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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:gastrointestinal system benign neoplasm
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Accession:DOID:0050624 term browser browse the term
Definition:An organ system benign neoplasm located_in gastrointestinal tract organs. (DO)



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anus benign neoplasm term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ifnb1 interferon beta 1 ISO CTD Direct Evidence: therapeutic CTD PMID:12170190 PMID:12397731 NCBI chr 5:103,020,758...103,021,595
Ensembl chr 5:103,020,969...103,021,523
JBrowse link
appendiceal neoplasm term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Daxx death-domain associated protein ISO DNA:CNV: (human) RGD PMID:30962504 RGD:152025217 NCBI chr20:4,970,090...4,976,145
Ensembl chr20:4,970,092...4,975,843
JBrowse link
G Nap1l1 nucleosome assembly protein 1-like 1 severity ISO mRNA:increased expression:appendix, mucosa (human) RGD PMID:16794389 RGD:9590083 NCBI chr 7:46,933,278...46,957,853
Ensembl chr 7:46,933,356...46,956,593
JBrowse link
bile duct adenocarcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc7a5 solute carrier family 7 member 5 disease_progression ISO RGD PMID:24131658 RGD:151361287 NCBI chr19:49,935,220...49,963,823
Ensembl chr19:49,935,220...49,963,823
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 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463
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 6:30,844,386...30,883,983
Ensembl chr 6:30,844,368...30,892,497
JBrowse link
G Apoe apolipoprotein E susceptibility ISO DNA:SNP:intron:rs440446 (human) RGD PMID:18296645 RGD:2317550 NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932
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 8:53,828,741...53,932,773
Ensembl chr 8:53,831,093...53,932,437
JBrowse link
G Mir31 microRNA 31 exacerbates ISO RNA:increased expression:bile duct (human) RGD PMID:29860474 RGD:152998990 NCBI chr 5:103,599,038...103,599,143 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 8:111,196,468...111,233,721
Ensembl chr 8:111,196,468...111,233,617
JBrowse link
G Msh2 mutS homolog 2 ISO ClinVar Annotator: match by term: Bile duct cancer ClinVar PMID:33357406 NCBI chr 6:6,813,793...6,872,960
Ensembl chr 6:6,813,795...6,872,938
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 1:176,665,076...176,689,053
Ensembl chr 1:176,665,076...176,688,990
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 chr10:13,573,779...13,621,138
Ensembl chr10:13,573,021...13,621,128
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 1:95,025,462...95,041,559
Ensembl chr 1:95,025,499...95,036,465
JBrowse link
G Stk11 serine/threonine kinase 11 ISO ClinVar Annotator: match by term: Bile duct cancer ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:9,574,553...9,591,315
Ensembl chr 7:9,575,269...9,591,315
JBrowse link
G Tjp1 tight junction protein 1 ISO protein:decreased expression:bile duct RGD PMID:19184677 RGD:2325030 NCBI chr 1:118,849,838...119,094,492
Ensembl chr 1:118,849,838...119,094,432
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 chr10:14,771,946...14,781,382
Ensembl chr10:14,771,961...14,777,643
JBrowse link
G Slc7a5 solute carrier family 7 member 5 disease_progression ISO RGD PMID:24890221 RGD:151361210 NCBI chr19:49,935,220...49,963,823
Ensembl chr19:49,935,220...49,963,823
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 5:22,601,581...22,814,107
Ensembl chr 5:22,603,486...22,813,876
JBrowse link
G Egfr epidermal growth factor receptor ISO CTD Direct Evidence: therapeutic CTD PMID:17341899 NCBI chr14:91,176,979...91,349,722
Ensembl chr14:91,177,067...91,344,382
JBrowse link
G Fscn1 fascin actin-bundling protein 1 disease_progression ISO protein:increased expression:bile duct RGD PMID:17419223 RGD:2317786 NCBI chr12:11,597,042...11,610,183
Ensembl chr12:11,597,048...11,610,211
JBrowse link
G Il6 interleukin 6 disease_progression ISO protein:increased expression:serum RGD PMID:17617204 RGD:2317166 NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
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 4:45,790,456...45,898,139
Ensembl chr 4:45,790,791...45,897,876
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 1:191,710,980...191,937,760
Ensembl chr 1:191,710,930...191,937,756
JBrowse link
G Mki67 marker of proliferation Ki-67 disease_progression ISO RGD PMID:9869516 RGD:2317706 NCBI chr 1:190,496,319...190,522,983
Ensembl chr 1:190,496,319...190,522,762
JBrowse link
G Muc16 mucin 16, cell surface associated ISO protein:increased expression:serum,bile RGD PMID:1657243 RGD:2325134 NCBI chr 8:16,164,531...16,323,126 JBrowse link
G Muc4 mucin 4, cell surface associated disease_progression ISO protein:increased expression:bile duct RGD PMID:16857800 RGD:2324929 NCBI chr11:68,008,245...68,053,242 JBrowse link
G Ncam1 neural cell adhesion molecule 1 disease_progression ISO RGD PMID:8501910 PMID:9851639 RGD:2326077, RGD:2326076 NCBI chr 8:49,865,629...50,165,687
Ensembl chr 8:49,865,633...50,166,014
JBrowse link
G Runx3 RUNX family transcription factor 3 ISO DNA:hypermethylation:promoter RGD PMID:15471559 RGD:2324957 NCBI chr 5:147,360,587...147,419,161
Ensembl chr 5:147,360,994...147,419,156
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 chr14:17,607,397...17,622,814
Ensembl chr14:17,607,381...17,622,836
JBrowse link
G Ctps1 CTP synthase 1 ISO mRNA:increased expression:biliary tract neoplasm (human) RGD PMID:12819026 RGD:2317903 NCBI chr 5:134,125,022...134,154,155
Ensembl chr 5:134,125,025...134,154,180
JBrowse link
G Elf3 E74 like ETS transcription factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26258846 NCBI chr13:46,690,460...46,695,394
Ensembl chr13:46,690,466...46,695,481
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 chr13:74,151,519...74,172,760
Ensembl chr13:74,154,954...74,162,215
JBrowse link
G Hgf hepatocyte growth factor ISO mRNA:increased expression: : RGD PMID:12819026 RGD:2317903 NCBI chr 4:18,673,736...18,745,582
Ensembl chr 4:18,677,101...18,745,409
JBrowse link
G Il4 interleukin 4 ISO RGD PMID:18798553 RGD:2317263 NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750
JBrowse link
G Il6 interleukin 6 ISO RGD PMID:18159174 RGD:2317165 NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
JBrowse link
G Mdm2 MDM2 proto-oncogene ISO protein:increased expression:biliary epithelium (human) RGD PMID:16505435 RGD:2317415 NCBI chr 7:53,290,660...53,315,205
Ensembl chr 7:53,290,664...53,314,915
JBrowse link
G Mtap methylthioadenosine phosphorylase ISO RGD PMID:16373701 RGD:2317953 NCBI chr 5:103,874,460...103,920,684
Ensembl chr 5:103,873,020...103,939,406
JBrowse link
G Muc1 mucin 1, cell surface associated ISO RGD PMID:19129927 RGD:2317987 NCBI chr 2:174,635,989...174,640,738
Ensembl chr 2:174,635,995...174,640,733
JBrowse link
G Muc4 mucin 4, cell surface associated ISO protein:increased expression:bile,biliary tract RGD PMID:18475301 RGD:2324916 NCBI chr11:68,008,245...68,053,242 JBrowse link
G Muc5ac mucin 5AC, oligomeric mucus/gel-forming disease_progression ISO protein:increased expression:serum RGD PMID:18475301 RGD:2324916 NCBI chr 1:196,864,336...196,896,475
Ensembl chr 1:196,864,336...196,896,475
JBrowse link
