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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 ISO CTD Direct Evidence: therapeutic CTD PMID:12170190, PMID:12397731 NCBI chr 5:106,865,192...106,865,746
Ensembl chr 5:106,865,192...106,865,746
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 ISO mRNA:increased expression:appendix, mucosa (human) RGD PMID:16794389 RGD:9590083 NCBI chr 7:54,213,305...54,237,880
Ensembl chr 7:54,213,319...54,236,625
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 4:67,389,331...67,520,549
Ensembl chr 4:67,396,192...67,520,356
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 6:33,176,826...33,216,381
Ensembl chr 6:33,176,778...33,224,997
JBrowse link
G Apoe apolipoprotein E susceptibility ISO DNA:SNP:intron:rs440446 (human) RGD PMID:18296645 RGD:2317550 NCBI chr 1:80,612,894...80,616,820
Ensembl chr 1:80,612,895...80,617,057
JBrowse link
G Tjp1 tight junction protein 1 ISO protein:decreased expression:bile duct RGD PMID:19184677 RGD:2325030 NCBI chr 1:126,146,489...126,515,359
Ensembl chr 1:126,146,489...126,227,469
JBrowse link
bile duct carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Msln mesothelin ISO protein:increased expression:bile duct RGD PMID:17276942 RGD:2326059 NCBI chr10:15,119,700...15,129,129
Ensembl chr10:15,119,663...15,125,408
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 5:22,577,680...22,799,333
Ensembl chr 5:22,577,675...22,799,349
JBrowse link
G Egfr epidermal growth factor receptor ISO CTD Direct Evidence: therapeutic CTD PMID:17341899 NCBI chr14:99,919,485...100,104,136
Ensembl chr14:99,919,485...100,098,796
JBrowse link
G Fscn1 fascin actin-bundling protein 1 disease_progression ISO protein:increased expression:bile duct RGD PMID:17419223 RGD:2317786 NCBI chr12:13,655,459...13,668,595
Ensembl chr12:13,656,554...13,668,515
JBrowse link
G Il6 interleukin 6 disease_progression ISO protein:increased expression:serum RGD PMID:17617204 RGD:2317166 NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
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 4:44,747,467...44,854,628
Ensembl chr 4:44,774,741...44,852,665
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 1:209,237,255...209,464,189
Ensembl chr 1:209,237,233...209,464,190
JBrowse link
G Mki67 marker of proliferation Ki-67 disease_progression ISO RGD PMID:9869516 RGD:2317706 NCBI chr 1:207,993,895...208,020,454
Ensembl chr 1:207,993,895...208,020,454
JBrowse link
G Muc16 mucin 16, cell surface associated ISO protein:increased expression:serum,bile RGD PMID:1657243 RGD:2325134 NCBI chr 8:18,438,838...18,639,777 JBrowse link
G Muc4 mucin 4, cell surface associated disease_progression ISO protein:increased expression:bile duct RGD PMID:16857800 RGD:2324929 NCBI chr11:71,242,973...71,285,217
Ensembl chr11:71,243,334...71,284,939
JBrowse link
G Ncam1 neural cell adhesion molecule 1 disease_progression ISO RGD PMID:8501910, PMID:9851639 RGD:2326077, RGD:2326076 NCBI chr 8:53,836,797...54,134,881
Ensembl chr 8:53,839,098...53,901,358
JBrowse link
G Runx3 RUNX family transcription factor 3 ISO DNA:hypermethylation:promoter RGD PMID:15471559 RGD:2324957 NCBI chr 5:153,507,093...153,531,137
Ensembl chr 5:153,507,093...153,531,137
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 chr14:19,176,275...19,191,793
Ensembl chr14:19,176,277...19,191,863
JBrowse link
G Ctps1 CTP synthase 1 ISO mRNA:increased expression:biliary tract neoplasm (human) RGD PMID:12819026 RGD:2317903 NCBI chr 5:139,475,934...139,505,065
Ensembl chr 5:139,475,934...139,505,065
JBrowse link
G Elf3 E74 like ETS transcription factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26258846 NCBI chr13:52,083,873...52,088,798
Ensembl chr13:52,083,859...52,088,780
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 chr13:79,696,811...79,717,581
Ensembl chr13:79,698,445...79,705,705
JBrowse link
G Hgf hepatocyte growth factor ISO mRNA:increased expression: : RGD PMID:12819026 RGD:2317903 NCBI chr 4:15,435,460...15,505,377
Ensembl chr 4:15,433,295...15,505,362
JBrowse link
G Il4 interleukin 4 ISO RGD PMID:18798553 RGD:2317263 NCBI chr10:38,963,979...38,969,531
Ensembl chr10:38,963,979...38,969,531
JBrowse link
G Il6 interleukin 6 ISO RGD PMID:18159174 RGD:2317165 NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
JBrowse link
G Mdm2 MDM2 proto-oncogene ISO protein:increased expression:biliary epithelium (human) RGD PMID:16505435 RGD:2317415 NCBI chr 7:60,719,060...60,743,618
Ensembl chr 7:60,719,066...60,743,328
JBrowse link
G Mtap methylthioadenosine phosphorylase ISO RGD PMID:16373701 RGD:2317953 NCBI chr 5:107,711,077...107,777,530
Ensembl chr 5:107,711,077...107,777,530
JBrowse link
G Muc1 mucin 1, cell surface associated ISO RGD PMID:19129927 RGD:2317987 NCBI chr 2:188,543,137...188,547,874
