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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)
For additional species annotation, visit the Alliance of Genome Resources.


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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 EXP CTD Direct Evidence: therapeutic CTD PMID:12170190, PMID:12397731 NCBI chr 9:21,077,104...21,077,942
Ensembl chr 9:21,077,104...21,077,942
JBrowse link
appendiceal neoplasm term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NAP1L1 nucleosome assembly protein 1 like 1 severity IEP mRNA:increased expression:appendix, mucosa (human) RGD PMID:16794389 RGD:9590083 NCBI chr12:76,036,585...76,084,687
Ensembl chr12:76,036,585...76,084,735
Ensembl chr12:76,036,585...76,084,735
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 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929
Ensembl chr 7:140,719,327...140,924,929
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 IAGP DNA:polymorphisms:intron, exon:IVS6+360C>T, 56C>T (human) RGD PMID:18296645 RGD:2317550 NCBI chr 2:21,001,429...21,044,073
Ensembl chr 2:21,001,429...21,044,073
JBrowse link
G APOE apolipoprotein E susceptibility IAGP DNA:SNP:intron:rs440446 (human) RGD PMID:18296645 RGD:2317550 NCBI chr19:44,905,796...44,909,393
Ensembl chr19:44,905,791...44,909,393
JBrowse link
G TJP1 tight junction protein 1 IEP protein:decreased expression:bile duct RGD PMID:19184677 RGD:2325030 NCBI chr15:29,699,367...29,969,049
Ensembl chr15:29,699,367...29,968,865
JBrowse link
bile duct carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MSLN mesothelin IEP protein:increased expression:bile duct RGD PMID:17276942 RGD:2326059 NCBI chr16:760,734...768,865
Ensembl chr16:760,734...768,865
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 IEP mRNA:increased expression:bile duct RGD PMID:16673309 RGD:2325824 NCBI chr 8:61,500,556...61,714,609
Ensembl chr 8:61,500,556...61,714,640
JBrowse link
G EGFR epidermal growth factor receptor EXP CTD Direct Evidence: therapeutic CTD PMID:17341899 NCBI chr 7:55,019,017...55,211,628
Ensembl chr 7:55,019,017...55,211,628
JBrowse link
G FSCN1 fascin actin-bundling protein 1 disease_progression IEP protein:increased expression:bile duct RGD PMID:17419223 RGD:2317786 NCBI chr 7:5,592,816...5,606,655
Ensembl chr 7:5,592,816...5,606,655
JBrowse link
G IL6 interleukin 6 disease_progression IEP protein:increased expression:serum RGD PMID:17617204 RGD:2317166 NCBI chr 7:22,725,889...22,732,002
Ensembl chr 7:22,725,884...22,732,002
JBrowse link
G MET MET proto-oncogene, receptor tyrosine kinase IEP protein:increased expression:intrahepatic bile duct (human) RGD PMID:15892172 RGD:2317585 NCBI chr 7:116,672,196...116,798,386
Ensembl chr 7:116,672,196...116,798,386
JBrowse link
G MGMT O-6-methylguanine-DNA methyltransferase severity IEP protein:decreased expression:carcinoma of extrahepatic bile duct (human) RGD PMID:11986189 RGD:2317662 NCBI chr10:129,467,241...129,770,983
Ensembl chr10:129,467,190...129,770,983
JBrowse link
G MKI67 marker of proliferation Ki-67 disease_progression IEP RGD PMID:9869516 RGD:2317706 NCBI chr10:128,096,659...128,126,423
Ensembl chr10:128,096,659...128,126,423
JBrowse link
G MUC16 mucin 16, cell surface associated IEP protein:increased expression:serum,bile RGD PMID:1657243 RGD:2325134 NCBI chr19:8,848,840...9,010,390
Ensembl chr19:8,848,844...8,981,342
JBrowse link
G MUC4 mucin 4, cell surface associated disease_progression IEP protein:increased expression:bile duct RGD PMID:16857800 RGD:2324929 NCBI chr 3:195,746,771...195,811,929
Ensembl chr 3:195,746,765...195,811,973
JBrowse link
G NCAM1 neural cell adhesion molecule 1 disease_progression IEP
IDA
RGD PMID:8501910, PMID:9851639 RGD:2326077, RGD:2326076 NCBI chr11:112,961,420...113,278,436
Ensembl chr11:112,961,247...113,278,436
JBrowse link
G RUNX3 RUNX family transcription factor 3 IDA DNA:hypermethylation:promoter RGD PMID:15471559 RGD:2324957 NCBI chr 1:24,899,511...24,965,158
Ensembl chr 1:24,899,511...24,965,121
JBrowse link
G ZNF667-AS1 ZNF667 antisense RNA 1 (head to head) EXP CTD Direct Evidence: marker/mechanism CTD PMID:29707199 NCBI chr19:56,477,874...56,495,437
Ensembl chr19:56,477,250...56,504,362
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 IDA RGD PMID:20358256 RGD:2325676 NCBI chr 4:73,404,287...73,421,482
Ensembl chr 4:73,397,114...73,421,482
JBrowse link
G CTPS1 CTP synthase 1 IEP mRNA:increased expression:biliary tract neoplasm (human) RGD PMID:12819026 RGD:2317903 NCBI chr 1:40,979,696...41,012,565
Ensembl chr 1:40,979,688...41,012,565
JBrowse link
G ELF3 E74 like ETS transcription factor 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:26258846 NCBI chr 1:202,010,583...202,017,183
Ensembl chr 1:202,007,945...202,017,183
JBrowse link
G FASLG Fas ligand IEP protein:decreased expression:serum
associated with Biliary Tract Disease;protein:decreased expression:serum
RGD PMID:15138553, PMID:15287856 RGD:2317743, RGD:2317742 NCBI chr 1:172,659,103...172,666,876
Ensembl chr 1:172,659,103...172,666,876
JBrowse link
G HGF hepatocyte growth factor IEP mRNA:increased expression: : RGD PMID:12819026 RGD:2317903 NCBI chr 7:81,699,006...81,770,438
Ensembl chr 7:81,699,010...81,770,438
JBrowse link
G IL4 interleukin 4 IMP RGD PMID:18798553 RGD:2317263 NCBI chr 5:132,673,989...132,682,678
Ensembl chr 5:132,673,986...132,682,678
JBrowse link
G IL6 interleukin 6 IEP RGD PMID:18159174 RGD:2317165 NCBI chr 7:22,725,889...22,732,002
Ensembl chr 7:22,725,884...22,732,002
JBrowse link
G MDM2 MDM2 proto-oncogene IEP protein:increased expression:biliary epithelium (human) RGD PMID:16505435 RGD:2317415 NCBI chr12:68,808,149...68,850,686
Ensembl chr12:68,808,177...68,850,686
JBrowse link
