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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:colon carcinoma
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Accession:DOID:1520 term browser browse the term
Definition:A colon cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. (DO)
Synonyms:exact_synonym: carcinoma of colon;   colonic carcinoma
 primary_id: RDO:9002019
 xref: NCI:C4910
For additional species annotation, visit the Alliance of Genome Resources.


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colon carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akt1 AKT serine/threonine kinase 1 ISO ClinVar Annotator: match by term: Colonic carcinoma ClinVar PMID:17611497 PMID:18256540 PMID:18392055 PMID:18504432 PMID:18611285 More... NCBI chrNW_004955538:3,208,711...3,224,386
Ensembl chrNW_004955538:3,208,710...3,229,904
JBrowse link
G Apc APC regulator of WNT signaling pathway ISO ClinVar Annotator: match by term: Carcinoma of colon
ClinVar Annotator: match by term: Colonic carcinoma
ClinVar PMID:1316610 PMID:1324223 PMID:1338764 PMID:1338904 PMID:1528264 More... NCBI chrNW_004955418:2,567,804...2,675,062
Ensembl chrNW_004955418:2,566,975...2,674,832
JBrowse link
G Atm ATM serine/threonine kinase ISO ClinVar Annotator: match by term: Carcinoma of colon ClinVar PMID:9792409 PMID:9887333 PMID:12673804 PMID:12697903 PMID:12810666 More... NCBI chrNW_004955412:10,422,753...10,531,406
Ensembl chrNW_004955412:10,426,135...10,530,545
JBrowse link
G Axin2 axin 2 ISO ClinVar Annotator: match by term: Colonic carcinoma
ClinVar Annotator: match by term: Carcinoma of colon
ClinVar PMID:11017067 PMID:15042511 PMID:21416598 PMID:28492532 NCBI chrNW_004955478:4,952,551...4,982,223
Ensembl chrNW_004955478:4,952,488...4,982,225
JBrowse link
G Bard1 BRCA1 associated RING domain 1 ISO ClinVar Annotator: match by term: Carcinoma of colon ClinVar PMID:19197335 PMID:20077502 PMID:25741868 PMID:26350354 PMID:26467025 More... NCBI chrNW_004955457:1,187,942...1,258,475
Ensembl chrNW_004955457:1,187,942...1,253,803
JBrowse link
G Bax BCL2 associated X, apoptosis regulator ISO ClinVar Annotator: match by term: Colonic carcinoma
ClinVar Annotator: match by term: Carcinoma of colon
ClinVar PMID:9020077 PMID:9453486 PMID:9531611 PMID:10984511 NCBI chrNW_004955559:1,695,960...1,700,246
Ensembl chrNW_004955559:1,695,960...1,700,244
JBrowse link
G Bcl10 BCL10 immune signaling adaptor ISO ClinVar Annotator: match by term: Colonic carcinoma ClinVar PMID:9989495 NCBI chrNW_004955423:8,710,231...8,720,530
Ensembl chrNW_004955423:8,709,890...8,722,050
JBrowse link
G Bmpr1a bone morphogenetic protein receptor type 1A ISO ClinVar Annotator: match by term: Carcinoma of colon
ClinVar Annotator: match by term: Colonic carcinoma
ClinVar PMID:12417513 PMID:14526373 PMID:15235019 PMID:18823382 PMID:23399955 More... NCBI chrNW_004955510:5,812,571...5,936,312
Ensembl chrNW_004955510:5,905,008...5,936,312
JBrowse link
G Braf B-Raf proto-oncogene, serine/threonine kinase treatment ISO ClinVar Annotator: match by term: Colonic carcinoma
ClinVar Annotator: match by term: Carcinoma of colon
RGD
ClinVar
PMID:12068308 PMID:12198537 PMID:12447372 PMID:12460918 PMID:12460919 More... RGD:11567267 NCBI chrNW_004955494:2,567,238...2,712,708 JBrowse link
G Brca1 BRCA1 DNA repair associated ISO ClinVar Annotator: match by term: Carcinoma of colon ClinVar PMID:25741868 PMID:26295337 PMID:26467025 PMID:28492532 NCBI chrNW_004955451:16,819,463...16,870,780
Ensembl chrNW_004955451:16,819,023...16,855,528
JBrowse link
G Brca2 BRCA2 DNA repair associated ISO ClinVar Annotator: match by term: Colonic carcinoma
ClinVar Annotator: match by term: Carcinoma of colon
ClinVar PMID:11030418 PMID:12491487 PMID:15744044 PMID:15937982 PMID:15983021 More... NCBI chrNW_004955431:13,449,287...13,526,878
Ensembl chrNW_004955431:13,449,543...13,527,432
JBrowse link
G Brip1 BRCA1 interacting helicase 1 ISO ClinVar Annotator: match by term: Colonic carcinoma
ClinVar Annotator: match by term: Carcinoma of colon
ClinVar PMID:16116423 PMID:16280053 PMID:17033622 PMID:18483852 PMID:21964575 More... NCBI chrNW_004955451:2,705,834...2,820,610
Ensembl chrNW_004955451:2,707,793...2,818,592
JBrowse link
G Bub1 BUB1 mitotic checkpoint serine/threonine kinase ISO ClinVar Annotator: match by term: Colonic carcinoma ClinVar PMID:9521327 NCBI chrNW_004955470:3,152,798...3,190,185