G Prkacb protein kinase cAMP-activated catalytic subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:26258846 NCBI chr 2:235,636,878...235,726,928
Ensembl chr 2:235,636,885...235,726,198
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 1:242,664,657...242,723,239
Ensembl chr 1:242,664,657...242,723,238
JBrowse link
G Adrb2 adrenoceptor beta 2 ISO protein:decreased expression:liver RGD PMID:16292515 RGD:2325640 NCBI chr18:55,642,459...55,644,501
Ensembl chr18:55,502,903...55,644,512
JBrowse link
G Alb albumin disease_progression ISO RGD PMID:10776430 PMID:17545000 PMID:20431764 RGD:2325682, RGD:2325680, RGD:2325679 NCBI chr14:17,607,397...17,622,814
Ensembl chr14:17,607,381...17,622,836
JBrowse link
G Alox5 arachidonate 5-lipoxygenase ISO protein:increased expression:bile duct RGD PMID:18507031 RGD:2317521 NCBI chr 4:149,531,329...149,578,696
Ensembl chr 4:149,531,515...149,578,743
JBrowse link
G Anxa2 annexin A2 disease_progression ISO RGD PMID:20493868 RGD:2325728 NCBI chr 8:70,105,268...70,141,663
Ensembl chr 8:70,105,253...70,141,658
JBrowse link
G Anxa8 annexin A8 ISO RGD PMID:19376120 RGD:2325733 NCBI chr16:9,397,144...9,412,072
Ensembl chr16:9,397,113...9,412,043
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 chr18:25,828,558...25,925,511
Ensembl chr18:25,864,222...25,922,696
JBrowse link
G Apoa1 apolipoprotein A1 ISO protein:decreased expression:serum RGD PMID:19486127 RGD:2325756 NCBI chr 8:46,527,251...46,529,035
Ensembl chr 8:46,527,144...46,529,035
JBrowse link
G Arid1a AT-rich interaction domain 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:24185509 NCBI chr 5:145,908,173...145,981,552
Ensembl chr 5:145,908,181...145,985,564
JBrowse link
G Asph aspartate-beta-hydroxylase ISO RGD PMID:21898484 RGD:6902945 NCBI chr 5:22,601,581...22,814,107
Ensembl chr 5:22,603,486...22,813,876
JBrowse link
G Atg101 autophagy related 101 disease_progression ISO RGD PMID:35592424 RGD:153350091 NCBI chr 7:132,398,477...132,407,643
Ensembl chr 7:132,398,483...132,407,633
JBrowse link
G Bap1 BRCA1 associated deubiquitinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24185509 PMID:25231345 NCBI chr16:6,446,709...6,455,535
Ensembl chr16:6,446,709...6,455,535
JBrowse link
G Birc6 baculoviral IAP repeat-containing 6 ameliorates ISO mRNA:increased expression:bile duct (human) RGD PMID:31964418 RGD:153344516 NCBI chr 6:20,722,922...20,916,396
Ensembl chr 6:20,722,922...20,916,434
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 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463
JBrowse link
G Cdkn2a cyclin-dependent kinase inhibitor 2A onset ISO protein:decreased expression:liver RGD PMID:15619210 RGD:2317417 NCBI chr 5:103,984,949...103,992,143
Ensembl chr 5:103,984,949...104,003,149
JBrowse link
G Cxcr1 C-X-C motif chemokine receptor 1 ISO ClinVar Annotator: match by term: Cholangiocarcinoma ClinVar PMID:18550579 PMID:25741868 NCBI chr 9:75,766,894...75,771,079
Ensembl chr 9:75,766,770...75,771,084
JBrowse link
G Cycs cytochrome c, somatic ISO RGD PMID:19788692 RGD:2317615 NCBI chr 4:79,651,894...79,653,994
Ensembl chr 4:79,651,378...79,654,054
Ensembl chr18:79,651,378...79,654,054
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 3:159,275,947...159,290,383
Ensembl chr 3:159,275,947...159,290,383
JBrowse link
G Egf epidermal growth factor ISO ClinVar Annotator: match by term: Cholangiocarcinoma ClinVar PMID:18550579 PMID:28492532 NCBI chr 2:218,219,408...218,302,359
Ensembl chr 2:218,219,415...218,302,064
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 chr14:91,176,979...91,349,722
Ensembl chr14:91,177,067...91,344,382
JBrowse link
G Epo erythropoietin IEP mRNA, protein:increased expression:liver RGD PMID:23052842 RGD:10400912 NCBI chr12:19,204,258...19,207,948
Ensembl chr12:19,204,508...19,207,946
JBrowse link
G Epor erythropoietin receptor IEP mRNA, protein:increased expression:liver RGD PMID:23052842 RGD:10400912 NCBI chr 8:20,489,678...20,494,257
Ensembl chr 8:20,489,678...20,494,257
JBrowse link
G Erbb2 erb-b2 receptor tyrosine kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16818635 NCBI chr10:83,411,197...83,435,078
Ensembl chr10:83,411,313...83,435,078
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 4:76,624,399...76,687,362
Ensembl chr 4:76,624,399...76,687,362
JBrowse link
G Faslg Fas ligand ISO RGD PMID:11029528 RGD:2317746 NCBI chr13:74,151,519...74,172,760
Ensembl chr13:74,154,954...74,162,215
JBrowse link
G Fgf2 fibroblast growth factor 2 ISO protein:increased expression:bile RGD PMID:11478488 RGD:2317765 NCBI chr 2:120,236,328...120,290,673
Ensembl chr 2:120,236,328...120,291,221
JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26258846 NCBI chr 1:184,745,418...184,850,655
Ensembl chr 1:184,745,420...184,850,626
JBrowse link
G Fscn1 fascin actin-bundling protein 1 disease_progression ISO protein:increased expression:bile ducts RGD PMID:19721413 RGD:2317780 NCBI chr12:11,597,042...11,610,183
Ensembl chr12:11,597,048...11,610,211
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 3:163,071,003...163,136,350
Ensembl chr 3:163,071,417...163,127,262
Ensembl chr 3:163,071,417...163,127,262
JBrowse link
G Gstm1 glutathione S-transferase mu 1 ISO RGD PMID:24049014 RGD:14700980 NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411
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 1:201,337,762...201,340,230
Ensembl chr 1:201,321,672...201,340,226
JBrowse link
G Hdac6 histone deacetylase 6 ISO protein:increased expression:liver: RGD PMID:23370327 RGD:9681560 NCBI chr  X:14,550,645...14,572,445
Ensembl chr  X:14,551,044...14,572,441
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 4:18,673,736...18,745,582
Ensembl chr 4:18,677,101...18,745,409
JBrowse link
G Hif1a hypoxia inducible factor 1 subunit alpha ISO ClinVar Annotator: match by term: Cholangiocarcinoma ClinVar PMID:12919954 PMID:18550579 PMID:22647679 PMID:24120591 PMID:25741868 NCBI chr 6:92,624,059...92,669,262
Ensembl chr 6:92,624,390...92,669,261
JBrowse link
G Idh1 isocitrate dehydrogenase (NADP(+)) 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24185509 NCBI chr 9:66,534,146...66,563,703
Ensembl chr 9:66,534,146...66,563,708
JBrowse link
G Idh2 isocitrate dehydrogenase (NADP(+)) 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24185509 NCBI chr 1:134,038,644...134,057,969
Ensembl chr 1:134,029,772...134,058,025
JBrowse link
G Il10 interleukin 10 ISO ClinVar Annotator: match by term: Cholangiocarcinoma ClinVar PMID:11121048 PMID:14657422 PMID:14657427 PMID:18550579 PMID:28492532 NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
JBrowse link
G Il19 interleukin 19 ISO ClinVar Annotator: match by term: Cholangiocarcinoma ClinVar PMID:11121048 PMID:14657422 PMID:14657427 PMID:18550579 PMID:28492532 NCBI chr13:42,397,715...42,411,637
Ensembl chr13:42,399,138...42,405,473
JBrowse link
G Il1b interleukin 1 beta ISO ClinVar Annotator: match by term: Cholangiocarcinoma ClinVar PMID:18550579 PMID:25741868 NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
JBrowse link
G Il1r2 interleukin 1 receptor type 2 disease_progression ISO mRNA:altered expression:liver (human) RGD PMID:31687280 RGD:152998978 NCBI chr 9:42,384,280...42,424,726
Ensembl chr 9:42,384,433...42,424,725
JBrowse link
G Il4r interleukin 4 receptor ISO mRNA:increased expression:bile duct RGD PMID:18798553 RGD:2317263 NCBI chr 1:180,115,061...180,139,981
Ensembl chr 1:180,115,120...180,139,980