G MTAP methylthioadenosine phosphorylase IDA RGD PMID:16373701 RGD:2317953 NCBI chr 9:21,802,636...21,867,081
Ensembl chr 9:21,802,636...21,937,651
JBrowse link
G MUC1 mucin 1, cell surface associated IDA RGD PMID:19129927 RGD:2317987 NCBI chr 1:155,185,824...155,192,915
Ensembl chr 1:155,185,824...155,192,916
JBrowse link
G MUC4 mucin 4, cell surface associated IEP protein:increased expression:bile,biliary tract RGD PMID:18475301 RGD:2324916 NCBI chr 3:195,746,771...195,811,929
Ensembl chr 3:195,746,765...195,811,973
JBrowse link
G MUC5AC mucin 5AC, oligomeric mucus/gel-forming disease_progression IEP protein:increased expression:serum RGD PMID:18475301 RGD:2324916 NCBI chr11:1,157,953...1,201,138
Ensembl chr11:1,157,953...1,201,138
JBrowse link
G PRKACB protein kinase cAMP-activated catalytic subunit beta EXP CTD Direct Evidence: marker/mechanism CTD PMID:26258846 NCBI chr 1:84,078,079...84,238,498
Ensembl chr 1:84,078,062...84,238,498
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 IAGP DNA:polymorphism:exon:c.3972C>T (human) RGD PMID:19451719 RGD:2317508 NCBI chr10:99,782,602...99,853,741
Ensembl chr10:99,782,640...99,852,594
JBrowse link
G ADRB2 adrenoceptor beta 2 IEP protein:decreased expression:liver RGD PMID:16292515 RGD:2325640 NCBI chr 5:148,826,611...148,828,623
Ensembl chr 5:148,825,245...148,828,687
JBrowse link
G ALB albumin disease_progression IEP
IDA
RGD PMID:20431764, PMID:10776430, PMID:17545000 RGD:2325679, RGD:2325682, RGD:2325680 NCBI chr 4:73,404,287...73,421,482
Ensembl chr 4:73,397,114...73,421,482
JBrowse link
G ALOX5 arachidonate 5-lipoxygenase IEP protein:increased expression:bile duct RGD PMID:18507031 RGD:2317521 NCBI chr10:45,374,209...45,446,121
Ensembl chr10:45,374,176...45,446,119
JBrowse link
G ANXA2 annexin A2 disease_progression IEP RGD PMID:20493868 RGD:2325728 NCBI chr15:60,347,151...60,398,025
Ensembl chr15:60,347,134...60,402,883
JBrowse link
G ANXA8 annexin A8 IEP RGD PMID:19376120 RGD:2325733 NCBI chr10:47,467,993...47,991,879
Ensembl chr10:47,460,162...47,484,158
JBrowse link
G APC APC regulator of WNT signaling pathway IDA
IAGP
DNA:hypermethylation:promoter
DNA:loss of heterozygosity
RGD PMID:15467712, PMID:10212000 RGD:2317198, RGD:2317205 NCBI chr 5:112,707,498...112,846,239
Ensembl chr 5:112,707,498...112,846,239
JBrowse link
G APOA1 apolipoprotein A1 IEP protein:decreased expression:serum RGD PMID:19486127 RGD:2325756 NCBI chr11:116,835,751...116,837,950
Ensembl chr11:116,835,751...116,837,622
Ensembl chr11:116,835,751...116,837,622
JBrowse link
G ARID1A AT-rich interaction domain 1A EXP CTD Direct Evidence: marker/mechanism CTD PMID:24185509 NCBI chr 1:26,696,015...26,782,104
Ensembl chr 1:26,693,236...26,782,104
JBrowse link
G ASPH aspartate beta-hydroxylase IDA RGD PMID:21898484 RGD:6902945 NCBI chr 8:61,500,556...61,714,609
Ensembl chr 8:61,500,556...61,714,640
JBrowse link
G BAP1 BRCA1 associated protein 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:24185509, PMID:25231345 NCBI chr 3:52,401,004...52,410,030
Ensembl chr 3:52,401,008...52,410,008
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 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929
Ensembl chr 7:140,719,327...140,924,929
JBrowse link
G CDKN2A cyclin dependent kinase inhibitor 2A onset IEP protein:decreased expression:liver RGD PMID:15619210 RGD:2317417 NCBI chr 9:21,967,752...21,995,324
Ensembl chr 9:21,967,753...21,995,301
JBrowse link
G CYCS cytochrome c, somatic IDA RGD PMID:19788692 RGD:2317615 NCBI chr 7:25,118,656...25,125,260
Ensembl chr 7:25,118,656...25,125,260
Ensembl chr 7:25,118,656...25,125,260
JBrowse link
G EGFR epidermal growth factor receptor EXP CTD Direct Evidence: therapeutic CTD PMID:17341899 NCBI chr 7:55,019,017...55,211,628
Ensembl chr 7:55,019,017...55,211,628
JBrowse link
G EPO erythropoietin ISO mRNA, protein:increased expression:liver RGD PMID:23052842 RGD:10400912 NCBI chr 7:100,720,468...100,723,700
Ensembl chr 7:100,720,468...100,723,700
JBrowse link
G EPOR erythropoietin receptor ISO mRNA, protein:increased expression:liver RGD PMID:23052842 RGD:10400912 NCBI chr19:11,377,207...11,384,314
Ensembl chr19:11,377,207...11,384,342
JBrowse link
G ERBB2 erb-b2 receptor tyrosine kinase 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16818635 NCBI chr17:39,688,094...39,728,660
Ensembl chr17:39,687,914...39,730,426
JBrowse link
G FASLG Fas ligand IDA RGD PMID:11029528 RGD:2317746 NCBI chr 1:172,659,103...172,666,876
Ensembl chr 1:172,659,103...172,666,876
JBrowse link
G FGF2 fibroblast growth factor 2 IEP protein:increased expression:bile RGD PMID:11478488 RGD:2317765 NCBI chr 4:122,826,708...122,898,236
Ensembl chr 4:122,826,708...122,898,236
JBrowse link
G FGFR2 fibroblast growth factor receptor 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:26258846 NCBI chr10:121,478,330...121,598,458
Ensembl chr10:121,478,334...121,598,458
Ensembl chr10:121,478,334...121,598,458
JBrowse link
G FSCN1 fascin actin-bundling protein 1 disease_progression IEP protein:increased expression:bile ducts RGD PMID:19721413 RGD:2317780 NCBI chr 7:5,592,816...5,606,655
Ensembl chr 7:5,592,816...5,606,655
JBrowse link
G GNAS GNAS complex locus disease_progression IAGP
EXP
DNA:polymorphism:393T>C (human)
CTD Direct Evidence: marker/mechanism
CTD PMID:22561520, PMID:17356712 RGD:1601377 NCBI chr20:58,839,681...58,911,192
Ensembl chr20:58,839,718...58,911,192
JBrowse link
G GSTM1 glutathione S-transferase mu 1 IAGP RGD PMID:24049014 RGD:14700980 NCBI chr 1:109,687,817...109,693,745
Ensembl chr 1:109,687,814...109,709,039
JBrowse link
G GSTP1 glutathione S-transferase pi 1 treatment IDA
IMP
DNA:hypermethylation:promoter
human cell line in a mouse model
RGD PMID:15467712, PMID:12805482 RGD:2317198, RGD:14401711 NCBI chr11:67,583,812...67,586,653