Ensembl chr 2:188,543,137...188,547,874
JBrowse link
G Muc4 mucin 4, cell surface associated ISO protein:increased expression:bile,biliary tract RGD PMID:18475301 RGD:2324916 NCBI chr11:71,242,973...71,285,217
Ensembl chr11:71,243,334...71,284,939
JBrowse link
G Muc5ac mucin 5AC, oligomeric mucus/gel-forming disease_progression ISO protein:increased expression:serum RGD PMID:18475301 RGD:2324916 NCBI chr 1:214,725,482...214,756,653 JBrowse link
G Prkacb protein kinase cAMP-activated catalytic subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:26258846 NCBI chr 2:252,602,197...252,691,886
Ensembl chr 2:252,605,307...252,691,886
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 1:263,554,426...263,612,556
Ensembl chr 1:263,554,453...263,613,252
JBrowse link
G Adrb2 adrenoceptor beta 2 ISO protein:decreased expression:liver RGD PMID:16292515 RGD:2325640 NCBI chr18:57,513,792...57,515,834
Ensembl chr18:57,513,793...57,515,834
JBrowse link
G Alb albumin disease_progression ISO RGD PMID:10776430, PMID:20431764, PMID:17545000 RGD:2325682, RGD:2325679, RGD:2325680 NCBI chr14:19,176,275...19,191,793
Ensembl chr14:19,176,277...19,191,863
JBrowse link
G Alox5 arachidonate 5-lipoxygenase ISO protein:increased expression:bile duct RGD PMID:18507031 RGD:2317521 NCBI chr 4:148,398,004...148,446,308
Ensembl chr 4:148,398,892...148,446,303
JBrowse link
G Anxa2 annexin A2 disease_progression ISO RGD PMID:20493868 RGD:2325728 NCBI chr 8:75,687,134...75,723,589
Ensembl chr 8:75,687,100...75,723,594
JBrowse link
G Anxa8 annexin A8 ISO RGD PMID:19376120 RGD:2325733 NCBI chr16:10,417,174...10,432,388
Ensembl chr16:10,417,185...10,432,393
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 chr18:27,011,710...27,106,323
Ensembl chr18:27,047,382...27,105,531
JBrowse link
G Apoa1 apolipoprotein A1 ISO protein:decreased expression:serum RGD PMID:19486127 RGD:2325756 NCBI chr 8:50,525,091...50,526,875
Ensembl chr 8:50,525,091...50,526,875
JBrowse link
G Arid1a AT-rich interaction domain 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:24185509 NCBI chr 5:151,904,687...151,977,973
Ensembl chr 5:151,904,684...151,977,636
JBrowse link
G Asph aspartate-beta-hydroxylase ISO RGD PMID:21898484 RGD:6902945 NCBI chr 5:22,577,680...22,799,333
Ensembl chr 5:22,577,675...22,799,349
JBrowse link
G Bap1 Brca1 associated protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24185509, PMID:25231345 NCBI chr16:7,336,685...7,345,511
Ensembl chr16:7,336,685...7,345,511
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 4:67,389,331...67,520,549
Ensembl chr 4:67,396,192...67,520,356
JBrowse link
G Cdkn2a cyclin-dependent kinase inhibitor 2A onset ISO protein:decreased expression:liver RGD PMID:15619210 RGD:2317417 NCBI chr 5:107,823,323...107,832,405
Ensembl chr 5:107,823,330...107,841,175
JBrowse link
G Cycs cytochrome c, somatic ISO RGD PMID:19788692 RGD:2317615 NCBI chr 4:80,331,226...80,333,326
Ensembl chr 4:80,331,227...80,333,326
JBrowse link
G Egfr epidermal growth factor receptor ISO CTD Direct Evidence: therapeutic CTD PMID:17341899 NCBI chr14:99,919,485...100,104,136
Ensembl chr14:99,919,485...100,098,796
JBrowse link
G Epo erythropoietin IEP mRNA, protein:increased expression:liver RGD PMID:23052842 RGD:10400912 NCBI chr12:22,274,828...22,278,268
Ensembl chr12:22,274,828...22,278,266
JBrowse link
G Epor erythropoietin receptor IEP mRNA, protein:increased expression:liver RGD PMID:23052842 RGD:10400912 NCBI chr 8:22,969,737...22,974,468
Ensembl chr 8:22,969,745...22,974,321
JBrowse link
G Erbb2 erb-b2 receptor tyrosine kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16818635 NCBI chr10:86,367,596...86,391,728
Ensembl chr10:86,367,596...86,391,728
JBrowse link
G Faslg Fas ligand ISO RGD PMID:11029528 RGD:2317746 NCBI chr13:79,696,811...79,717,581
Ensembl chr13:79,698,445...79,705,705
JBrowse link
G Fgf2 fibroblast growth factor 2 ISO protein:increased expression:bile RGD PMID:11478488 RGD:2317765 NCBI chr 2:124,081,072...124,134,133
Ensembl chr 2:124,081,072...124,134,681
JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26258846 NCBI chr 1:200,590,951...200,696,946
Ensembl chr 1:200,590,953...200,696,928
JBrowse link
G Fscn1 fascin actin-bundling protein 1 disease_progression ISO protein:increased expression:bile ducts RGD PMID:19721413 RGD:2317780 NCBI chr12:13,655,459...13,668,595
Ensembl chr12:13,656,554...13,668,515
JBrowse link
G Gnas GNAS complex locus disease_progression ISO DNA:polymorphism:393T>C (human)
CTD Direct Evidence: marker/mechanism
CTD PMID:22561520, PMID:17356712 RGD:1601377 NCBI chr 3:172,374,957...172,434,988
Ensembl chr 3:172,374,957...172,428,483
Ensembl chr 3:172,374,957...172,428,483
JBrowse link