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 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
JBrowse link
G Ins2 insulin 2 disease_progression ISO mRNA:altered expression:liver (human) RGD PMID:31687280 RGD:152998978 NCBI chr 1:197,843,277...197,992,522
Ensembl chr 1:197,843,281...197,864,775
JBrowse link
G Kcnd2 potassium voltage-gated channel subfamily D member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:34418280 NCBI chr 4:49,775,812...50,277,746
Ensembl chr 4:49,776,246...50,277,728
JBrowse link
G Kit KIT proto-oncogene receptor tyrosine kinase disease_progression ISO mRNA:altered expression:liver (human) RGD PMID:31687280 RGD:152998978 NCBI chr14:32,547,459...32,624,694
Ensembl chr14:32,548,877...32,624,652
JBrowse link
G Kmt2c lysine methyltransferase 2C ISO CTD Direct Evidence: marker/mechanism CTD PMID:22561520 NCBI chr 4:9,620,638...9,834,787
Ensembl chr 4:9,609,627...9,833,539
JBrowse link
G Kras KRAS proto-oncogene, GTPase ISO CTD Direct Evidence: marker/mechanism CTD PMID:8968066 PMID:22561520 NCBI chr 4:178,185,418...178,218,484 JBrowse link
G Krt7 keratin 7 ISO RGD PMID:18393293 RGD:2317308 NCBI chr 7:132,528,881...132,545,052
Ensembl chr 7:132,528,895...132,545,052
JBrowse link
G Mdm2 MDM2 proto-oncogene disease_progression ISO protein:increased expression:intrahepatic bile duct (human) RGD PMID:15619210 RGD:2317417 NCBI chr 7:53,290,660...53,315,205
Ensembl chr 7:53,290,664...53,314,915
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 4:45,790,456...45,898,139
Ensembl chr 4:45,790,791...45,897,876
JBrowse link
G Mfsd4a major facilitator superfamily domain containing 4A disease_progression ISO mRNA:altered expression:liver (human) RGD PMID:31687280 RGD:152998978 NCBI chr13:43,469,488...43,510,467
Ensembl chr13:43,469,488...43,510,467
JBrowse link
G Mgmt O-6-methylguanine-DNA methyltransferase ISO DNA:hypermethylation:promoter (human) RGD PMID:17550320 RGD:2317632 NCBI chr 1:191,710,980...191,937,760
Ensembl chr 1:191,710,930...191,937,756
JBrowse link
G Mir155 microRNA 155 ISO miRNA:increased expression:serum RGD PMID:30653586 RGD:21081530 NCBI chr11:23,774,654...23,774,718
Ensembl chr11:23,774,654...23,774,718
JBrowse link
G Mir192 microRNA 192 ISO RNA:increased expression:urine RGD PMID:26456596 RGD:41404678 NCBI chr 1:203,564,946...203,565,055
Ensembl chr 1:203,564,946...203,565,055
JBrowse link
G Mir21 microRNA 21 ISO RNA:increased expression:urine RGD PMID:26456596 RGD:41404678 NCBI chr10:71,405,257...71,405,348
Ensembl chr10:71,405,257...71,405,348
JBrowse link
G Mir23b microRNA 23b ISO CTD Direct Evidence: marker/mechanism CTD PMID:34418280 NCBI chr17:1,813,667...1,813,763
Ensembl chr17:1,813,667...1,813,763
JBrowse link
G Mir494 microRNA 494 severity
exacerbates
ISO RGD PMID:30314946 PMID:30314946 RGD:156420141, RGD:156420141 NCBI chr 6:128,728,710...128,728,792
Ensembl chr 6:128,728,709...128,728,793
JBrowse link
G Mki67 marker of proliferation Ki-67 disease_progression ISO RGD PMID:12903495 RGD:2317705 NCBI chr 1:190,496,319...190,522,983
Ensembl chr 1:190,496,319...190,522,762
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 chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870
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 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
JBrowse link
G Msln mesothelin ISO CTD Direct Evidence: marker/mechanism CTD PMID:14576474 NCBI chr10:14,771,946...14,781,382
Ensembl chr10:14,771,961...14,777,643
JBrowse link
G Mthfr methylenetetrahydrofolate reductase susceptibility ISO DNA:polymorphism (human) RGD PMID:17201138 RGD:2317119 NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
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 2:174,635,989...174,640,738
Ensembl chr 2:174,635,995...174,640,733
JBrowse link
G Muc16 mucin 16, cell surface associated ISO associated with Opisthorchiasis;protein:increased expression:serum RGD PMID:1653472 RGD:2325142 NCBI chr 8:16,164,531...16,323,126 JBrowse link
G Muc17 mucin 17, cell surface associated ISO mRNA:decreased expression:bile duct RGD PMID:11680592 RGD:2324948 NCBI chr12:19,527,251...19,536,924
Ensembl chr12:19,527,321...19,538,522
JBrowse link
G Muc2 mucin 2, oligomeric mucus/gel-forming ISO mRNA:decreased expression:bile duct RGD PMID:11680592 RGD:2324948 NCBI chr 1:196,799,494...196,831,740
Ensembl chr 1:196,799,517...196,831,756
JBrowse link
G Muc3a mucin 3A, cell surface associated ISO mRNA:decreased expression:bile duct RGD PMID:11680592 RGD:2324948 NCBI chr12:19,450,679...19,454,753 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 chr11:68,008,245...68,053,242 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 1:196,864,336...196,896,475
Ensembl chr 1:196,864,336...196,896,475
JBrowse link
G Muc5b mucin 5B, oligomeric mucus/gel-forming ISO mRNA:decreased expression:bile duct RGD PMID:11680592 RGD:2324948 NCBI chr 1:196,916,861...196,948,830
Ensembl chr 1:196,916,825...196,949,250
JBrowse link
G Muc6 mucin 6, oligomeric mucus/gel-forming ISO protein:increased expression: : RGD PMID:10209489 RGD:2325167 NCBI chr 1:196,726,678...196,764,842
Ensembl chr 1:196,726,807...196,764,842
JBrowse link
G Nat2 N-acetyltransferase 2 ISO DNA:polymorphisms (human) RGD PMID:15901993 RGD:2317172 NCBI chr16:22,207,362...22,238,513
Ensembl chr16:22,208,194...22,238,520
JBrowse link
G Ncam1 neural cell adhesion molecule 1 ISO associated with hepatitis RGD PMID:12031086 RGD:2326079 NCBI chr 8:49,865,629...50,165,687
Ensembl chr 8:49,865,633...50,166,014
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 chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210
JBrowse link
G Notch1 notch receptor 1 ISO protein:increased expression:cholangiocyte RGD PMID:15887117 RGD:2325330 NCBI chr 3:9,277,955...9,323,531
Ensembl chr 3:9,278,086...9,323,531
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 7:23,846,122...23,942,085
Ensembl chr 7:23,846,122...23,942,047
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 4:146,474,701...146,481,959
Ensembl chr 4:146,474,750...146,484,766
JBrowse link
G Osbp2 oxysterol binding protein 2 ISO mRNA:increased expression:blood RGD PMID:21763455 RGD:41404644 NCBI chr14:78,585,088...78,746,785
Ensembl chr14:78,585,089...78,746,786
JBrowse link
G Osbpl7 oxysterol binding protein-like 7 ISO mRNA:increased expression:blood RGD PMID:21763455 RGD:41404644 NCBI chr10:82,035,995...82,053,566
Ensembl chr10:82,036,042...82,053,557
JBrowse link
G Panx2 pannexin 2 disease_progression ISO mRNA:altered expression:liver (human) RGD PMID:31687280 RGD:152998978 NCBI chr 7:120,139,259...120,153,056
Ensembl chr 7:120,139,294...120,152,361
JBrowse link
G Pawr pro-apoptotic WT1 regulator ISO mRNA,protein:decreased expression:cholangiocyte: RGD PMID:20724592 RGD:9835357 NCBI chr 7:43,645,028...43,725,033
Ensembl chr 7:43,645,084...43,725,028
JBrowse link
G Pbrm1 polybromo 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24185509 NCBI chr16:6,213,507...6,312,895
Ensembl chr16:6,213,300...6,311,780
JBrowse link
G Peg3 paternally expressed 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22561520 NCBI chr 1:67,097,874...67,124,692
Ensembl chr 1:67,097,904...67,124,671
JBrowse link
G Pes1 pescadillo ribosomal biogenesis factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:34845814 NCBI chr14:78,850,754...78,867,134
Ensembl chr14:78,850,709...78,867,134