Ensembl chr11:67,583,742...67,586,656
Ensembl chr11:67,583,742...67,586,656
JBrowse link
G HDAC6 histone deacetylase 6 IEP protein:increased expression:liver: RGD PMID:23370327 RGD:9681560 NCBI chr  X:48,801,398...48,824,982
Ensembl chr  X:48,801,377...48,824,982
JBrowse link
G HGF hepatocyte growth factor ISO
IEP
mRNA, protein:increased expression: :
protein:increased expression:serum
RGD PMID:10827151, PMID:16974053 RGD:2317925, RGD:2317909 NCBI chr 7:81,699,006...81,770,438
Ensembl chr 7:81,699,010...81,770,438
JBrowse link
G IDH1 isocitrate dehydrogenase (NADP(+)) 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:24185509 NCBI chr 2:208,236,227...208,255,071
Ensembl chr 2:208,236,229...208,266,074
Ensembl chr 2:208,236,229...208,266,074
JBrowse link
G IDH2 isocitrate dehydrogenase (NADP(+)) 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:24185509 NCBI chr15:90,083,045...90,102,468
Ensembl chr15:90,083,045...90,102,504
Ensembl chr15:90,083,045...90,102,504
JBrowse link
G IL4R interleukin 4 receptor IEP mRNA:increased expression:bile duct RGD PMID:18798553 RGD:2317263 NCBI chr16:27,313,668...27,364,778
Ensembl chr16:27,313,668...27,364,778
JBrowse link
G IL6 interleukin 6 IEP
EXP
protein:increased expression:serum
CTD Direct Evidence: marker/mechanism
CTD PMID:17621267, PMID:15011822, PMID:28925763 RGD:2317167, RGD:14975292 NCBI chr 7:22,725,889...22,732,002
Ensembl chr 7:22,725,884...22,732,002
JBrowse link
G KMT2C lysine methyltransferase 2C EXP CTD Direct Evidence: marker/mechanism CTD PMID:22561520 NCBI chr 7:152,134,925...152,436,642
Ensembl chr 7:152,134,922...152,436,003
Ensembl chr 7:152,134,922...152,436,003
JBrowse link
G KRAS KRAS proto-oncogene, GTPase EXP CTD Direct Evidence: marker/mechanism CTD PMID:8968066, PMID:22561520 NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936
JBrowse link
G KRT7 keratin 7 IEP RGD PMID:18393293 RGD:2317308 NCBI chr12:52,233,243...52,252,667
Ensembl chr12:52,232,520...52,252,186
JBrowse link
G MDM2 MDM2 proto-oncogene disease_progression IEP protein:increased expression:intrahepatic bile duct (human) RGD PMID:15619210 RGD:2317417 NCBI chr12:68,808,149...68,850,686
Ensembl chr12:68,808,177...68,850,686
JBrowse link
G MET MET proto-oncogene, receptor tyrosine kinase disease_progression IEP
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 7:116,672,196...116,798,386
Ensembl chr 7:116,672,196...116,798,386
JBrowse link
G MGMT O-6-methylguanine-DNA methyltransferase IAGP DNA:hypermethylation:promoter (human) RGD PMID:17550320 RGD:2317632 NCBI chr10:129,467,241...129,770,983
Ensembl chr10:129,467,190...129,770,983
JBrowse link
G MIR155 microRNA 155 IEP miRNA:increased expression:serum RGD PMID:30653586 RGD:21081530 NCBI chr21:25,573,980...25,574,044
Ensembl chr21:25,573,980...25,574,044
JBrowse link
G MKI67 marker of proliferation Ki-67 disease_progression IEP RGD PMID:12903495 RGD:2317705 NCBI chr10:128,096,659...128,126,423
Ensembl chr10:128,096,659...128,126,423
JBrowse link
G MMP2 matrix metallopeptidase 2 disease_progression ISO
IEP
protein:increased expression:bile duct RGD PMID:15213623, PMID:19629755 RGD:2324667, RGD:2325769 NCBI chr16:55,478,830...55,506,691
Ensembl chr16:55,389,700...55,506,691
JBrowse link
G MMP9 matrix metallopeptidase 9 IEP
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 chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561
JBrowse link
G MSLN mesothelin EXP CTD Direct Evidence: marker/mechanism CTD PMID:14576474 NCBI chr16:760,734...768,865
Ensembl chr16:760,734...768,865
JBrowse link
G MTHFR methylenetetrahydrofolate reductase susceptibility IAGP DNA:polymorphism (human) RGD PMID:17201138 RGD:2317119 NCBI chr 1:11,785,723...11,806,103
Ensembl chr 1:11,785,723...11,806,455
Ensembl chr 1:11,785,723...11,806,455
JBrowse link
G MUC1 mucin 1, cell surface associated disease_progression IEP
ISO
mRNA:increased expression:bile duct
protein:increased expression:bile duct:
protein:increased expression:serum
protein:increased secretion:bile
RGD PMID:19639217, PMID:18081149, PMID:15213623, PMID:19260467, PMID:19055478 RGD:2317986, RGD:2324638, RGD:2324667, RGD:2324664, RGD:2324622 NCBI chr 1:155,185,824...155,192,915
Ensembl chr 1:155,185,824...155,192,916
JBrowse link
G MUC16 mucin 16, cell surface associated IEP associated with Opisthorchiasis;protein:increased expression:serum RGD PMID:1653472 RGD:2325142 NCBI chr19:8,848,840...9,010,390
Ensembl chr19:8,848,844...8,981,342
JBrowse link
G MUC2 mucin 2, oligomeric mucus/gel-forming IEP mRNA:decreased expression:bile duct RGD PMID:11680592 RGD:2324948 NCBI chr11:1,074,875...1,110,508
Ensembl chr11:1,074,875...1,110,511
JBrowse link
G MUC3A mucin 3A, cell surface associated IEP mRNA:decreased expression:bile duct RGD PMID:11680592 RGD:2324948 NCBI chr 7:100,949,534...100,968,347
Ensembl chr 7:100,949,534...100,968,347
JBrowse link
G MUC4 mucin 4, cell surface associated disease_progression IEP
ISO
protein:increased expression:bile duct RGD PMID:14752841, PMID:19082442 RGD:2324944, RGD:2303602 NCBI chr 3:195,746,771...195,811,929
Ensembl chr 3:195,746,765...195,811,973
JBrowse link
G MUC5AC mucin 5AC, oligomeric mucus/gel-forming disease_progression IEP protein:increased expression:serum
mRNA:increased expression:bile duct
RGD PMID:14508831, PMID:11680592 RGD:2324990, RGD:2324948 NCBI chr11:1,157,953...1,201,138
Ensembl chr11:1,157,953...1,201,138
JBrowse link
G MUC5B mucin 5B, oligomeric mucus/gel-forming IEP mRNA:decreased expression:bile duct RGD PMID:11680592 RGD:2324948 NCBI chr11:1,223,066...1,262,172
Ensembl chr11:1,223,066...1,262,172
JBrowse link
G MUC6 mucin 6, oligomeric mucus/gel-forming IEP protein:increased expression: : RGD PMID:10209489 RGD:2325167 NCBI chr11:1,012,823...1,036,718