G Gstm1 glutathione S-transferase mu 1 ISO RGD PMID:24049014 RGD:14700980 NCBI chr 2:210,803,869...210,809,461
Ensembl chr 2:210,803,869...210,809,306
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 1:219,291,679...219,294,147
Ensembl chr 1:219,291,679...219,294,147
JBrowse link
G Hdac6 histone deacetylase 6 ISO protein:increased expression:liver: RGD PMID:23370327 RGD:9681560 NCBI chr  X:15,295,372...15,316,673
Ensembl chr  X:15,295,473...15,316,671
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 4:15,435,460...15,505,377
Ensembl chr 4:15,433,295...15,505,362
JBrowse link
G Idh1 isocitrate dehydrogenase (NADP(+)) 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24185509 NCBI chr 9:71,882,108...71,911,645
Ensembl chr 9:71,882,105...71,900,044
JBrowse link
G Idh2 isocitrate dehydrogenase (NADP(+)) 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24185509 NCBI chr 1:141,874,354...141,893,674
Ensembl chr 1:141,866,283...141,893,705
JBrowse link
G Il4r interleukin 4 receptor ISO mRNA:increased expression:bile duct RGD PMID:18798553 RGD:2317263 NCBI chr 1:196,942,343...196,967,221
Ensembl chr 1:196,942,364...196,967,220
JBrowse link
G Il6 interleukin 6 ISO protein:increased expression:serum
CTD Direct Evidence: marker/mechanism
CTD PMID:17621267, PMID:15011822, PMID:28925763 RGD:2317167, RGD:14975292 NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
JBrowse link
G Kmt2c lysine methyltransferase 2C ISO CTD Direct Evidence: marker/mechanism CTD PMID:22561520 NCBI chr 4:82,506...109,986
NCBI chr 4:6,083,650...6,294,413
Ensembl chr 4:6,083,736...6,292,516
JBrowse link
G Kras KRAS proto-oncogene, GTPase ISO CTD Direct Evidence: marker/mechanism CTD PMID:8968066, PMID:22561520 NCBI chr 4:179,482,562...179,515,483
Ensembl chr 4:179,486,105...179,515,558
JBrowse link
G Krt7 keratin 7 ISO RGD PMID:18393293 RGD:2317308 NCBI chr 7:143,059,731...143,075,907
Ensembl chr 7:143,059,764...143,075,907
JBrowse link
G Mdm2 MDM2 proto-oncogene disease_progression ISO protein:increased expression:intrahepatic bile duct (human) RGD PMID:15619210 RGD:2317417 NCBI chr 7:60,719,060...60,743,618
Ensembl chr 7:60,719,066...60,743,328
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 4:44,747,467...44,854,628
Ensembl chr 4:44,774,741...44,852,665
JBrowse link
G Mgmt O-6-methylguanine-DNA methyltransferase ISO DNA:hypermethylation:promoter (human) RGD PMID:17550320 RGD:2317632 NCBI chr 1:209,237,255...209,464,189
Ensembl chr 1:209,237,233...209,464,190
JBrowse link
G Mir155 microRNA 155 ISO miRNA:increased expression:serum RGD PMID:30653586 RGD:21081530 NCBI chr11:24,176,603...24,176,667
Ensembl chr11:24,176,603...24,176,667
JBrowse link
G Mki67 marker of proliferation Ki-67 disease_progression ISO RGD PMID:12903495 RGD:2317705 NCBI chr 1:207,993,895...208,020,454
Ensembl chr 1:207,993,895...208,020,454
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 chr19:15,542,771...15,570,589
Ensembl chr19:15,542,765...15,570,611
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 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
JBrowse link
G Msln mesothelin ISO CTD Direct Evidence: marker/mechanism CTD PMID:14576474 NCBI chr10:15,119,700...15,129,129
Ensembl chr10:15,119,663...15,125,408
JBrowse link
G Mthfr methylenetetrahydrofolate reductase susceptibility ISO DNA:polymorphism (human) RGD PMID:17201138 RGD:2317119 NCBI chr 5:164,844,642...164,864,360
Ensembl chr 5:164,845,925...164,860,910
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 2:188,543,137...188,547,874
Ensembl chr 2:188,543,137...188,547,874
JBrowse link
G Muc16 mucin 16, cell surface associated ISO associated with Opisthorchiasis;protein:increased expression:serum RGD PMID:1653472 RGD:2325142 NCBI chr 8:18,438,838...18,639,777 JBrowse link
G Muc2 mucin 2, oligomeric mucus/gel-forming ISO mRNA:decreased expression:bile duct RGD PMID:11680592 RGD:2324948 NCBI chr 1:214,663,929...214,693,197 JBrowse link
G Muc3 mucin 3, intestinal ISO mRNA:decreased expression:bile duct RGD PMID:11680592 RGD:2324948 NCBI chr12:22,535,663...22,584,775 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 chr11:71,242,973...71,285,217
Ensembl chr11:71,243,334...71,284,939
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 1:214,725,482...214,756,653 JBrowse link
G Muc5b mucin 5B, oligomeric mucus/gel-forming ISO mRNA:decreased expression:bile duct RGD PMID:11680592 RGD:2324948 NCBI chr 1:214,778,459...214,811,237
Ensembl chr 1:214,778,496...214,810,720
JBrowse link
G Muc6 mucin 6, oligomeric mucus/gel-forming ISO protein:increased expression: : RGD PMID:10209489 RGD:2325167 NCBI chr 1:214,608,453...214,630,524
Ensembl chr 1:214,608,704...214,629,938
JBrowse link