JBrowse link
G Pir pirin disease_progression ISO mRNA:altered expression:liver (human) RGD PMID:31687280 RGD:152998978 NCBI chr  X:30,108,536...30,219,269
Ensembl chr  X:30,108,538...30,219,218
JBrowse link
G Ppia peptidylprolyl isomerase A ameliorates ISO human cell line and construct in a mouse model RGD PMID:21871105 RGD:150429623 NCBI chr14:81,279,292...81,282,960
Ensembl chr14:81,275,091...81,299,601
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 2:225,165,981...225,440,978
Ensembl chr 2:225,165,766...225,438,974
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 5:7,937,692...8,253,112
Ensembl chr 5:7,942,573...8,253,068
JBrowse link
G Prkaca protein kinase cAMP-activated catalytic subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:26258846 NCBI chr19:24,155,081...24,178,430
Ensembl chr19:24,155,090...24,178,430
JBrowse link
G Prkacb protein kinase cAMP-activated catalytic subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:26258846 NCBI chr 2:235,636,878...235,726,928
Ensembl chr 2:235,636,885...235,726,198
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 3:91,214,646...91,243,347
Ensembl chr 3:91,214,653...91,243,273
JBrowse link
G Prss2 protease, serine, 2 ISO protein:increased expression:serum RGD PMID:8621252 RGD:2324908 NCBI chr 4:70,278,304...70,283,385
Ensembl chr 4:70,278,304...70,283,385
JBrowse link
G Prss56 serine protease 56 disease_progression ISO mRNA:altered expression:liver (human) RGD PMID:31687280 RGD:152998978 NCBI chr 9:87,842,806...87,859,978
Ensembl chr 9:87,854,805...87,859,978
JBrowse link
G Pten phosphatase and tensin homolog ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:27022031 PMID:23376645 RGD:12802341 NCBI chr 1:230,630,443...230,697,070
Ensembl chr 1:230,630,338...230,696,838
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 chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188
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 4:178,716,110...178,798,042
Ensembl chr 4:178,719,992...178,796,690
JBrowse link
G Reg1a regenerating family member 1 alpha susceptibility ISO mRNA, protein:increased expression:liver (human) RGD PMID:11343228 RGD:10044031 NCBI chr 4:110,892,451...110,895,115
Ensembl chr 4:110,892,453...110,895,570
JBrowse link
G Rnf39 ring finger protein 39 disease_progression ISO mRNA:altered expression:liver (human) RGD PMID:31687280 RGD:152998978 NCBI chr20:1,604,794...1,610,283
Ensembl chr20:1,604,794...1,610,283
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 chr10:72,461,508...72,537,301
Ensembl chr10:72,464,348...72,536,977
JBrowse link
G Robo2 roundabout guidance receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22561520 NCBI chr11:12,528,949...14,096,726
Ensembl chr11:12,528,951...13,041,536
JBrowse link
G Runx3 RUNX family transcription factor 3 ISO protein:decreased expression:bile duct RGD PMID:19827872 RGD:2324955 NCBI chr 5:147,360,587...147,419,161
Ensembl chr 5:147,360,994...147,419,156
JBrowse link
G Slc4a4 solute carrier family 4 member 4 disease_progression ISO mRNA:altered expression:liver (human) RGD PMID:31687280 RGD:152998978 NCBI chr14:18,841,289...19,293,297
Ensembl chr14:18,845,159...19,272,883
JBrowse link
G Slc5a5 solute carrier family 5 member 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17408651 NCBI chr16:18,546,709...18,556,698
Ensembl chr16:18,546,709...18,556,697
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 chr19:49,935,220...49,963,823
Ensembl chr19:49,935,220...49,963,823
JBrowse link
G Smad4 SMAD family member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22561520 NCBI chr18:67,243,742...67,274,438
Ensembl chr18:67,243,742...67,274,438
JBrowse link
G Socs3 suppressor of cytokine signaling 3 severity ISO protein:decreased expression:bile duct (human) RGD PMID:26485275 RGD:11250478 NCBI chr10:103,193,909...103,197,322
Ensembl chr10:103,193,537...103,197,787
JBrowse link
G Sox17 SRY-box transcription factor 17 severity IEP RGD PMID:20816680 RGD:4889598 NCBI chr 5:15,016,660...15,022,228
Ensembl chr 5:15,016,731...15,022,228
JBrowse link
G Sox2 SRY-box transcription factor 2 disease_progression ISO mRNA:altered expression:liver (human) RGD PMID:31687280 RGD:152998978 NCBI chr 2:117,536,929...117,539,340
Ensembl chr 2:117,536,929...117,539,338
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 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
JBrowse link
G Tgfbr2 transforming growth factor, beta receptor 2 IEP mRNA:increased expression:bile duct RGD PMID:12632524 RGD:1299231 NCBI chr 8:115,794,537...115,883,615
Ensembl chr 8:115,794,537...115,883,228
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 3:105,056,293...105,071,445
Ensembl chr 3:105,056,292...105,071,440
JBrowse link
G Tnc tenascin C severity IEP RGD PMID:20816680 RGD:4889598 NCBI chr 5:77,375,851...77,460,712
Ensembl chr 5:77,375,851...77,460,624
JBrowse link
G Tnfaip3 TNF alpha induced protein 3 severity ISO protein:increased expression:bile duct (human) RGD PMID:26485275 RGD:11250478 NCBI chr 1:13,709,211...13,724,291
Ensembl chr 1:13,709,206...13,725,282
JBrowse link
G Tp53 tumor protein p53 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16818635 PMID:22561520 NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
JBrowse link
G Ttr transthyretin ISO protein:decreased expression:blood serum (human) RGD PMID:18275060 RGD:151660506 NCBI chr18:11,941,791...11,951,008
Ensembl chr18:11,943,789...11,951,008
JBrowse link
G Ugt1a9 UDP glucuronosyltransferase family 1 member A9 ISO RGD PMID:9230212 RGD:2325161 NCBI chr 9:88,696,981...88,808,465
Ensembl chr 9:88,713,184...88,808,465
JBrowse link
G Vegfa vascular endothelial growth factor A ISO ClinVar Annotator: match by term: Cholangiocarcinoma ClinVar PMID:18550579 NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
JBrowse link
G Wdhd1 WD repeat and HMG-box DNA binding protein 1 ameliorates ISO RGD PMID:30314946 RGD:156420141 NCBI chr15:20,478,310...20,523,106
Ensembl chr15:20,489,291...20,523,096
JBrowse link
G Wnt9a Wnt family member 9A disease_progression ISO mRNA:altered expression:liver (human) RGD PMID:31687280 RGD:152998978 NCBI chr10:44,094,140...44,121,134
Ensembl chr10:44,094,140...44,121,133
JBrowse link
colon adenoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Axin2 axin 2 ISO protein:increased expression:: RGD PMID:11809809 RGD:151356508 NCBI chr10:93,893,830...93,927,042
Ensembl chr10:93,899,245...93,926,231
JBrowse link
G Cacna1d calcium voltage-gated channel subunit alpha1 D ISO protein:increased expression:colon (human) RGD PMID:29079724 RGD:152177516 NCBI chr16:5,227,157...5,521,163
Ensembl chr16:5,228,306...5,668,215
JBrowse link
G Ccnd1 cyclin D1 severity ISO RGD PMID:11375949 RGD:151665121 NCBI chr 1:200,089,002...200,098,524
Ensembl chr 1:200,089,002...200,098,602
JBrowse link
G Ccnd2 cyclin D2 severity ISO RGD PMID:11375949 RGD:151665121 NCBI chr 4:159,966,883...159,989,261
Ensembl chr 4:159,962,363...159,989,495
JBrowse link
G Chka choline kinase alpha ISO protein:increased expression:colonic mucosa (human) RGD PMID:10363580 RGD:10401945 NCBI chr 1:201,076,804...201,125,517
Ensembl chr 1:201,076,860...201,125,516
JBrowse link
G Igf2bp1 insulin-like growth factor 2 mRNA binding protein 1 ISO RGD PMID:26194191 RGD:11086893 NCBI chr10:80,908,300...80,951,097
Ensembl chr10:80,908,076...80,951,129
JBrowse link