Ensembl chr11:1,012,823...1,036,718
JBrowse link
G NAT2 N-acetyltransferase 2 IAGP DNA:polymorphisms (human) RGD PMID:15901993 RGD:2317172 NCBI chr 8:18,386,585...18,401,219
Ensembl chr 8:18,391,282...18,401,218
JBrowse link
G NCAM1 neural cell adhesion molecule 1 IEP associated with hepatitis RGD PMID:12031086 RGD:2326079 NCBI chr11:112,961,420...113,278,436
Ensembl chr11:112,961,247...113,278,436
JBrowse link
G NOS2 nitric oxide synthase 2 IEP
EXP
protein:increased expression:bile duct
CTD Direct Evidence: marker/mechanism
CTD PMID:16818635, PMID:16094703 RGD:2325280 NCBI chr17:27,756,766...27,800,529
Ensembl chr17:27,756,766...27,800,529
JBrowse link
G NOTCH1 notch receptor 1 IEP protein:increased expression:cholangiocyte RGD PMID:15887117 RGD:2325330 NCBI chr 9:136,494,433...136,546,048
Ensembl chr 9:136,494,433...136,546,048
JBrowse link
G NR1H4 nuclear receptor subfamily 1 group H member 4 disease_progression ISO mRNA:decreased expression:liver (rat) RGD PMID:24255171 RGD:15090822 NCBI chr12:100,473,866...100,564,414
Ensembl chr12:100,473,708...100,564,414
JBrowse link
G OGG1 8-oxoguanine DNA glycosylase disease_progression IAGP DNA:loss of heterozygosity (human) RGD PMID:11866974, PMID:11260864 RGD:2317134, RGD:2317136 NCBI chr 3:9,749,952...9,788,246
Ensembl chr 3:9,749,944...9,788,219
JBrowse link
G PAWR pro-apoptotic WT1 regulator IEP mRNA,protein:decreased expression:cholangiocyte: RGD PMID:20724592 RGD:9835357 NCBI chr12:79,584,879...79,691,097
Ensembl chr12:79,574,979...79,690,964
JBrowse link
G PBRM1 polybromo 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:24185509 NCBI chr 3:52,545,367...52,685,913
Ensembl chr 3:52,545,352...52,685,917
JBrowse link
G PEG3 paternally expressed 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22561520 NCBI chr19:56,810,082...56,840,726
Ensembl chr19:56,810,077...56,840,728
JBrowse link
G PRKACA protein kinase cAMP-activated catalytic subunit alpha EXP CTD Direct Evidence: marker/mechanism CTD PMID:26258846 NCBI chr19:14,091,688...14,117,762
Ensembl chr19:14,091,688...14,118,084
JBrowse link
G PRKACB protein kinase cAMP-activated catalytic subunit beta EXP CTD Direct Evidence: marker/mechanism CTD PMID:26258846 NCBI chr 1:84,078,079...84,238,498
Ensembl chr 1:84,078,062...84,238,498
JBrowse link
G PRSS2 serine protease 2 IEP protein:increased expression:serum RGD PMID:8621252 RGD:2324908 NCBI chr 7:142,770,970...142,774,560
Ensembl chr 7:142,760,398...142,774,564
JBrowse link
G PTEN phosphatase and tensin homolog ISO
EXP
CTD Direct Evidence: marker/mechanism CTD PMID:27022031, PMID:23376645 RGD:12802341 NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,863,625...87,971,930
JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 IEP
EXP
protein:increased expression:bile duct
CTD Direct Evidence: marker/mechanism
CTD PMID:16818635, PMID:19621664 RGD:2317180 NCBI chr 1:186,671,791...186,680,423
Ensembl chr 1:186,671,791...186,680,423
JBrowse link
G REG1A regenerating family member 1 alpha susceptibility IEP mRNA, protein:increased expression:liver (human) RGD PMID:11343228 RGD:10044031 NCBI chr 2:79,120,488...79,123,409
Ensembl chr 2:79,120,362...79,123,409
JBrowse link
G RNF43 ring finger protein 43 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22561520 NCBI chr17:58,352,500...58,418,894
Ensembl chr17:58,353,676...58,417,595
Ensembl chr17:58,353,676...58,417,595
Ensembl chr17:58,353,676...58,417,595
JBrowse link
G ROBO2 roundabout guidance receptor 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22561520 NCBI chr 3:75,906,675...77,649,964
Ensembl chr 3:75,906,695...77,649,964
JBrowse link
G RUNX3 RUNX family transcription factor 3 IEP protein:decreased expression:bile duct RGD PMID:19827872 RGD:2324955 NCBI chr 1:24,899,511...24,965,158
Ensembl chr 1:24,899,511...24,965,121
JBrowse link
G SLC5A5 solute carrier family 5 member 5 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17408651 NCBI chr19:17,871,394...17,895,175
Ensembl chr19:17,871,945...17,895,174
JBrowse link
G SMAD4 SMAD family member 4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22561520 NCBI chr18:51,030,213...51,085,042
Ensembl chr18:51,028,394...51,085,045
JBrowse link
G SOX17 SRY-box transcription factor 17 severity ISO RGD PMID:20816680 RGD:4889598 NCBI chr 8:54,457,935...54,460,892
Ensembl chr 8:54,457,935...54,460,892
JBrowse link
G TGFB1 transforming growth factor beta 1 disease_progression IEP
ISO
protein:increased expression:pancreas RGD PMID:16083599, PMID:12632524 RGD:2325020, RGD:1299231 NCBI chr19:41,330,323...41,353,922
Ensembl chr19:41,301,587...41,353,922
JBrowse link
G TGFBR2 transforming growth factor beta receptor 2 ISO mRNA:increased expression:bile duct RGD PMID:12632524 RGD:1299231 NCBI chr 3:30,606,472...30,694,142
Ensembl chr 3:30,606,601...30,694,142
Ensembl chr 3:30,606,601...30,694,142
JBrowse link
G THBS1 thrombospondin 1 disease_progression IEP
IDA
DNA:hypermethylation (human) RGD PMID:16465407, PMID:11927969, PMID:12213730 RGD:2325024, RGD:2325027, RGD:2325026 NCBI chr15:39,581,079...39,599,466
Ensembl chr15:39,581,079...39,599,466
JBrowse link
G TNC tenascin C severity ISO RGD PMID:20816680 RGD:4889598 NCBI chr 9:115,019,575...115,118,244
Ensembl chr 9:115,019,575...115,118,257
JBrowse link
G TP53 tumor protein p53 ISO
EXP
CTD Direct Evidence: marker/mechanism CTD PMID:16818635, PMID:22561520 NCBI chr17:7,668,402...7,687,550
Ensembl chr17:7,661,779...7,687,538
Ensembl chr17:7,661,779...7,687,538
JBrowse link
G UGT1A9 UDP glucuronosyltransferase family 1 member A9 IEP RGD PMID:9230212 RGD:2325161 NCBI chr 2:233,671,898...233,773,300
Ensembl chr 2:233,671,898...233,773,300
JBrowse link