G Nat2 N-acetyltransferase 2 ISO DNA:polymorphisms (human) RGD PMID:15901993 RGD:2317172 NCBI chr16:23,960,709...23,991,570
Ensembl chr16:23,961,067...23,991,570
JBrowse link
G Ncam1 neural cell adhesion molecule 1 ISO associated with hepatitis RGD PMID:12031086 RGD:2326079 NCBI chr 8:53,836,797...54,134,881
Ensembl chr 8:53,839,098...53,901,358
JBrowse link
G Nos2 nitric oxide synthase 2 ISO protein:increased expression:bile duct
CTD Direct Evidence: marker/mechanism
CTD PMID:16818635, PMID:16094703 RGD:2325280 NCBI chr10:66,188,290...66,221,621
Ensembl chr10:66,189,786...66,313,190
JBrowse link
G Notch1 notch receptor 1 ISO protein:increased expression:cholangiocyte RGD PMID:15887117 RGD:2325330 NCBI chr 3:3,905,562...3,951,015
Ensembl chr 3:3,905,453...3,951,025
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 7:30,003,429...30,162,095
Ensembl chr 7:30,003,429...30,162,056
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 4:145,282,828...145,289,367
Ensembl chr 4:145,282,797...145,289,326
JBrowse link
G Pawr pro-apoptotic WT1 regulator ISO mRNA,protein:decreased expression:cholangiocyte: RGD PMID:20724592 RGD:9835357 NCBI chr 7:51,273,764...51,353,700
Ensembl chr 7:51,273,771...51,353,068
JBrowse link
G Pbrm1 polybromo 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24185509 NCBI chr16:7,103,714...7,202,899
Ensembl chr16:7,103,998...7,200,362
JBrowse link
G Peg3 paternally expressed 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22561520 NCBI chr 1:70,210,810...70,237,450
Ensembl chr 1:70,222,964...70,237,443
JBrowse link
G Prkaca protein kinase cAMP-activated catalytic subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:26258846 NCBI chr19:25,095,089...25,118,869
Ensembl chr19:25,095,089...25,118,860
JBrowse link
G Prkacb protein kinase cAMP-activated catalytic subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:26258846 NCBI chr 2:252,602,197...252,691,886
Ensembl chr 2:252,605,307...252,691,886
JBrowse link
G Prss2 protease, serine, 2 ISO protein:increased expression:serum RGD PMID:8621252 RGD:2324908 NCBI chr 4:70,689,737...70,694,816
Ensembl chr 4:70,689,737...70,694,761
JBrowse link
G Pten phosphatase and tensin homolog ISO CTD Direct Evidence: marker/mechanism CTD PMID:27022031, PMID:23376645 RGD:12802341 NCBI chr 1:251,421,814...251,487,634
Ensembl chr 1:251,421,596...251,487,832
JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO protein:increased expression:bile duct
CTD Direct Evidence: marker/mechanism
CTD PMID:16818635, PMID:19621664 RGD:2317180 NCBI chr13:67,351,230...67,356,920
Ensembl chr13:67,351,087...67,359,335
JBrowse link
G Reg1a regenerating family member 1 alpha susceptibility ISO mRNA, protein:increased expression:liver (human) RGD PMID:11343228 RGD:10044031 NCBI chr 4:109,497,962...109,500,626
Ensembl chr 4:109,497,962...109,501,082
JBrowse link
G Rnf43 ring finger protein 43 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22561520 NCBI chr10:74,956,411...75,028,951
Ensembl chr10:74,959,285...75,028,951
JBrowse link
G Robo2 roundabout guidance receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22561520 NCBI chr11:11,062,866...12,618,793
Ensembl chr11:11,062,790...11,585,765
JBrowse link
G Runx3 RUNX family transcription factor 3 ISO protein:decreased expression:bile duct RGD PMID:19827872 RGD:2324955 NCBI chr 5:153,507,093...153,531,137
Ensembl chr 5:153,507,093...153,531,137
JBrowse link
G Slc5a5 solute carrier family 5 member 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17408651 NCBI chr16:20,297,414...20,307,401
Ensembl chr16:20,297,414...20,307,400
JBrowse link
G Smad4 SMAD family member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22561520 NCBI chr18:69,626,682...69,657,373
Ensembl chr18:69,627,757...69,671,199
JBrowse link
G Sox17 SRY-box transcription factor 17 severity IEP RGD PMID:20816680 RGD:4889598 NCBI chr 5:14,890,318...14,895,907
Ensembl chr 5:14,890,408...14,895,907
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 1:82,480,875...82,497,196
Ensembl chr 1:82,480,195...82,497,199
JBrowse link
G Tgfbr2 transforming growth factor, beta receptor 2 IEP mRNA:increased expression:bile duct RGD PMID:12632524 RGD:1299231 NCBI chr 8:124,310,288...124,399,345
Ensembl chr 8:124,312,754...124,399,494
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 3:109,862,120...109,873,466
Ensembl chr 3:109,862,117...109,873,466
JBrowse link
G Tnc tenascin C severity IEP RGD PMID:20816680 RGD:4889598 NCBI chr 5:79,789,686...79,874,555
Ensembl chr 5:79,789,671...79,874,671
JBrowse link
G Tp53 tumor protein p53 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16818635, PMID:22561520 NCBI chr10:56,186,299...56,198,449
Ensembl chr10:56,187,020...56,198,449
JBrowse link