G Rac1 Rac family small GTPase 1 ISO RGD PMID:12865273 RGD:13432048 NCBI chr12:11,037,028...11,057,251
Ensembl chr12:11,036,698...11,057,251
JBrowse link
G Rbp4 retinol binding protein 4 ISO protein:increased expression:blood serum (human) RGD PMID:25712946 RGD:329849123 NCBI chr 1:235,893,917...235,901,315
Ensembl chr 1:235,893,917...235,901,399
JBrowse link
G Tet2 tet methylcytosine dioxygenase 2 ISO mRNA:decreased expression:colon (human) RGD PMID:29875879 RGD:150429665 NCBI chr 2:221,988,645...222,072,813
Ensembl chr 2:221,988,645...222,072,534
JBrowse link
colorectal 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: Colorectal adenoma ClinVar PMID:2472832 PMID:10811618 PMID:11257105 PMID:11823972 PMID:11904335 More... NCBI chr18:25,828,558...25,925,511
Ensembl chr18:25,864,222...25,922,696
JBrowse link
G Birc7 baculoviral IAP repeat-containing 7 ISO RGD PMID:21122381 RGD:13217408 NCBI chr 3:168,047,824...168,052,606
Ensembl chr 3:168,047,824...168,052,606
JBrowse link
G Cyp24a1 cytochrome P450, family 24, subfamily a, polypeptide 1 severity
treatment
ISO DNA:SNPs:intron, CDS: (rs927650), (rs35051736) (human)
DNA:SNP:CDS: (rs2296241) (human)
RGD PMID:26241700 PMID:27978548 RGD:11521055, RGD:152025254 NCBI chr 3:159,275,947...159,290,383
Ensembl chr 3:159,275,947...159,290,383
JBrowse link
G Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit disease_progression ISO protein:increased expression:large intestine RGD PMID:30214616 RGD:126779593 NCBI chr 4:76,624,399...76,687,362
Ensembl chr 4:76,624,399...76,687,362
JBrowse link
G F5 coagulation factor V ISO protein:increased expression:serum RGD PMID:30971492 RGD:40907058 NCBI chr13:76,513,509...76,583,106
Ensembl chr13:76,513,255...76,582,317
JBrowse link
G Fos Fos proto-oncogene, AP-1 transcription factor subunit ISO RGD PMID:8264230 RGD:13210753 NCBI chr 6:105,121,170...105,124,036
Ensembl chr 6:105,121,170...105,124,036
JBrowse link
G Gpx2 glutathione peroxidase 2 ISO mRNA:increased expression:colorectum (human) RGD PMID:30469315 RGD:151665806 NCBI chr 6:95,493,589...95,496,877
Ensembl chr 6:95,493,589...95,496,877
JBrowse link
G Gpx3 glutathione peroxidase 3 ISO mRNA:decreased expression:colorectum (human) RGD PMID:30469315 RGD:151665806 NCBI chr10:39,028,624...39,036,695
Ensembl chr10:39,028,570...39,037,035
JBrowse link
G Gstm1 glutathione S-transferase mu 1 susceptibility ISO DNA:deletion:cds (human) RGD PMID:20375710 RGD:7495820 NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411
JBrowse link
G Gstp1 glutathione S-transferase pi 1 ISO DNA:SNP: :p.A114V (human) RGD PMID:20375710 RGD:7495820 NCBI chr 1:201,337,762...201,340,230
Ensembl chr 1:201,321,672...201,340,226
JBrowse link
G Jun Jun proto-oncogene, AP-1 transcription factor subunit ISO RGD PMID:8264230 RGD:13210753 NCBI chr 5:109,894,175...109,897,268
Ensembl chr 5:109,893,145...109,897,656
JBrowse link
G Map2k4 mitogen activated protein kinase kinase 4 ISO protein:decreased expression:colorectum (human) RGD PMID:28423721 RGD:150429743 NCBI chr10:50,343,227...50,447,956
Ensembl chr10:50,344,915...50,447,993
JBrowse link
G Mapk8 mitogen-activated protein kinase 8 ISO RGD PMID:21122381 PMID:23082052 RGD:13217408, RGD:13217413 NCBI chr16:8,638,897...8,721,960
Ensembl chr16:8,638,924...8,721,981
JBrowse link
G Mir193b microRNA 193b disease_progression ISO RNA:decreased expression:blood plasma (human) RGD PMID:29226653 RGD:153344556 NCBI chr10:1,317,742...1,317,824
Ensembl chr10:1,317,742...1,317,824
JBrowse link
G Mir224 microRNA 224 ISO mRNA:increased expression:colorectal mucosa: RGD PMID:25919696 RGD:14398749 NCBI chr  X:150,065,088...150,065,169
Ensembl chr  X:150,065,088...150,065,169
JBrowse link
G Myd88 MYD88, innate immune signal transduction adaptor ameliorates ISO RGD PMID:30063920 RGD:150519915 NCBI chr 8:119,074,439...119,078,508
Ensembl chr 8:119,074,437...119,079,415
JBrowse link
G Ptch1 patched 1 ISO RGD PMID:24612059 RGD:150523840 NCBI chr17:1,542,705...1,607,730
Ensembl chr17:1,542,877...1,607,333
JBrowse link
G Ptgis prostaglandin I2 synthase susceptibility ISO DNA:repeats:promoter: RGD PMID:16537708 RGD:151347835 NCBI chr 3:155,928,564...155,964,228
Ensembl chr 3:155,916,412...155,965,451
JBrowse link
G Raf1 Raf-1 proto-oncogene, serine/threonine kinase ISO RGD PMID:21122381 RGD:13217408 NCBI chr 4:148,679,534...148,740,265
Ensembl chr 4:148,679,530...148,740,317
JBrowse link
G Selenoh selenoprotein H ISO mRNA:increased expression:colorectum (human) RGD PMID:30469315 RGD:151665806 NCBI chr 3:69,751,850...69,753,417
Ensembl chr 3:69,752,757...69,753,417
JBrowse link
G Selenop selenoprotein P ISO mRNA:decreased expression:colorectum (human) RGD PMID:30469315 RGD:151665806 NCBI chr 2:52,498,123...52,508,409
Ensembl chr 2:52,498,339...52,508,852
JBrowse link
G Selenos selenoprotein S ISO mRNA:decreased expression:colorectum (human) RGD PMID:30469315 RGD:151665806 NCBI chr 1:119,659,779...119,669,546
Ensembl chr 1:119,659,751...119,669,833
JBrowse link
G Sephs2 selenophosphate synthetase 2 ISO mRNA:decreased expression:colorectum (human) RGD PMID:30469315 RGD:151665806 NCBI chr 1:181,893,146...181,895,464
Ensembl chr 1:181,892,599...181,895,497
JBrowse link
G Smad4 SMAD family member 4 ISO mRNA:increased expression:mucosa RGD PMID:11480790 RGD:21066339 NCBI chr18:67,243,742...67,274,438
Ensembl chr18:67,243,742...67,274,438
JBrowse link
G Smarcc1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1 ameliorates ISO protein:increased expression:colorectal mucosa (human) RGD PMID:19156145 RGD:151347861 NCBI chr 8:110,111,097...110,214,734
Ensembl chr 8:110,111,122...110,214,720
JBrowse link
G Tnfrsf1a TNF receptor superfamily member 1A ISO protein:increased expression:serum, colorectal mucosa, epithelial cell RGD PMID:23082052 RGD:13217413 NCBI chr 4:158,150,815...158,163,592
Ensembl chr 4:158,150,820...158,163,591
JBrowse link
G Ttr transthyretin ISO protein:decreased expression:blood serum (human)
protein:decreased expression:colorectum (human)
RGD PMID:21136704 PMID:33739034 RGD:151664608, RGD:151660505 NCBI chr18:11,941,791...11,951,008
Ensembl chr18:11,943,789...11,951,008
JBrowse link
G Txnrd3 thioredoxin reductase 3 ISO mRNA:increased expression:colorectum (human) RGD PMID:30469315 RGD:151665806 NCBI chr 4:122,072,548...122,112,493
Ensembl chr 4:122,072,548...122,112,491
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 6:30,844,386...30,883,983
Ensembl chr 6:30,844,368...30,892,497
JBrowse link
G Fscn1 fascin actin-bundling protein 1 ISO mRNA, protein:increased expression: : RGD PMID:15136764 RGD:2317789 NCBI chr12:11,597,042...11,610,183
Ensembl chr12:11,597,048...11,610,211
JBrowse link
G Msln mesothelin ISO protein:increased expression:common bile duct, ampulla of vater RGD PMID:16416732 RGD:2326064 NCBI chr10:14,771,946...14,781,382
Ensembl chr10:14,771,961...14,777,643
JBrowse link
G Mtap methylthioadenosine phosphorylase ISO DNA, protein:deletion, decreased expression:common bile duct: RGD PMID:15662124 RGD:2317954 NCBI chr 5:103,874,460...103,920,684
Ensembl chr 5:103,873,020...103,939,406
JBrowse link
G Muc1 mucin 1, cell surface associated disease_progression ISO protein:increased expression:bile duct RGD PMID:8766528 RGD:2324856 NCBI chr 2:174,635,989...174,640,738
Ensembl chr 2:174,635,995...174,640,733
JBrowse link