colon adenoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CHKA choline kinase alpha IEP protein:increased expression:colonic mucosa (human) RGD PMID:10363580 RGD:10401945 NCBI chr11:68,052,859...68,121,389
Ensembl chr11:68,052,859...68,121,444
JBrowse link
G F5 coagulation factor V ISO protein:increased expression:serum RGD PMID:25200834 RGD:10449102 NCBI chr 1:169,511,951...169,586,630
Ensembl chr 1:169,511,951...169,586,588
Ensembl chr 1:169,511,951...169,586,588
JBrowse link
G RAC1 Rac family small GTPase 1 IEP RGD PMID:12865273 RGD:13432048 NCBI chr 7:6,374,527...6,403,967
Ensembl chr 7:6,374,527...6,403,967
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 IAGP ClinVar Annotator: match by term: Colorectal adenoma ClinVar PMID:2472832, PMID:10811618, PMID:11257105, PMID:11904335, PMID:16454848, PMID:18199528, PMID:18844223, PMID:20233475, PMID:21859464, PMID:22703879, PMID:22722839, PMID:22995991, PMID:23085758, PMID:23292937, PMID:23970361, PMID:24033266, PMID:24055113, PMID:24728327, PMID:24861525, PMID:25178641, PMID:25203624, PMID:25318351, PMID:25479140, PMID:25559809, PMID:25637381, PMID:25741868, PMID:25778705, PMID:25980754, PMID:26332594, PMID:26416840, PMID:26467025, PMID:26580448, PMID:27153395, PMID:27535533, PMID:27600092, PMID:28301460, PMID:28492532, PMID:28503720, PMID:28873162, PMID:29212164, PMID:30256826, PMID:30311386 NCBI chr 5:112,707,498...112,846,239
Ensembl chr 5:112,707,498...112,846,239
JBrowse link
G BIRC7 baculoviral IAP repeat containing 7 IEP RGD PMID:21122381 RGD:13217408 NCBI chr20:63,235,905...63,240,495
Ensembl chr20:63,235,883...63,240,495
JBrowse link
G FOS Fos proto-oncogene, AP-1 transcription factor subunit IEP RGD PMID:8264230 RGD:13210753 NCBI chr14:75,278,828...75,282,230
Ensembl chr14:75,278,826...75,282,230
JBrowse link
G GSTM1 glutathione S-transferase mu 1 susceptibility IAGP DNA:deletion:cds (human) RGD PMID:20375710 RGD:7495820 NCBI chr 1:109,687,817...109,693,745
Ensembl chr 1:109,687,814...109,709,039
JBrowse link
G GSTP1 glutathione S-transferase pi 1 IAGP DNA:SNP: :p.A114V (human) RGD PMID:20375710 RGD:7495820 NCBI chr11:67,583,812...67,586,653
Ensembl chr11:67,583,742...67,586,656
Ensembl chr11:67,583,742...67,586,656
JBrowse link
G JUN Jun proto-oncogene, AP-1 transcription factor subunit IEP RGD PMID:8264230 RGD:13210753 NCBI chr 1:58,780,791...58,784,047
Ensembl chr 1:58,780,791...58,784,047
JBrowse link
G MAPK8 mitogen-activated protein kinase 8 IEP
IDA
RGD PMID:21122381, PMID:23082052 RGD:13217408, RGD:13217413 NCBI chr10:48,306,673...48,439,360
Ensembl chr10:48,306,639...48,439,360
JBrowse link
G MIR224 microRNA 224 IEP mRNA:increased expression:colorectal mucosa: RGD PMID:25919696 RGD:14398749 NCBI chr  X:151,958,578...151,958,658
Ensembl chr  X:151,958,578...151,958,658
JBrowse link
G ODC1 ornithine decarboxylase 1 IAGP ClinVar Annotator: match by term: Colonic adenoma recurrence, reduced risk of ClinVar PMID:12810952 NCBI chr 2:10,439,968...10,448,327
Ensembl chr 2:10,439,968...10,448,327
JBrowse link
G RAF1 Raf-1 proto-oncogene, serine/threonine kinase IEP RGD PMID:21122381 RGD:13217408 NCBI chr 3:12,583,601...12,664,117
Ensembl chr 3:12,583,601...12,664,226
JBrowse link
G SMAD4 SMAD family member 4 IEP mRNA:increased expression:mucosa RGD PMID:11480790 RGD:21066339 NCBI chr18:51,030,213...51,085,042
Ensembl chr18:51,028,394...51,085,045
JBrowse link
G TNFRSF1A TNF receptor superfamily member 1A IEP protein:increased expression:serum, colorectal mucosa, epithelial cell RGD PMID:23082052 RGD:13217413 NCBI chr12:6,328,771...6,342,076
Ensembl chr12:6,328,757...6,342,114
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 IEP protein:increased expression:serum RGD PMID:18076041 RGD:2325763 NCBI chr 2:21,001,429...21,044,073
Ensembl chr 2:21,001,429...21,044,073
JBrowse link
G FSCN1 fascin actin-bundling protein 1 IEP mRNA, protein:increased expression: : RGD PMID:15136764 RGD:2317789 NCBI chr 7:5,592,816...5,606,655
Ensembl chr 7:5,592,816...5,606,655
JBrowse link
G MSLN mesothelin IEP protein:increased expression:common bile duct, ampulla of vater RGD PMID:16416732 RGD:2326064 NCBI chr16:760,734...768,865
Ensembl chr16:760,734...768,865
JBrowse link
G MTAP methylthioadenosine phosphorylase IEP DNA, protein:deletion, decreased expression:common bile duct: RGD PMID:15662124 RGD:2317954 NCBI chr 9:21,802,636...21,867,081
Ensembl chr 9:21,802,636...21,937,651
JBrowse link
G MUC1 mucin 1, cell surface associated disease_progression IEP protein:increased expression:bile duct RGD PMID:8766528 RGD:2324856 NCBI chr 1:155,185,824...155,192,915
Ensembl chr 1:155,185,824...155,192,916
JBrowse link
G MUC4 mucin 4, cell surface associated IEP protein:increased expression:pancreas RGD PMID:8143972 RGD:2324890 NCBI chr 3:195,746,771...195,811,929
Ensembl chr 3:195,746,765...195,811,973
JBrowse link
G MUC5AC mucin 5AC, oligomeric mucus/gel-forming IEP protein:altered expression:pancreas RGD PMID:8143972 RGD:2324890 NCBI chr11:1,157,953...1,201,138
Ensembl chr11:1,157,953...1,201,138
JBrowse link
G TYMP thymidine phosphorylase disease_progression IEP RGD PMID:10760693 RGD:2325158 NCBI chr22:50,525,752...50,530,085
Ensembl chr22:50,525,752...50,530,032
JBrowse link
duodenal gastrinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MEN1 menin 1 IAGP associated with Neuroendocrine Tumors; DNA:loss of heterozygosity: : RGD PMID:17135306 RGD:2317341 NCBI chr11:64,803,514...64,811,294
Ensembl chr11:64,803,510...64,811,294
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 IAGP ClinVar Annotator: match by term: Hepatic adenomas, familial ClinVar
OMIM