G Ugt1a9 UDP glucuronosyltransferase family 1 member A9 ISO RGD PMID:9230212 RGD:2325161 NCBI chr 9:95,161,157...95,302,822
Ensembl chr 9:95,161,157...95,302,822
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 ISO protein:increased expression:colonic mucosa (human) RGD PMID:10363580 RGD:10401945 NCBI chr 1:219,076,618...219,126,221
Ensembl chr 1:219,077,771...219,126,220
JBrowse link
G F5 coagulation factor V IEP protein:increased expression:serum RGD PMID:25200834 RGD:10449102 NCBI chr13:82,479,997...82,535,540
Ensembl chr13:82,479,998...82,535,534
JBrowse link
G Rac1 Rac family small GTPase 1 ISO RGD PMID:12865273 RGD:13432048 NCBI chr12:13,090,316...13,111,841
Ensembl chr12:13,090,172...13,111,873
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: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 chr18:27,011,710...27,106,323
Ensembl chr18:27,047,382...27,105,531
JBrowse link
G Birc7 baculoviral IAP repeat-containing 7 ISO RGD PMID:21122381 RGD:13217408 NCBI chr 3:176,438,335...176,443,864
Ensembl chr 3:176,439,199...176,443,195
JBrowse link
G Fos Fos proto-oncogene, AP-1 transcription factor subunit ISO RGD PMID:8264230 RGD:13210753 NCBI chr 6:109,300,433...109,303,299
Ensembl chr 6:109,300,433...109,303,299
JBrowse link
G Gstm1 glutathione S-transferase mu 1 susceptibility ISO DNA:deletion:cds (human) RGD PMID:20375710 RGD:7495820 NCBI chr 2:210,803,869...210,809,461
Ensembl chr 2:210,803,869...210,809,306
JBrowse link
G Gstp1 glutathione S-transferase pi 1 ISO DNA:SNP: :p.A114V (human) RGD PMID:20375710 RGD:7495820 NCBI chr 1:219,291,679...219,294,147
Ensembl chr 1:219,291,679...219,294,147
JBrowse link
G Jun Jun proto-oncogene, AP-1 transcription factor subunit ISO RGD PMID:8264230 RGD:13210753 NCBI chr 5:114,011,184...114,014,277
Ensembl chr 5:114,011,189...114,014,277
JBrowse link
G Mapk8 mitogen-activated protein kinase 8 ISO RGD PMID:21122381, PMID:23082052 RGD:13217408, RGD:13217413 NCBI chr16:9,620,854...9,709,342
Ensembl chr16:9,625,177...9,709,347
JBrowse link
G Mir224 microRNA 224 ISO mRNA:increased expression:colorectal mucosa: RGD PMID:25919696 RGD:14398749 NCBI chr  X:152,223,754...152,223,835
Ensembl chr  X:152,223,754...152,223,835
JBrowse link
G Odc1 ornithine decarboxylase 1 ISO ClinVar Annotator: match by term: Colonic adenoma recurrence, reduced risk of ClinVar PMID:12810952 NCBI chr 6:42,852,529...42,859,142
Ensembl chr 6:42,852,683...42,859,927
JBrowse link
G Raf1 Raf-1 proto-oncogene, serine/threonine kinase ISO RGD PMID:21122381 RGD:13217408 NCBI chr 4:147,532,040...147,592,769
Ensembl chr 4:147,532,042...147,592,699
JBrowse link
G Smad4 SMAD family member 4 ISO mRNA:increased expression:mucosa RGD PMID:11480790 RGD:21066339 NCBI chr18:69,626,682...69,657,373
Ensembl chr18:69,627,757...69,671,199
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 4:157,864,905...157,877,634
Ensembl chr 4:157,864,969...157,877,633
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 6:33,176,826...33,216,381
Ensembl chr 6:33,176,778...33,224,997
JBrowse link
G Fscn1 fascin actin-bundling protein 1 ISO mRNA, protein:increased expression: : RGD PMID:15136764 RGD:2317789 NCBI chr12:13,655,459...13,668,595
Ensembl chr12:13,656,554...13,668,515
JBrowse link
G Msln mesothelin ISO protein:increased expression:common bile duct, ampulla of vater RGD PMID:16416732 RGD:2326064 NCBI chr10:15,119,700...15,129,129
Ensembl chr10:15,119,663...15,125,408
JBrowse link
G Mtap methylthioadenosine phosphorylase ISO DNA, protein:deletion, decreased expression:common bile duct: RGD PMID:15662124 RGD:2317954 NCBI chr 5:107,711,077...107,777,530
Ensembl chr 5:107,711,077...107,777,530
JBrowse link
G Muc1 mucin 1, cell surface associated disease_progression ISO protein:increased expression:bile duct RGD PMID:8766528 RGD:2324856 NCBI chr 2:188,543,137...188,547,874
Ensembl chr 2:188,543,137...188,547,874
JBrowse link
G Muc4 mucin 4, cell surface associated ISO protein:increased expression:pancreas RGD PMID:8143972 RGD:2324890 NCBI chr11:71,242,973...71,285,217
Ensembl chr11:71,243,334...71,284,939
JBrowse link
G Muc5ac mucin 5AC, oligomeric mucus/gel-forming ISO protein:altered expression:pancreas RGD PMID:8143972 RGD:2324890 NCBI chr 1:214,725,482...214,756,653 JBrowse link
G Tymp thymidine phosphorylase disease_progression ISO RGD PMID:10760693 RGD:2325158 NCBI chr 7:130,342,481...130,347,845
Ensembl chr 7:130,342,483...130,347,587
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 1:221,704,394...221,710,343
Ensembl chr 1:221,704,493...221,710,331
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
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 chr12:47,407,811...47,433,342
Ensembl chr12:47,407,811...47,433,342
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 chr10:13,962,006...13,996,684