G Muc4 mucin 4, cell surface associated ISO protein:increased expression:pancreas RGD PMID:8143972 RGD:2324890 NCBI chr11:68,008,245...68,053,242 JBrowse link
G Muc5ac mucin 5AC, oligomeric mucus/gel-forming ISO protein:altered expression:pancreas RGD PMID:8143972 RGD:2324890 NCBI chr 1:196,864,336...196,896,475
Ensembl chr 1:196,864,336...196,896,475
JBrowse link
G Tymp thymidine phosphorylase disease_progression ISO RGD PMID:10760693 RGD:2325158 NCBI chr 7:120,438,768...120,444,088
Ensembl chr 7:120,438,770...120,443,874
Ensembl chr 7:120,438,770...120,443,874
JBrowse link
duodenal gastrinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Men1 menin 1 ISO associated with Neuroendocrine Tumors; DNA:loss of heterozygosity: : RGD PMID:17135306 RGD:2317341 NCBI chr 1:203,638,905...203,644,871
Ensembl chr 1:203,639,000...203,644,871
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 chr16:6,446,709...6,455,535
Ensembl chr16:6,446,709...6,455,535
JBrowse link
G Pbrm1 polybromo 1 disease_progression ISO RGD PMID:25536104 RGD:150340631 NCBI chr16:6,213,507...6,312,895
Ensembl chr16:6,213,300...6,311,780
JBrowse link
G Rac1 Rac family small GTPase 1 ISO protein:increased expression:mucosa (human) RGD PMID:21537609 RGD:153350126 NCBI chr12:11,037,028...11,057,251
Ensembl chr12:11,036,698...11,057,251
JBrowse link
G Slc7a5 solute carrier family 7 member 5 disease_progression ISO RGD PMID:24890221 RGD:151361210 NCBI chr19:49,935,220...49,963,823
Ensembl chr19:49,935,220...49,963,823
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 chr10:13,573,779...13,621,138
Ensembl chr10:13,573,021...13,621,128
JBrowse link
G Pold1 DNA polymerase delta 1, catalytic subunit ISO ClinVar Annotator: match by term: Extrahepatic bile duct cancer ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 1:95,025,462...95,041,559
Ensembl chr 1:95,025,499...95,036,465
JBrowse link
G Xpo1 exportin 1 disease_progression ISO protein:increased expression:extrahepatic bile duct (human) RGD PMID:27279267 RGD:151665800 NCBI chr14:97,233,282...97,275,536
Ensembl chr14:97,233,270...97,275,498
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 chr12:41,638,536...41,672,806
Ensembl chr12:41,645,587...41,672,104
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 5:139,633,324...139,635,857
Ensembl chr 5:139,633,287...139,635,925
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 chr10:13,621,135...13,655,773
Ensembl chr10:13,621,136...13,655,951
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 4:154,897,770...154,947,787
Ensembl chr 4:154,897,877...154,947,786
JBrowse link
G Carm1 coactivator-associated arginine methyltransferase 1 IEP mRNA,protein:increased expression:liver: RGD PMID:23912631 RGD:9586718 NCBI chr 8:20,097,262...20,141,950
Ensembl chr 8:20,097,254...20,147,689
JBrowse link
G Cdkn1b cyclin-dependent kinase inhibitor 1B ISO CTD Direct Evidence: marker/mechanism CTD PMID:17620307 NCBI chr 4:167,760,067...167,765,177
Ensembl chr 4:167,760,181...167,764,982
JBrowse link
G Ctnnb1 catenin beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21147764 NCBI chr 8:120,640,008...120,667,110
Ensembl chr 8:120,639,995...120,667,111
JBrowse link
G Cyp2e1 cytochrome P450, family 2, subfamily e, polypeptide 1 treatment IEP RGD PMID:23543859 RGD:14700918 NCBI chr 1:195,840,330...195,850,728
Ensembl chr 1:195,840,058...195,864,023
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 chr12:41,638,536...41,672,806
Ensembl chr12:41,645,587...41,672,104
JBrowse link
G Hp haptoglobin IEP RGD PMID:10569800 RGD:1626391 NCBI chr19:37,539,626...37,544,178
Ensembl chr19:37,539,627...37,544,523
JBrowse link
G Hras HRas proto-oncogene, GTPase ISO CTD Direct Evidence: marker/mechanism CTD PMID:8200073 NCBI chr 1:196,290,127...196,299,823
Ensembl chr 1:196,296,263...196,300,615
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 4:178,185,418...178,218,484 JBrowse link
G Map3k8 mitogen-activated protein kinase kinase kinase 8 ameliorates ISO RGD PMID:26560698 RGD:11342977 NCBI chr17:53,382,908...53,403,216
Ensembl chr17:53,383,131...53,403,216
JBrowse link
G Mki67 marker of proliferation Ki-67 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31939706 NCBI chr 1:190,496,319...190,522,983
Ensembl chr 1:190,496,319...190,522,762
JBrowse link
G Nr1h4 nuclear receptor subfamily 1, group H, member 4 ISO RGD PMID:17183066 RGD:14696794 NCBI chr 7:23,846,122...23,942,085
Ensembl chr 7:23,846,122...23,942,047
JBrowse link
G Nr1i3 nuclear receptor subfamily 1, group I, member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25656644 NCBI chr13:83,632,940...83,638,193
Ensembl chr13:83,632,899...83,637,906
JBrowse link
G Pten phosphatase and tensin homolog ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:27022031 PMID:15199412 RGD:1302555 NCBI chr 1:230,630,443...230,697,070
Ensembl chr 1:230,630,338...230,696,838
JBrowse link
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 ISS MouseDO NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925
JBrowse link
G Tmem70 transmembrane protein 70 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27914986 NCBI chr 5:2,637,102...2,654,729
Ensembl chr 5:2,637,102...2,654,729
JBrowse link
G Ube2e2 ubiquitin-conjugating enzyme E2E 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27914986 NCBI chr15:6,980,241...7,257,912
Ensembl chr15:6,980,474...7,257,532
JBrowse link
insulinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adm adrenomedullin ISO protein:increased expression:pancreas, plasma RGD PMID:11331218 RGD:2325319 NCBI chr 1:164,745,484...164,747,655
Ensembl chr 1:164,745,466...164,747,654
JBrowse link
G Btc betacellulin ISO protein:increased expression:pancreas RGD PMID:10724350 RGD:2326087 NCBI chr14:16,708,447...16,746,961
Ensembl chr14:16,707,982...16,747,049
JBrowse link
G Cd40 CD40 molecule ISO RGD PMID:17982058 RGD:5491180 NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534
JBrowse link
G Cux1 cut-like homeobox 1 disease_progression
exacerbates
ISO mRNA:increased expression:pancreas (mouse)
protein:increased expression:pancreas (human)
RGD PMID:25248790 PMID:25248790 RGD:152985543, RGD:152985543 NCBI chr12:20,107,062...20,425,868
Ensembl chr12:20,107,311...20,425,866
JBrowse link
G Cxcl12 C-X-C motif chemokine ligand 12 ISO protein:increased expression:pancreas RGD PMID:19013212 RGD:2317608 NCBI chr 4:150,388,326...150,401,173
Ensembl chr 4:150,388,325...150,401,168
JBrowse link
G Ins2 insulin 2 ISO protein:altered expression:blood
protein:altered localization:pancreas
RGD PMID:8175958 PMID:2565624 RGD:2317266, RGD:2317268 NCBI chr 1:197,843,277...197,992,522
Ensembl chr 1:197,843,281...197,864,775
JBrowse link
G Men1 menin 1 disease_progression ISO DNA:deletion:exon
CTD Direct Evidence: marker/mechanism
DNA:deletions:exons
CTD
RGD
PMID:17961653 PMID:12941803 PMID:20138042 PMID:19208834 RGD:2317292, RGD:2317288, RGD:2317310 NCBI chr 1:203,638,905...203,644,871
Ensembl chr 1:203,639,000...203,644,871
JBrowse link
G Ncam1 neural cell adhesion molecule 1 ISO protein:increased expression:pancreas RGD PMID:8972754 RGD:2326080 NCBI chr 8:49,865,629...50,165,687
Ensembl chr 8:49,865,633...50,166,014
JBrowse link
G Rps15 ribosomal protein S15 IEP RGD PMID:3019805 RGD:61740 NCBI chr 7:9,416,003...9,417,442
Ensembl chr 7:9,416,004...9,417,450
JBrowse link
G Slc2a2 solute carrier family 2 member 2 ISO protein:increased expression:pancreatic B cell