PMID:8866553, PMID:8945470, PMID:9032114, PMID:9045858, PMID:9075818, PMID:9166684, PMID:9313763, PMID:9392505, PMID:9439666, PMID:10333057, PMID:10447526, PMID:10754480, PMID:11058894, PMID:11315851, PMID:12050210, PMID:12355088, PMID:12530534, PMID:12574234, PMID:12618559, PMID:15649945, PMID:15928245, PMID:17054605, PMID:17407387, PMID:17440016, PMID:17573900, PMID:17937063, PMID:17989309, PMID:18414213, PMID:18672310, PMID:21051477, PMID:21628466, PMID:23551881, PMID:23607861, PMID:25174781, PMID:26467025 NCBI chr12:120,977,683...121,002,512
Ensembl chr12:120,978,543...121,002,512
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 chr16:2,047,804...2,089,491
Ensembl chr16:2,047,967...2,089,491
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 ISO
EXP
mRNA,protein:increased expression:liver:
CTD Direct Evidence: marker/mechanism
CTD PMID:15509519, PMID:15509519 RGD:1358261 NCBI chr12:9,067,708...9,116,229
Ensembl chr12:9,067,664...9,116,229
JBrowse link
G CARM1 coactivator associated arginine methyltransferase 1 ISO mRNA,protein:increased expression:liver: RGD PMID:23912631 RGD:9586718 NCBI chr19:10,871,553...10,923,078
Ensembl chr19:10,871,513...10,923,070
Ensembl chr19:10,871,513...10,923,070
JBrowse link
G CDKN1B cyclin dependent kinase inhibitor 1B EXP CTD Direct Evidence: marker/mechanism CTD PMID:17620307 NCBI chr12:12,717,368...12,722,369
Ensembl chr12:12,715,058...12,722,369
JBrowse link
G CTNNB1 catenin beta 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21147764 NCBI chr 3:41,199,422...41,240,445
Ensembl chr 3:41,194,741...41,260,096
JBrowse link
G CYP2E1 cytochrome P450 family 2 subfamily E member 1 treatment ISO RGD PMID:23543859 RGD:14700918 NCBI chr10:133,527,363...133,539,123
Ensembl chr10:133,520,406...133,561,220
JBrowse link
G HNF1A HNF1 homeobox A susceptibility IAGP DNA:loss of heterozygosity, mutations:multiple
DNA:frameshift mutation, non-sense mutation:cds:R229X, G55fsX57 (human)
RGD PMID:12355088, PMID:14598263 RGD:14700683, RGD:14700774 NCBI chr12:120,977,683...121,002,512
Ensembl chr12:120,978,543...121,002,512
JBrowse link
G HP haptoglobin ISO RGD PMID:10569800 RGD:1626391 NCBI chr16:72,054,505...72,061,055
Ensembl chr16:72,054,505...72,061,055
JBrowse link
G HRAS HRas proto-oncogene, GTPase EXP CTD Direct Evidence: marker/mechanism CTD PMID:8200073 NCBI chr11:532,242...535,576
Ensembl chr11:532,242...537,287
JBrowse link
G KRAS KRAS proto-oncogene, GTPase induced ISO aflatoxin B1 induced:DNA:transversion,transition mutations:cds: RGD PMID:8446626 RGD:11568697 NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936
JBrowse link
G MKI67 marker of proliferation Ki-67 EXP CTD Direct Evidence: marker/mechanism CTD PMID:31939706 NCBI chr10:128,096,659...128,126,423
Ensembl chr10:128,096,659...128,126,423
JBrowse link
G NR1H4 nuclear receptor subfamily 1 group H member 4 ISO RGD PMID:17183066 RGD:14696794 NCBI chr12:100,473,866...100,564,414
Ensembl chr12:100,473,708...100,564,414
JBrowse link
G NR1I3 nuclear receptor subfamily 1 group I member 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25656644 NCBI chr 1:161,229,666...161,238,623
Ensembl chr 1:161,229,666...161,238,302
Ensembl chr 1:161,229,666...161,238,302
JBrowse link
G PTEN phosphatase and tensin homolog ISO
EXP
CTD Direct Evidence: marker/mechanism CTD PMID:27022031, PMID:15199412 RGD:1302555 NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,863,625...87,971,930
JBrowse link
G PTPN11 protein tyrosine phosphatase non-receptor type 11 ISS MouseDO NCBI chr12:112,418,915...112,509,918
Ensembl chr12:112,418,351...112,509,913
Ensembl chr12:112,418,351...112,509,913
JBrowse link
G TMEM70 transmembrane protein 70 EXP CTD Direct Evidence: marker/mechanism CTD PMID:27914986 NCBI chr 8:73,976,195...73,982,783
Ensembl chr 8:73,972,437...73,982,783
JBrowse link
G UBE2E2 ubiquitin conjugating enzyme E2 E2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:27914986 NCBI chr 3:23,203,007...23,591,925
Ensembl chr 3:23,203,020...23,591,794
JBrowse link
insulinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADM adrenomedullin IEP protein:increased expression:pancreas, plasma RGD PMID:11331218 RGD:2325319 NCBI chr11:10,305,073...10,307,397
Ensembl chr11:10,305,073...10,307,397
JBrowse link
G BTC betacellulin IEP protein:increased expression:pancreas RGD PMID:10724350 RGD:2326087 NCBI chr 4:74,744,759...74,794,718
Ensembl chr 4:74,744,759...74,794,523
JBrowse link
G CD40 CD40 molecule ISO RGD PMID:17982058 RGD:5491180 NCBI chr20:46,118,242...46,129,858
Ensembl chr20:46,118,278...46,129,863
JBrowse link
G CXCL12 C-X-C motif chemokine ligand 12 IEP protein:increased expression:pancreas RGD PMID:19013212 RGD:2317608 NCBI chr10:44,292,088...44,385,097
Ensembl chr10:44,370,165...44,386,493
JBrowse link
G INS insulin IDA protein:altered expression:blood
protein:altered localization:pancreas
RGD PMID:8175958, PMID:2565624 RGD:2317266, RGD:2317268 NCBI chr11:2,159,779...2,161,209
Ensembl chr11:2,159,779...2,161,341
Ensembl chr11:2,159,779...2,161,341
JBrowse link
G MEN1 menin 1 disease_progression ISO
IAGP
EXP
DNA:deletion:exon
ClinVar Annotator: match by term: Insulinoma
CTD Direct Evidence: marker/mechanism
DNA:deletions:exons
ClinVar
CTD
PMID:17961653, PMID:25741868, PMID:30311386, PMID:12941803, PMID:20138042, PMID:19208834 RGD:2317292, RGD:2317288, RGD:2317310 NCBI chr11:64,803,514...64,811,294
Ensembl chr11:64,803,510...64,811,294
JBrowse link
G NCAM1 neural cell adhesion molecule 1 IEP protein:increased expression:pancreas RGD PMID:8972754 RGD:2326080 NCBI chr11:112,961,420...113,278,436
Ensembl chr11:112,961,247...113,278,436
JBrowse link
G RPS15 ribosomal protein S15 ISO RGD PMID:3019805 RGD:61740 NCBI chr19:1,438,396...1,440,495
Ensembl chr19:1,438,358...1,440,495
Ensembl chr19:1,438,358...1,440,495
JBrowse link
G SLC2A2 solute carrier family 2 member 2 IEP mRNA:decreased expression:pancreatic islet
protein:increased expression:pancreatic B cell