Ensembl chr10:13,961,947...13,996,584
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 PMID:15509519, PMID:15509519 RGD:1358261 NCBI chr 4:154,309,426...154,359,138
Ensembl chr 4:154,309,426...154,359,137
JBrowse link
G Carm1 coactivator-associated arginine methyltransferase 1 IEP mRNA,protein:increased expression:liver: RGD PMID:23912631 RGD:9586718 NCBI chr 8:22,577,723...22,622,555
Ensembl chr 8:22,577,715...22,622,560
JBrowse link
G Cdkn1b cyclin-dependent kinase inhibitor 1B ISO CTD Direct Evidence: marker/mechanism CTD PMID:17620307 NCBI chr 4:168,689,043...168,694,159
Ensembl chr 4:168,689,163...168,693,964
JBrowse link
G Ctnnb1 catenin beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21147764 NCBI chr 8:129,601,511...129,628,378
Ensembl chr 8:129,617,812...129,627,372
JBrowse link
G Cyp2e1 cytochrome P450, family 2, subfamily e, polypeptide 1 treatment IEP RGD PMID:23543859 RGD:14700918 NCBI chr 1:213,511,892...213,522,195
Ensembl chr 1:213,511,874...213,535,542
JBrowse link
G Cyp3a23-3a1 cytochrome P450, family 3, subfamily a, polypeptide 23-polypeptide 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:10959800 NCBI chr12:11,053,888...11,082,742
Ensembl chr12:11,655,402...11,733,136
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 chr12:47,407,811...47,433,342
Ensembl chr12:47,407,811...47,433,342
JBrowse link
G Hp haptoglobin IEP RGD PMID:10569800 RGD:1626391 NCBI chr19:42,096,255...42,100,805
Ensembl chr19:42,097,995...42,100,804
JBrowse link
G Hras HRas proto-oncogene, GTPase ISO CTD Direct Evidence: marker/mechanism CTD PMID:8200073 NCBI chr 1:214,178,404...214,181,841
Ensembl chr 1:214,178,407...214,181,686
JBrowse link
G Kras KRAS proto-oncogene, GTPase induced IAGP aflatoxin B1 induced:DNA:transversion,transition mutations:cds: RGD PMID:8446626 RGD:11568697 NCBI chr 4:179,482,562...179,515,483
Ensembl chr 4:179,486,105...179,515,558
JBrowse link
G Mki67 marker of proliferation Ki-67 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31939706 NCBI chr 1:207,993,895...208,020,454
Ensembl chr 1:207,993,895...208,020,454
JBrowse link
G Nr1h4 nuclear receptor subfamily 1, group H, member 4 ISO RGD PMID:17183066 RGD:14696794 NCBI chr 7:30,003,429...30,162,095
Ensembl chr 7:30,003,429...30,162,056
JBrowse link
G Nr1i3 nuclear receptor subfamily 1, group I, member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25656644 NCBI chr13:89,585,072...89,591,278
Ensembl chr13:89,586,283...89,591,277
JBrowse link
G Pten phosphatase and tensin homolog ISO CTD Direct Evidence: marker/mechanism CTD PMID:27022031, PMID:15199412 RGD:1302555 NCBI chr 1:251,421,814...251,487,634
Ensembl chr 1:251,421,596...251,487,832
JBrowse link
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 ISS MouseDO NCBI chr12:40,895,515...40,955,999
Ensembl chr12:40,895,515...40,955,999
JBrowse link
G Tmem70 transmembrane protein 70 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27914986 NCBI chr 5:2,019,852...2,037,038
Ensembl chr 5:2,019,852...2,037,038
JBrowse link
G Ube2e2 ubiquitin-conjugating enzyme E2E 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27914986 NCBI chr15:7,402,210...7,928,320
Ensembl chr15:7,871,497...7,927,939
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 1:175,443,189...175,447,260
Ensembl chr 1:175,445,088...175,447,259
JBrowse link
G Btc betacellulin ISO protein:increased expression:pancreas RGD PMID:10724350 RGD:2326087 NCBI chr14:18,231,854...18,270,621
Ensembl chr14:18,231,860...18,272,484
JBrowse link
G Cd40 CD40 molecule ISO RGD PMID:17982058 RGD:5491180 NCBI chr 3:161,519,789...161,534,943
Ensembl chr 3:161,519,743...161,534,704
JBrowse link
G Cxcl12 C-X-C motif chemokine ligand 12 ISO protein:increased expression:pancreas RGD PMID:19013212 RGD:2317608 NCBI chr 4:149,261,044...149,273,891
Ensembl chr 4:149,261,044...149,273,891
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 1:215,856,967...215,858,034
Ensembl chr 1:215,856,971...215,858,034
JBrowse link
G Men1 menin 1 disease_progression ISO 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 chr 1:221,704,394...221,710,343
Ensembl chr 1:221,704,493...221,710,331
JBrowse link
G Ncam1 neural cell adhesion molecule 1 ISO protein:increased expression:pancreas RGD PMID:8972754 RGD:2326080 NCBI chr 8:53,836,797...54,134,881
Ensembl chr 8:53,839,098...53,901,358
JBrowse link
G Rps15 ribosomal protein S15 IEP RGD PMID:3019805 RGD:61740 NCBI chr 7:12,282,134...12,283,573
Ensembl chr 7:12,282,109...12,283,608
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 2:114,413,427...114,445,418
Ensembl chr 2:114,413,410...114,445,395
JBrowse link
G Tgfa transforming growth factor alpha ISO protein:increased expression:pancreas RGD PMID:8712689 RGD:2317472 NCBI chr 4:117,961,877...118,045,923
