73,836,851
JBrowse link
G Trp53 transformation related protein 53 ISO ClinVar Annotator: match by term: Gallbladder cancer ClinVar PMID:1631137 PMID:1978757 PMID:7478555 PMID:7791795 PMID:8023157 More... NCBI chr11:69,471,174...69,482,699
Ensembl chr11:69,471,185...69,482,699
JBrowse link
G Xrcc1 X-ray repair complementing defective repair in Chinese hamster cells 1 susceptibility ISO DNA:polymorphisms: :p.R194W, p.R399Q (human) RGD PMID:19266243 RGD:2317128 NCBI chr 7:24,246,124...24,272,863
Ensembl chr 7:24,245,714...24,272,865
JBrowse link
gallbladder carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abo ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase ISO RGD PMID:7795450 RGD:2317512 NCBI chr 2:26,732,508...26,754,973
Ensembl chr 2:26,732,515...26,754,991
JBrowse link
G Actr3 ARP3 actin-related protein 3 severity ISO Squamous Cell/Adenosquamous Carcinoma and Adenocarcinoma;protein:increased expression:gall bladder (human) RGD PMID:23320827 RGD:11571623 NCBI chr 1:125,320,642...125,363,464
Ensembl chr 1:125,320,642...125,363,464
JBrowse link
G Antxr1 anthrax toxin receptor 1 severity ISO RGD PMID:21545221 RGD:9684943 NCBI chr 6:87,110,835...87,312,757
Ensembl chr 6:87,110,835...87,312,803
JBrowse link
G Birc3 baculoviral IAP repeat-containing 3 exacerbates ISO mRNA:increased expression:gall bladder (human) RGD PMID:28295868 RGD:153297817 NCBI chr 9:7,848,698...7,873,199
Ensembl chr 9:7,848,700...7,873,187
JBrowse link
G Cfl1 cofilin 1, non-muscle severity ISO Squamous Cell/Adenosquamous Carcinoma and Adenocarcinoma;protein:increased expression:gall bladder (human) RGD PMID:23320827 RGD:11571623 NCBI chr19:5,540,483...5,544,059
Ensembl chr19:5,540,483...5,545,229
JBrowse link
G Clptm1l CLPTM1-like susceptibility ISO DNA:SNP, haplotype: :rs401681(human) RGD PMID:29450669 RGD:150530629 NCBI chr13:73,752,121...73,768,758
Ensembl chr13:73,752,125...73,768,724
JBrowse link
G Gpx3 glutathione peroxidase 3 severity ISO protein:decreased expression:gallbladder (human) RGD PMID:24167362 RGD:151665515 NCBI chr11:54,793,680...54,801,213
Ensembl chr11:54,793,279...54,801,203
JBrowse link
G Il10 interleukin 10 susceptibility ISO associated with Cholelithiasis RGD PMID:19065724 RGD:2317654 NCBI chr 1:130,947,459...130,952,707
Ensembl chr 1:130,947,582...130,952,711
JBrowse link
G Mir155 microRNA 155 disease_progression ISO miRNA:increased expression:gall bladder RGD PMID:26885061 RGD:21079444 NCBI chr16:84,511,028...84,511,092
Ensembl chr16:84,511,028...84,511,092
JBrowse link
G Mtus1 mitochondrial tumor suppressor 1 disease_progression ISO RGD PMID:31882471 RGD:25330344 NCBI chr 8:41,443,949...41,587,318
Ensembl chr 8:41,443,951...41,586,763
JBrowse link
G Ptch1 patched 1 disease_progression ISO RGD PMID:22407314 RGD:150523794 NCBI chr13:63,656,142...63,721,274
Ensembl chr13:63,656,142...63,721,412
JBrowse link
G Rac1 Rac family small GTPase 1 exacerbates ISO protein:increased expression:gallbladder (human) RGD PMID:21853342 RGD:155230819 NCBI chr 5:143,491,236...143,513,786
Ensembl chr 5:143,489,389...143,513,791
JBrowse link
G Tert telomerase reverse transcriptase susceptibility ISO DNA:SNP, haplotype: :rs2736100(human) RGD PMID:29450669 RGD:150530629 NCBI chr13:73,775,030...73,797,962
Ensembl chr13:73,775,030...73,797,962
JBrowse link
G Tgfa transforming growth factor alpha ISO RGD PMID:9542514 RGD:2317470 NCBI chr 6:86,172,020...86,252,726
Ensembl chr 6:86,172,205...86,252,701
JBrowse link
G Tjp1 tight junction protein 1 ISO protein:decreased expression:gallbladder 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
G Tymp thymidine phosphorylase disease_progression ISO RGD PMID:18946757 RGD:2325157 NCBI chr15:89,255,834...89,261,282
Ensembl chr15:89,256,134...89,261,242
JBrowse link
G Ubr5 ubiquitin protein ligase E3 component n-recognin 5 ameliorates ISO human cell line in a mouse model RGD PMID:30775814 RGD:151665192 NCBI chr15:37,966,421...38,084,103
Ensembl chr15:37,967,572...38,079,098
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 16273
    disease of cellular proliferation 7724
      cancer 5671
        organ system cancer 5427
          gastrointestinal system cancer 2920
            hepatobiliary system cancer 1087
              biliary tract cancer 184
                bile duct cancer + 151
                gallbladder cancer + 46
Path 2
Term Annotations click to browse term
  disease 16273
    disease of anatomical entity 15865
      gastrointestinal system disease 6894
        Digestive System Neoplasms 3840
          Gastrointestinal Neoplasms 3716
            gastrointestinal system cancer 2920
              hepatobiliary system cancer 1087
                biliary tract cancer 184
                  bile duct cancer + 151
                  gallbladder cancer + 46
paths to the root