RGD PMID:8421107, PMID:12114701 RGD:2324977, RGD:2324976 NCBI chr 3:170,996,341...171,026,721
Ensembl chr 3:170,996,347...171,026,743
JBrowse link
G TGFA transforming growth factor alpha IEP protein:increased expression:pancreas RGD PMID:8712689 RGD:2317472 NCBI chr 2:70,447,284...70,553,826
Ensembl chr 2:70,447,284...70,554,193
JBrowse link
G TGFB1 transforming growth factor beta 1 IEP mRNA, protein:decreased expression:pancreatic islet RGD PMID:18058603 RGD:2325017 NCBI chr19:41,330,323...41,353,922
Ensembl chr19:41,301,587...41,353,922
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 IAGP ClinVar Annotator: match by term: Intrahepatic Cholangiocarcinoma ClinVar PMID:24728327, PMID:25479140, PMID:25741868, PMID:26530882, PMID:28492532 NCBI chr 5:112,707,498...112,846,239
Ensembl chr 5:112,707,498...112,846,239
JBrowse link
G ARID1A AT-rich interaction domain 1A disease_progression IEP RGD PMID:30849962 RGD:14974231 NCBI chr 1:26,696,015...26,782,104
Ensembl chr 1:26,693,236...26,782,104
JBrowse link
G BECN1 beclin 1 disease_progression IEP RGD PMID:30849962 RGD:14974231 NCBI chr17:42,810,132...42,824,282
Ensembl chr17:42,810,134...42,833,350
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 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929
Ensembl chr 7:140,719,327...140,924,929
JBrowse link
G FAS Fas cell surface death receptor disease_progression IEP RGD PMID:11003620 RGD:14700701 NCBI chr10:88,968,429...89,017,059
Ensembl chr10:88,990,531...89,017,059
JBrowse link
G FASLG Fas ligand severity IEP RGD PMID:11003620 RGD:14700701 NCBI chr 1:172,659,103...172,666,876
Ensembl chr 1:172,659,103...172,666,876
JBrowse link
G FOXP3 forkhead box P3 ISO DNA:hypomethylation:liver RGD PMID:24291052 RGD:38599002 NCBI chr  X:49,250,436...49,264,932
Ensembl chr  X:49,250,438...49,270,477
Ensembl chr  X:49,250,438...49,270,477
JBrowse link
G IDH1 isocitrate dehydrogenase (NADP(+)) 1 no_association IAGP DNA:misssense mutations:cds:p.Arg132Cys,Arg132Leu (human) RGD PMID:26245674 RGD:14974229 NCBI chr 2:208,236,227...208,255,071
Ensembl chr 2:208,236,229...208,266,074
Ensembl chr 2:208,236,229...208,266,074
JBrowse link
G IDH2 isocitrate dehydrogenase (NADP(+)) 2 disease_progression IAGP DNA:mutations: : RGD PMID:22824796 RGD:14985256 NCBI chr15:90,083,045...90,102,468
Ensembl chr15:90,083,045...90,102,504
Ensembl chr15:90,083,045...90,102,504
JBrowse link
G KRAS KRAS proto-oncogene, GTPase disease_progression ISS
IAGP
DNA:mutations:: MouseDO PMID:24139215 RGD:14398746 NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936
JBrowse link
G MIR152 microRNA 152 IEP miRNA:decreased expression:intrahepatic bile duct RGD PMID:28921383 RGD:19165148 NCBI chr17:48,037,161...48,037,247
Ensembl chr17:48,037,161...48,037,247
JBrowse link
G MIR200B microRNA 200b IEP RNA:increased expression:liver RGD PMID:27685844 RGD:14928335 NCBI chr 1:1,167,104...1,167,198
Ensembl chr 1:1,167,104...1,167,198
JBrowse link
G MIR21 microRNA 21 IEP RNA:increased expression:liver,plasma RGD PMID:27685844 RGD:14928335 NCBI chr17:59,841,266...59,841,337
Ensembl chr17:59,841,266...59,841,337
JBrowse link
G MIR221 microRNA 221 severity IEP RGD PMID:27685844 RGD:14928335 NCBI chr  X:45,746,157...45,746,266
Ensembl chr  X:45,746,157...45,746,266
JBrowse link
G SMAD4 SMAD family member 4 disease_progression IEP mRNA,protein:decreased expression:intrahepatic bile duct RGD PMID:16917866, PMID:23981608 RGD:18936999, RGD:21066336 NCBI chr18:51,030,213...51,085,042
Ensembl chr18:51,028,394...51,085,045
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 IAGP ClinVar Annotator: match by term: Klatskin tumor ClinVar PMID:25741868 NCBI chr 5:112,707,498...112,846,239
Ensembl chr 5:112,707,498...112,846,239
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 ISO protein:increased activity:liver (rat) RGD PMID:8264573 RGD:2313432 NCBI chr 9:101,420,560...101,435,774
Ensembl chr 9:101,420,560...101,449,664
JBrowse link
G APOBEC1 apolipoprotein B mRNA editing enzyme catalytic subunit 1 ISO RGD PMID:9633945 RGD:10755510 NCBI chr12:7,649,400...7,670,599
Ensembl chr12:7,649,400...7,665,908
JBrowse link
G CBX7 chromobox 7 ISO RGD PMID:22214847 RGD:9587356 NCBI chr22:39,130,772...39,152,680
Ensembl chr22:39,120,167...39,152,680
JBrowse link
G CDKN1A cyclin dependent kinase inhibitor 1A ISO protein:increased expression:liver RGD PMID:23890812 RGD:13792775 NCBI chr 6:36,676,463...36,687,332
Ensembl chr 6:36,676,460...36,687,339
Ensembl chr 6:36,676,460...36,687,339
JBrowse link
G COL1A1 collagen type I alpha 1 chain onset ISO mRNA:increased expression:liver (rat) RGD PMID:21295105 RGD:5130894 NCBI chr17:50,184,096...50,201,649
Ensembl chr17:50,183,289...50,201,632
Ensembl chr17:50,183,289...50,201,632
JBrowse link
G EIF4G2 eukaryotic translation initiation factor 4 gamma 2 ISO RGD PMID:9633945 RGD:10755510 NCBI chr11:10,797,046...10,808,926
Ensembl chr11:10,797,050...10,808,940
JBrowse link
G H2AX H2A.X variant histone treatment ISO RGD PMID:23474136 RGD:8693737 NCBI chr11:119,093,874...119,095,465
Ensembl chr11:119,093,854...119,095,467
JBrowse link
G HSPA4 heat shock protein family A (Hsp70) member 4 ISO protein:increased expression:liver (rat) RGD PMID:22213170 RGD:5686872 NCBI chr 5:133,052,013...133,106,449
Ensembl chr 5:133,052,013...133,106,449
JBrowse link
G IL10 interleukin 10 treatment ISO RGD PMID:25168696 RGD:11049493 NCBI chr 1:206,767,602...206,772,494
Ensembl chr 1:206,767,602...206,774,541
JBrowse link
G KMT5C lysine methyltransferase 5C disease_progression ISO protein:decreased expression:liver RGD PMID:16497704 RGD:9586726 NCBI chr19:55,339,876...55,348,121
Ensembl chr19:55,339,853...55,348,121
JBrowse link