mRNA:decreased expression:pancreatic islet
RGD PMID:12114701 PMID:8421107 RGD:2324976, RGD:2324977 NCBI chr 2:111,609,798...111,639,930
Ensembl chr 2:111,611,774...111,639,933
JBrowse link
G Tgfa transforming growth factor alpha ISO protein:increased expression:pancreas RGD PMID:8712689 RGD:2317472 NCBI chr 4:118,618,043...118,700,897
Ensembl chr 4:118,618,269...118,700,894
JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO mRNA, protein:decreased expression:pancreatic islet RGD PMID:18058603 RGD:2325017 NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
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 chr18:25,828,558...25,925,511
Ensembl chr18:25,864,222...25,922,696
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 5:145,908,173...145,981,552
Ensembl chr 5:145,908,181...145,985,564
JBrowse link
G Bap1 BRCA1 associated deubiquitinase 1 disease_progression ISO RGD PMID:27864835 RGD:150340628 NCBI chr16:6,446,709...6,455,535
Ensembl chr16:6,446,709...6,455,535
JBrowse link
G Becn1 beclin 1 disease_progression ISO RGD PMID:30849962 RGD:14974231 NCBI chr10:86,231,387...86,246,742
Ensembl chr10:86,231,388...86,246,742
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 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463
JBrowse link
G Fas Fas cell surface death receptor disease_progression ISO RGD PMID:11003620 RGD:14700701 NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
JBrowse link
G Faslg Fas ligand severity ISO RGD PMID:11003620 RGD:14700701 NCBI chr13:74,151,519...74,172,760
Ensembl chr13:74,154,954...74,162,215
JBrowse link
G Foxp3 forkhead box P3 IDA DNA:hypomethylation:liver RGD PMID:24291052 RGD:38599002 NCBI chr  X:14,908,494...14,924,994
Ensembl chr  X:14,908,494...14,923,838
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 6:129,702,376...129,707,907
Ensembl chr 6:129,702,383...129,707,268
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 9:15,432,986...15,438,358
Ensembl chr 9:15,433,691...15,438,488
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 9:66,534,146...66,563,703
Ensembl chr 9:66,534,146...66,563,708
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 1:134,038,644...134,057,969
Ensembl chr 1:134,029,772...134,058,025
JBrowse link
G Kdm5c lysine demethylase 5C exacerbates ISO protein:decreased expression:bile duct (human) RGD PMID:32714863 RGD:151361175 NCBI chr  X:21,345,459...21,387,045
Ensembl chr  X:21,345,481...21,381,870
JBrowse link
G Kras KRAS proto-oncogene, GTPase disease_progression ISS
ISO
DNA:mutations:: MouseDO
RGD
PMID:24139215 RGD:14398746 NCBI chr 4:178,185,418...178,218,484 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 3:15,680,688...15,684,033
Ensembl chr 3:15,680,687...15,684,095
JBrowse link
G Lrp1b LDL receptor related protein 1B exacerbates ISO DNA:mutations:multiple: (human) RGD PMID:33014052 RGD:150429786 NCBI chr 3:24,594,302...26,715,037
Ensembl chr 3:24,594,991...26,715,505
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 4:126,205,663...126,811,354
Ensembl chr 4:126,206,816...126,811,691
JBrowse link
G Mir152 microRNA 152 ISO miRNA:decreased expression:intrahepatic bile duct RGD PMID:28921383 RGD:19165148 NCBI chr10:81,832,936...81,833,020
Ensembl chr10:81,832,936...81,833,020
JBrowse link
G Mir200b microRNA 200b ISO RNA:increased expression:liver RGD PMID:27685844 RGD:14928335 NCBI chr 5:166,649,272...166,649,366
Ensembl chr 5:166,649,272...166,649,366
JBrowse link
G Mir21 microRNA 21 ISO RNA:increased expression:liver,plasma RGD PMID:27685844 RGD:14928335 NCBI chr10:71,405,257...71,405,348
Ensembl chr10:71,405,257...71,405,348
JBrowse link
G Mir221 microRNA 221 severity ISO RGD PMID:27685844 RGD:14928335 NCBI chr  X:3,429,465...3,429,573
Ensembl chr  X:3,429,465...3,429,573
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 chr16:6,213,507...6,312,895
Ensembl chr16:6,213,300...6,311,780
JBrowse link
G Pten phosphatase and tensin homolog disease_progression ISO protein:decreased expression:liver (human) RGD PMID:24796583 RGD:152177907 NCBI chr 1:230,630,443...230,697,070
Ensembl chr 1:230,630,338...230,696,838
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 chr10:72,461,508...72,537,301
Ensembl chr10:72,464,348...72,536,977
JBrowse link
G Runx1 RUNX family transcription factor 1 ISO mRNA:increased expression:intrahepatic bile duct RGD PMID:31015363 RGD:126775143 NCBI chr11:31,839,880...32,074,427
Ensembl chr11:31,843,764...32,074,542
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 chr20:12,372,866...12,381,619
Ensembl chr20:12,372,881...12,394,743
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 chr18:67,243,742...67,274,438
Ensembl chr18:67,243,742...67,274,438
JBrowse link
G Tep1 telomerase associated protein 1 ISO mRNA:increased expression:hepatocyte,biliary epithelium. RGD PMID:10498642 RGD:152977753 NCBI chr15:24,045,876...24,093,526
Ensembl chr15:24,045,878...24,093,526
JBrowse link
G Terc telomerase RNA component ISO RNA:increased expression:hepatocyte,biliary epithelium. RGD PMID:10498642 RGD:152977753 NCBI chr 2:112,815,654...112,816,041 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 chr18:25,828,558...25,925,511
Ensembl chr18:25,864,222...25,922,696
JBrowse link
G Arid1a AT-rich interaction domain 1A disease_progression ISO DNA:deletions RGD PMID:33387086 RGD:126848756 NCBI chr 5:145,908,173...145,981,552
Ensembl chr 5:145,908,181...145,985,564
JBrowse link
G Gata6 GATA binding protein 6 sexual_dimorphism ISO DNA:mutations RGD PMID:33387086 RGD:126848756 NCBI chr18:2,188,121...2,219,532
Ensembl chr18:2,188,121...2,219,532
JBrowse link
G Kmt2c lysine methyltransferase 2C onset ISO DNA:mutations RGD PMID:33387086 RGD:126848756 NCBI chr 4:9,620,638...9,834,787
Ensembl chr 4:9,609,627...9,833,539
JBrowse link
G Kras KRAS proto-oncogene, GTPase disease_progression ISO DNA:mutations RGD PMID:33387086 RGD:126848756 NCBI chr 4:178,185,418...178,218,484 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 5:7,937,692...8,253,112
Ensembl chr 5:7,942,573...8,253,068
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 5:63,889,045...63,902,086
Ensembl chr 5:63,889,046...63,902,116
JBrowse link
G Apobec1 apolipoprotein B mRNA editing enzyme catalytic subunit 1 IMP RGD PMID:9633945 RGD:10755510 NCBI chr 4:155,800,030...155,828,515
Ensembl chr 4:155,800,887...155,827,390
JBrowse link
G Cbx7 chromobox 7 ISO RGD PMID:22214847 RGD:9587356 NCBI chr 7:111,460,656...111,479,231
Ensembl chr 7:111,460,656...111,477,973
JBrowse link
G Cdkn1a cyclin-dependent kinase inhibitor 1A IEP protein:increased expression:liver RGD PMID:23890812 RGD:13792775 NCBI chr20:7,149,177...7,159,727
Ensembl chr20:7,149,217...7,159,585
JBrowse link
G Col1a1 collagen type I alpha 1 chain onset IEP mRNA:increased expression:liver (rat) RGD PMID:21295105 RGD:5130894 NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624
JBrowse link
G Eif4g2 eukaryotic translation initiation factor 4, gamma 2 ISO RGD PMID:9633945 RGD:10755510 NCBI chr 1:165,181,433...165,193,583
Ensembl chr 1:165,181,434...165,193,588
JBrowse link
G H2ax H2A.X variant histone treatment IEP RGD PMID:23474136 RGD:8693737 NCBI chr 8:44,671,907...44,673,262
Ensembl chr 8:44,671,786...44,673,239
JBrowse link
G Hspa4 heat shock protein family A (Hsp70) member 4 IEP protein:increased expression:liver (rat) RGD PMID:22213170 RGD:5686872 NCBI chr10:37,408,025...37,449,080