Ensembl chr 4:117,962,319...118,046,344
JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO mRNA, protein:decreased expression:pancreatic islet RGD PMID:18058603 RGD:2325017 NCBI chr 1:82,480,875...82,497,196
Ensembl chr 1:82,480,195...82,497,199
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:26530882, PMID:28492532 NCBI chr18:27,011,710...27,106,323
Ensembl chr18:27,047,382...27,105,531
JBrowse link
G Arid1a AT-rich interaction domain 1A disease_progression ISO RGD PMID:30849962 RGD:14974231 NCBI chr 5:151,904,687...151,977,973
Ensembl chr 5:151,904,684...151,977,636
JBrowse link
G Becn1 beclin 1 disease_progression ISO RGD PMID:30849962 RGD:14974231 NCBI chr10:89,209,944...89,225,297
Ensembl chr10:89,209,940...89,225,297
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 4:67,389,331...67,520,549
Ensembl chr 4:67,396,192...67,520,356
JBrowse link
G Fas Fas cell surface death receptor disease_progression ISO RGD PMID:11003620 RGD:14700701 NCBI chr 1:252,589,785...252,624,790
Ensembl chr 1:252,589,785...252,624,790
JBrowse link
G Faslg Fas ligand severity ISO RGD PMID:11003620 RGD:14700701 NCBI chr13:79,696,811...79,717,581
Ensembl chr13:79,698,445...79,705,705
JBrowse link
G Foxp3 forkhead box P3 IDA DNA:hypomethylation:liver RGD PMID:24291052 RGD:38599002 NCBI chr  X:15,753,175...15,768,648
Ensembl chr  X:15,753,175...15,768,522
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 9:71,882,108...71,911,645
Ensembl chr 9:71,882,105...71,900,044
JBrowse link
G Idh2 isocitrate dehydrogenase (NADP(+)) 2 disease_progression ISO DNA:mutations: : RGD PMID:22824796 RGD:14985256 NCBI chr 1:141,874,354...141,893,674
Ensembl chr 1:141,866,283...141,893,705
JBrowse link
G Kras KRAS proto-oncogene, GTPase disease_progression ISS
ISO
DNA:mutations:: MouseDO PMID:24139215 RGD:14398746 NCBI chr 4:179,482,562...179,515,483
Ensembl chr 4:179,486,105...179,515,558
JBrowse link
G Mir152 microRNA 152 ISO miRNA:decreased expression:intrahepatic bile duct RGD PMID:28921383 RGD:19165148 NCBI chr10:84,719,319...84,719,403
Ensembl chr10:84,719,319...84,719,403
JBrowse link
G Mir200b microRNA 200b ISO RNA:increased expression:liver RGD PMID:27685844 RGD:14928335 NCBI chr 5:173,490,144...173,490,238
Ensembl chr 5:173,490,144...173,490,238
JBrowse link
G Mir21 microRNA 21 ISO RNA:increased expression:liver,plasma RGD PMID:27685844 RGD:14928335 NCBI chr10:73,902,210...73,902,301
Ensembl chr10:73,902,210...73,902,301
JBrowse link
G Mir221 microRNA 221 severity ISO RGD PMID:27685844 RGD:14928335 NCBI chr  X:3,684,480...3,684,588
Ensembl chr  X:3,684,480...3,684,588
JBrowse link
G Smad4 SMAD family member 4 disease_progression ISO mRNA,protein:decreased expression:intrahepatic bile duct RGD PMID:16917866, PMID:23981608 RGD:18936999, RGD:21066336 NCBI chr18:69,626,682...69,657,373
Ensembl chr18:69,627,757...69,671,199
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 NCBI chr18:27,011,710...27,106,323
Ensembl chr18:27,047,382...27,105,531
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 5:64,805,772...64,818,813
Ensembl chr 5:64,805,773...64,818,824
JBrowse link
G Apobec1 apolipoprotein B mRNA editing enzyme catalytic subunit 1 IMP RGD PMID:9633945 RGD:10755510 NCBI chr 4:155,386,367...155,414,034
Ensembl chr 4:155,386,711...155,401,480
JBrowse link
G Cbx7 chromobox 7 ISO RGD PMID:22214847 RGD:9587356 NCBI chr 7:121,136,067...121,153,503
Ensembl chr 7:121,136,058...121,153,383
JBrowse link
G Cdkn1a cyclin-dependent kinase inhibitor 1A IEP protein:increased expression:liver RGD PMID:23890812 RGD:13792775 NCBI chr20:6,348,422...6,358,864
Ensembl chr20:6,351,458...6,358,864
JBrowse link
G Col1a1 collagen type I alpha 1 chain onset IEP mRNA:increased expression:liver (rat) RGD PMID:21295105 RGD:5130894 NCBI chr10:82,745,801...82,762,790
Ensembl chr10:82,745,801...82,762,789
JBrowse link
G Eif4g2 eukaryotic translation initiation factor 4, gamma 2 ISO RGD PMID:9633945 RGD:10755510 NCBI chr 1:175,883,362...175,895,510
Ensembl chr 1:175,883,363...175,895,510
JBrowse link
G H2ax H2A.X variant histone treatment IEP RGD PMID:23474136 RGD:8693737 NCBI chr 8:48,665,652...48,666,981
Ensembl chr 8:48,665,652...48,666,981
JBrowse link
G Hspa4 heat shock protein family A (Hsp70) member 4 IEP protein:increased expression:liver (rat) RGD PMID:22213170 RGD:5686872 NCBI chr10:38,601,624...38,642,397
Ensembl chr10:38,601,624...38,642,397
JBrowse link
G Il10 interleukin 10 treatment IEP RGD PMID:25168696 RGD:11049493 NCBI chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
JBrowse link
G Kmt5c lysine methyltransferase 5C disease_progression IEP protein:decreased expression:liver RGD PMID:16497704 RGD:9586726 NCBI chr 1:72,666,662...72,674,271
Ensembl chr 1:72,666,665...72,674,271