G MAP2K3 mitogen-activated protein kinase kinase 3 IEP RGD PMID:24233520 RGD:7495808 NCBI chr17:21,284,679...21,315,240
Ensembl chr17:21,284,672...21,315,232
JBrowse link
G MET MET proto-oncogene, receptor tyrosine kinase onset ISO mRNA, protein:increased expression:neoplastic liver (rat) RGD PMID:11956651 RGD:2317546 NCBI chr 7:116,672,196...116,798,386
Ensembl chr 7:116,672,196...116,798,386
JBrowse link
G MTHFR methylenetetrahydrofolate reductase onset ISO mRNA:decreased expression:liver (rat) RGD PMID:22213190 RGD:6893663 NCBI chr 1:11,785,723...11,806,103
Ensembl chr 1:11,785,723...11,806,455
Ensembl chr 1:11,785,723...11,806,455
JBrowse link
G NQO1 NAD(P)H quinone dehydrogenase 1 ISO RGD PMID:24418717 RGD:11035219 NCBI chr16:69,709,401...69,726,560
Ensembl chr16:69,706,996...69,726,668
JBrowse link
G TTPA alpha tocopherol transfer protein ISO mRNA:decreased expression:liver RGD PMID:9178827 RGD:1600436 NCBI chr 8:63,059,488...63,086,523
Ensembl chr 8:63,048,553...63,086,053
JBrowse link
G TUT4 terminal uridylyl transferase 4 IMP human cells in a mouse model RGD PMID:24056962 RGD:11530012 NCBI chr 1:52,423,275...52,553,463
Ensembl chr 1:52,408,282...52,553,487
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 IAGP DNA:mutations:cds: RGD PMID:28570009 RGD:14398747 NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936
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 IAGP
IEA
OMIM:181030 MouseDO PMID:10029085 RGD:1599086 NCBI chr 8:56,160,909...56,211,327
Ensembl chr 8:56,160,909...56,211,324
JBrowse link
Pleomorphic Salivary Gland Adenoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PLAG1 PLAG1 zinc finger IAGP OMIM NCBI chr 8:56,160,909...56,211,327
Ensembl chr 8:56,160,909...56,211,324
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 EXP CTD Direct Evidence: marker/mechanism CTD PMID:8071957, PMID:11766074 NCBI chr 5:112,707,498...112,846,239
Ensembl chr 5:112,707,498...112,846,239
JBrowse link
G CDKN1B cyclin dependent kinase inhibitor 1B EXP CTD Direct Evidence: marker/mechanism CTD PMID:15525823 NCBI chr12:12,717,368...12,722,369
Ensembl chr12:12,715,058...12,722,369
JBrowse link
G EGFR epidermal growth factor receptor EXP CTD Direct Evidence: marker/mechanism CTD PMID:16839708 NCBI chr 7:55,019,017...55,211,628
Ensembl chr 7:55,019,017...55,211,628
JBrowse link
G FOS Fos proto-oncogene, AP-1 transcription factor subunit IEP RGD PMID:21975339 RGD:13210759 NCBI chr14:75,278,828...75,282,230
Ensembl chr14:75,278,826...75,282,230
JBrowse link
G MAPK8 mitogen-activated protein kinase 8 IAGP DNA:SNP: :rs10508901 (human)
DNA:SNP: :rs10857561 (human)
RGD PMID:22199996, PMID:23027623 RGD:13217410, RGD:13217411 NCBI chr10:48,306,673...48,439,360
Ensembl chr10:48,306,639...48,439,360
JBrowse link
G MCC MCC regulator of WNT signaling pathway EXP CTD Direct Evidence: marker/mechanism CTD PMID:8071957 NCBI chr 5:113,022,101...113,488,453
Ensembl chr 5:113,022,099...113,488,823
JBrowse link
G MTHFR methylenetetrahydrofolate reductase severity IAGP DNA:transition:cds:g.677C>T (human) RGD PMID:21865946 RGD:6893664 NCBI chr 1:11,785,723...11,806,103
Ensembl chr 1:11,785,723...11,806,455
Ensembl chr 1:11,785,723...11,806,455
JBrowse link
G MUC2 mucin 2, oligomeric mucus/gel-forming EXP CTD Direct Evidence: marker/mechanism CTD PMID:12468628 NCBI chr11:1,074,875...1,110,508
Ensembl chr11:1,074,875...1,110,511
JBrowse link
G NRAS NRAS proto-oncogene, GTPase EXP CTD Direct Evidence: marker/mechanism CTD PMID:3102434 NCBI chr 1:114,704,469...114,716,771
Ensembl chr 1:114,704,469...114,716,771
JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha susceptibility IAGP DNA:SNP:intron: (rs7651265) (human) RGD PMID:20622004 RGD:5685669 NCBI chr 3:179,148,114...179,240,093
Ensembl chr 3:179,148,114...179,240,093
JBrowse link
G PIK3CB phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta disease_progression IEP RGD PMID:25473181 RGD:13432031 NCBI chr 3:138,652,698...138,834,928
Ensembl chr 3:138,652,698...138,834,928
Ensembl chr 3:138,652,698...138,834,928
JBrowse link
G PMEPA1 prostate transmembrane protein, androgen induced 1 IEP mRNA:increased expression:rectum RGD PMID:11568975 RGD:2315108 NCBI chr20:57,648,396...57,711,472
Ensembl chr20:57,648,392...57,711,536
JBrowse link
G TYMS thymidylate synthetase EXP CTD Direct Evidence: marker/mechanism CTD PMID:16931962 NCBI chr18:657,653...673,578
Ensembl chr18:657,653...673,578
JBrowse link
G WRAP53 WD repeat containing antisense to TP53 treatment IEP RGD PMID:22805008 RGD:21081677 NCBI chr17:7,686,071...7,703,502
Ensembl chr17:7,686,071...7,703,502
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18864
    disease of cellular proliferation 6853
      Neoplasms by Site 6120
        organ system benign neoplasm 457
          gastrointestinal system benign neoplasm 151
            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 + 121
            intestinal benign neoplasm + 29
            lipoadenoma 0
            pancreatic cystadenoma + 12
            pancreatic intraductal papillary-mucinous adenoma 0
            pleomorphic adenoma + 1
            squamous papillomatosis 0
Path 2
Term Annotations click to browse term
  disease 18864
    disease of anatomical entity 17349
      gastrointestinal system disease 4605
        Digestive System Neoplasms 1958
          Gastrointestinal Neoplasms 1814
            gastrointestinal system benign neoplasm 151
              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 + 121
              intestinal benign neoplasm + 29
              lipoadenoma 0
              pancreatic cystadenoma + 12
              pancreatic intraductal papillary-mucinous adenoma 0
              pleomorphic adenoma + 1
              squamous papillomatosis 0
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.