Ensembl chr10:37,408,025...37,449,001
JBrowse link
G Il10 interleukin 10 treatment IEP RGD PMID:25168696 RGD:11049493 NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
JBrowse link
G Kmt5c lysine methyltransferase 5C disease_progression IEP protein:decreased expression:liver RGD PMID:16497704 RGD:9586726 NCBI chr 1:69,099,531...69,107,145
Ensembl chr 1:69,099,539...69,107,145
JBrowse link
G Map2k3 mitogen activated protein kinase kinase 3 ISO RGD PMID:24233520 RGD:7495808 NCBI chr10:45,608,145...45,629,492
Ensembl chr10:45,607,163...45,629,492
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 4:45,790,456...45,898,139
Ensembl chr 4:45,790,791...45,897,876
JBrowse link
G Mthfr methylenetetrahydrofolate reductase onset IEP mRNA:decreased expression:liver (rat) RGD PMID:22213190 RGD:6893663 NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
JBrowse link
G Nqo1 NAD(P)H quinone dehydrogenase 1 IEP RGD PMID:24418717 RGD:11035219 NCBI chr19:35,295,633...35,310,528
Ensembl chr19:35,295,573...35,310,557
JBrowse link
G Ttpa alpha tocopherol transfer protein IEP mRNA:decreased expression:liver RGD PMID:9178827 RGD:1600436 NCBI chr 5:33,497,537...33,518,936
Ensembl chr 5:33,497,137...33,518,073
JBrowse link
G Tut4 terminal uridylyl transferase 4 ISO human cells in a mouse model RGD PMID:24056962 RGD:11530012 NCBI chr 5:123,201,723...123,306,582
Ensembl chr 5:123,203,003...123,306,465
JBrowse link
pancreatic mucinous cystadenoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kras KRAS proto-oncogene, GTPase severity ISO DNA:mutations:cds: RGD PMID:28570009 RGD:14398747 NCBI chr 4:178,185,418...178,218,484 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 chr18:25,828,558...25,925,511
Ensembl chr18:25,864,222...25,922,696
JBrowse link
pleomorphic adenoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Plag1 PLAG1 zinc finger ISO CTD Direct Evidence: marker/mechanism CTD
OMIM
RGD
PMID:10029085 RGD:1599086 NCBI chr 5:16,902,057...16,956,727
Ensembl chr 5:16,905,394...16,913,647
JBrowse link
rectal benign neoplasm 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 CTD Direct Evidence: marker/mechanism CTD PMID:8071957 PMID:11766074 NCBI chr18:25,828,558...25,925,511
Ensembl chr18:25,864,222...25,922,696
JBrowse link
G Cdkn1b cyclin-dependent kinase inhibitor 1B ISO CTD Direct Evidence: marker/mechanism CTD PMID:15525823 NCBI chr 4:167,760,067...167,765,177
Ensembl chr 4:167,760,181...167,764,982
JBrowse link
G Egfr epidermal growth factor receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:16839708 NCBI chr14:91,176,979...91,349,722
Ensembl chr14:91,177,067...91,344,382
JBrowse link
G Fos Fos proto-oncogene, AP-1 transcription factor subunit ISO RGD PMID:21975339 RGD:13210759 NCBI chr 6:105,121,170...105,124,036
Ensembl chr 6:105,121,170...105,124,036
JBrowse link
G Mapk8 mitogen-activated protein kinase 8 ISO DNA:SNP: :rs10508901 (human)
DNA:SNP: :rs10857561 (human)
RGD PMID:22199996 PMID:23027623 RGD:13217410, RGD:13217411 NCBI chr16:8,638,897...8,721,960
Ensembl chr16:8,638,924...8,721,981
JBrowse link
G Mcc MCC regulator of WNT signaling pathway ISO CTD Direct Evidence: marker/mechanism CTD PMID:8071957 NCBI chr18:36,794,206...37,266,237
Ensembl chr18:36,798,372...37,266,819
JBrowse link
G Mthfr methylenetetrahydrofolate reductase severity ISO DNA:transition:cds:g.677C>T (human) RGD PMID:21865946 RGD:6893664 NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
JBrowse link
G Muc2 mucin 2, oligomeric mucus/gel-forming ISO CTD Direct Evidence: marker/mechanism CTD PMID:12468628 NCBI chr 1:196,799,494...196,831,740
Ensembl chr 1:196,799,517...196,831,756
JBrowse link
G Nras NRAS proto-oncogene, GTPase ISO CTD Direct Evidence: marker/mechanism CTD PMID:3102434 NCBI chr 2:190,582,885...190,593,509
Ensembl chr 2:190,582,918...190,591,626
JBrowse link
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha susceptibility ISO DNA:SNP:intron: (rs7651265) (human) RGD PMID:20622004 RGD:5685669 NCBI chr 2:115,175,275...115,249,034
Ensembl chr 2:115,174,984...115,249,032
JBrowse link
G Pik3cb phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta disease_progression ISO RGD PMID:25473181 RGD:13432031 NCBI chr 8:99,594,600...99,699,772
Ensembl chr 8:99,594,644...99,699,663
JBrowse link
G Pmepa1 prostate transmembrane protein, androgen induced 1 ISO mRNA:increased expression:rectum RGD PMID:11568975 RGD:2315108 NCBI chr 3:162,011,884...162,060,343
Ensembl chr 3:162,012,751...162,060,454
JBrowse link
G Tyms thymidylate synthetase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16931962 NCBI chr 9:113,313,454...113,329,551
Ensembl chr 9:113,313,452...113,329,536
JBrowse link
G Wrap53 WD repeat containing, antisense to TP53 treatment ISO RGD PMID:22805008 RGD:21081677 NCBI chr10:54,282,092...54,299,908
Ensembl chr10:54,282,105...54,298,929
JBrowse link
sigmoid neoplasm 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: Sigmoid colon cancer ClinVar PMID:25741868 PMID:28492532 NCBI chr18:25,828,558...25,925,511
Ensembl chr18:25,864,222...25,922,696
JBrowse link
G Msh2 mutS homolog 2 ISO ClinVar Annotator: match by term: Sigmoid colon cancer ClinVar PMID:10495924 PMID:12658575 PMID:15849733 PMID:17312306 PMID:18566915 More... NCBI chr 6:6,813,793...6,872,960
Ensembl chr 6:6,813,795...6,872,938
JBrowse link
G Msh6 mutS homolog 6 ISO ClinVar Annotator: match by term: Sigmoid colon cancer ClinVar PMID:9354786 PMID:12376507 PMID:18809606 PMID:19924528 PMID:20176959 More... NCBI chr 6:6,562,631...6,579,995
Ensembl chr 6:6,562,632...6,579,956
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19047
    disease of cellular proliferation 7792
      benign neoplasm 2230
        organ system benign neoplasm 1295
          gastrointestinal system benign neoplasm 234
            appendix leiomyoma 0
            esophageal lipoma 0
            esophagus leiomyoma 0
            esophagus squamous cell papilloma 0
            gastric hemangioma 0
            gastric leiomyoma 0
            gastric teratoma + 0
            gastrointestinal adenoma 0
            gastrointestinal neuroendocrine benign tumor + 0
            hepatobiliary benign neoplasm + 182
            intestinal benign neoplasm + 56
            lipoadenoma 0
            pancreatic cystadenoma + 13
            pancreatic intraductal papillary-mucinous adenoma 0
            pleomorphic adenoma 1
            squamous papillomatosis 0
Path 2
Term Annotations click to browse term
  disease 19047
    disease of anatomical entity 18381
      gastrointestinal system disease 7172
        Digestive System Neoplasms 3855
          Gastrointestinal Neoplasms 3731
            gastrointestinal system benign neoplasm 234
              appendix leiomyoma 0
              esophageal lipoma 0
              esophagus leiomyoma 0
              esophagus squamous cell papilloma 0
              gastric hemangioma 0
              gastric leiomyoma 0
              gastric teratoma + 0
              gastrointestinal adenoma 0
              gastrointestinal neuroendocrine benign tumor + 0
              hepatobiliary benign neoplasm + 182
              intestinal benign neoplasm + 56
              lipoadenoma 0
              pancreatic cystadenoma + 13
              pancreatic intraductal papillary-mucinous adenoma 0
              pleomorphic adenoma 1
              squamous papillomatosis 0
paths to the root