JBrowse link
G Map2k3 mitogen activated protein kinase kinase 3 ISO RGD PMID:24233520 RGD:7495808 NCBI chr10:45,089,455...45,110,802
Ensembl chr10:47,182,433...47,203,753
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 4:44,747,467...44,854,628
Ensembl chr 4:44,774,741...44,852,665
JBrowse link
G Mthfr methylenetetrahydrofolate reductase onset IEP mRNA:decreased expression:liver (rat) RGD PMID:22213190 RGD:6893663 NCBI chr 5:164,844,642...164,864,360
Ensembl chr 5:164,845,925...164,860,910
JBrowse link
G Nqo1 NAD(P)H quinone dehydrogenase 1 IEP RGD PMID:24418717 RGD:11035219 NCBI chr19:38,422,210...38,437,103
Ensembl chr19:38,422,164...38,437,180
JBrowse link
G Ttpa alpha tocopherol transfer protein IEP mRNA:decreased expression:liver RGD PMID:9178827 RGD:1600436 NCBI chr 5:34,007,926...34,029,315
Ensembl chr 5:34,007,920...34,028,452
JBrowse link
G Tut4 terminal uridylyl transferase 4 ISO human cells in a mouse model RGD PMID:24056962 RGD:11530012 NCBI chr 5:128,063,880...128,168,726
Ensembl chr 5:128,083,118...128,168,207
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 4:179,482,562...179,515,483
Ensembl chr 4:179,486,105...179,515,558
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
ISS
OMIM:181030 MouseDO PMID:10029085 RGD:1599086 NCBI chr 5:16,788,186...16,842,827
Ensembl chr 5:16,791,523...16,799,776
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 ISO OMIM NCBI chr 5:16,788,186...16,842,827
Ensembl chr 5:16,791,523...16,799,776
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 chr18:27,011,710...27,106,323
Ensembl chr18:27,047,382...27,105,531
JBrowse link
G Cdkn1b cyclin-dependent kinase inhibitor 1B ISO CTD Direct Evidence: marker/mechanism CTD PMID:15525823 NCBI chr 4:168,689,043...168,694,159
Ensembl chr 4:168,689,163...168,693,964
JBrowse link
G Egfr epidermal growth factor receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:16839708 NCBI chr14:99,919,485...100,104,136
Ensembl chr14:99,919,485...100,098,796
JBrowse link
G Fos Fos proto-oncogene, AP-1 transcription factor subunit ISO RGD PMID:21975339 RGD:13210759 NCBI chr 6:109,300,433...109,303,299
Ensembl chr 6:109,300,433...109,303,299
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 chr16:9,620,854...9,709,342
Ensembl chr16:9,625,177...9,709,347
JBrowse link
G Mcc MCC regulator of WNT signaling pathway ISO CTD Direct Evidence: marker/mechanism CTD PMID:8071957 NCBI chr18:35,683,185...35,817,117
NCBI chr 1:12,006,663...12,128,849
Ensembl chr 1:12,006,660...12,128,845
Ensembl chr18:12,006,660...12,128,845
JBrowse link
G Mthfr methylenetetrahydrofolate reductase severity ISO DNA:transition:cds:g.677C>T (human) RGD PMID:21865946 RGD:6893664 NCBI chr 5:164,844,642...164,864,360
Ensembl chr 5:164,845,925...164,860,910
JBrowse link
G Muc2 mucin 2, oligomeric mucus/gel-forming ISO CTD Direct Evidence: marker/mechanism CTD PMID:12468628 NCBI chr 1:214,663,929...214,693,197 JBrowse link
G Nras NRAS proto-oncogene, GTPase ISO CTD Direct Evidence: marker/mechanism CTD PMID:3102434 NCBI chr 2:205,553,119...205,563,716
Ensembl chr 2:205,553,163...205,560,791
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 2:118,831,350...118,861,456
Ensembl chr 2:118,831,350...118,861,454
JBrowse link
G Pik3cb phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta disease_progression ISO RGD PMID:25473181 RGD:13432031 NCBI chr 8:107,275,849...107,381,088
Ensembl chr 8:107,275,725...107,380,933
JBrowse link
G Pmepa1 prostate transmembrane protein, androgen induced 1 ISO mRNA:increased expression:rectum RGD PMID:11568975 RGD:2315108 NCBI chr 3:171,295,630...171,342,662
Ensembl chr 3:171,294,856...171,342,646
JBrowse link
G Tyms thymidylate synthetase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16931962 NCBI chr 9:121,918,875...121,931,564
Ensembl chr 9:121,918,947...121,931,564
JBrowse link
G Wrap53 WD repeat containing, antisense to TP53 treatment ISO RGD PMID:22805008 RGD:21081677 NCBI chr10:56,169,024...56,185,800
Ensembl chr10:56,169,025...56,185,857
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    disease of cellular proliferation 5918
      Neoplasms by Site 5283
        organ system benign neoplasm 466
          gastrointestinal system benign neoplasm 153
            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 + 31
            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 16023
    disease of anatomical entity 15278
      gastrointestinal system disease 4632
        Digestive System Neoplasms 1911
          Gastrointestinal Neoplasms 1771
            gastrointestinal system benign neoplasm 153
              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 + 31
              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.