Ensembl chrNW_004955470:3,152,758...3,191,888
JBrowse link
G Bub1b BUB1 mitotic checkpoint serine/threonine kinase B ISO ClinVar Annotator: match by term: Colonic carcinoma ClinVar PMID:9521327 PMID:24728327 PMID:28492532 NCBI chrNW_004955416:7,105,302...7,159,121
Ensembl chrNW_004955416:7,105,261...7,160,012
JBrowse link
G Cdh1 cadherin 1 ISO ClinVar Annotator: match by term: Carcinoma of colon ClinVar PMID:25741868 PMID:28492532 PMID:30287823 NCBI chrNW_004955484:7,782,409...7,861,082
Ensembl chrNW_004955484:7,782,772...7,860,967
JBrowse link
G Chek2 checkpoint kinase 2 ISO ClinVar Annotator: match by term: Carcinoma of colon ClinVar PMID:14612911 PMID:15087378 PMID:17721994 PMID:18571837 PMID:21244692 More... NCBI chrNW_004955455:2,969,113...3,008,004
Ensembl chrNW_004955455:2,969,270...3,003,173
JBrowse link
G Crkl CRK like proto-oncogene, adaptor protein ISO RGD PMID:16391854 RGD:7488899 NCBI chrNW_004955442:19,358,202...19,388,552
Ensembl chrNW_004955442:19,358,081...19,388,815
JBrowse link
G Ctnnb1 catenin beta 1 ISO ClinVar Annotator: match by term: Colonic carcinoma ClinVar PMID:9065402 PMID:9294210 PMID:10192393 PMID:25157968 PMID:26619011 More... NCBI chrNW_004955420:29,030,716...29,047,447
Ensembl chrNW_004955420:29,030,716...29,047,449
JBrowse link
G CUNH11orf65 chromosome unknown C11orf65 homolog ISO ClinVar Annotator: match by term: Carcinoma of colon ClinVar PMID:17910737 PMID:19404735 PMID:20305132 PMID:25186627 PMID:25741868 More... NCBI chrNW_004955412:10,533,174...10,567,364
Ensembl chrNW_004955412:10,533,441...10,567,612
JBrowse link
G Cxcl10 C-X-C motif chemokine ligand 10 treatment ISO RGD PMID:30381616 RGD:27095891 NCBI chrNW_004955433:748,392...750,890
Ensembl chrNW_004955433:748,284...750,927
JBrowse link
G Dcc DCC netrin 1 receptor ISO ClinVar Annotator: match by term: Colonic carcinoma ClinVar PMID:8188295 NCBI chrNW_004955402:37,123,112...38,218,876
Ensembl chrNW_004955402:37,123,795...38,218,472
JBrowse link
G Dlc1 DLC1 Rho GTPase activating protein ISO ClinVar Annotator: match by term: Colonic carcinoma ClinVar PMID:10649492 NCBI chrNW_004955463:3,599,415...3,981,187
Ensembl chrNW_004955463:3,598,985...3,990,849
JBrowse link
G Ep300 E1A binding protein p300 ISO ClinVar Annotator: match by term: Carcinoma of colon
ClinVar Annotator: match by term: Colonic carcinoma
ClinVar PMID:10700188 PMID:28492532 NCBI chrNW_004955413:26,647,553...26,727,875
Ensembl chrNW_004955413:26,648,339...26,727,933
JBrowse link
G Epcam epithelial cell adhesion molecule ISO ClinVar Annotator: match by term: Carcinoma of colon ClinVar NCBI chrNW_004955441:14,155,084...14,167,584
Ensembl chrNW_004955441:14,155,082...14,169,161
JBrowse link
G Fancc FA complementation group C ISO ClinVar Annotator: match by term: Colonic carcinoma ClinVar PMID:25058500 PMID:27165003 NCBI chrNW_004955422:22,031,825...22,246,478
Ensembl chrNW_004955422:22,032,258...22,247,044
JBrowse link
G Fance FA complementation group E ISO ClinVar Annotator: match by term: Colonic carcinoma ClinVar PMID:25058500 PMID:27165003 PMID:28492532 NCBI chrNW_004955437:3,369,127...3,382,072
Ensembl chrNW_004955437:3,369,042...3,382,783
JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 ISO ClinVar Annotator: match by term: Colonic carcinoma
ClinVar Annotator: match by term: Carcinoma of colon
ClinVar PMID:1908846 PMID:7773297 PMID:8589699 PMID:8858131 PMID:9677066 More... NCBI chrNW_004955514:1,030,244...1,038,590
Ensembl chrNW_004955514:1,025,600...1,038,590
JBrowse link
G Flcn folliculin ISO ClinVar Annotator: match by term: Colonic carcinoma ClinVar PMID:12843323 PMID:15805188 PMID:15852235 PMID:16199547 PMID:18234728 More... NCBI chrNW_004955577:672,774...694,140 JBrowse link
G Flt1 fms related receptor tyrosine kinase 1 ISO ClinVar Annotator: match by term: Colonic carcinoma ClinVar NCBI chrNW_004955497:7,653,309...7,831,737
Ensembl chrNW_004955497:7,653,248...7,831,472
JBrowse link
G Flt3lg fms related receptor tyrosine kinase 3 ligand treatment ISO RGD PMID:10842197 RGD:11049504 NCBI chrNW_004955559:1,364,056...1,371,245
Ensembl chrNW_004955559:1,365,938...1,370,002
JBrowse link
G Flt4 fms related receptor tyrosine kinase 4 ISO ClinVar Annotator: match by term: Colonic carcinoma
ClinVar Annotator: match by term: Carcinoma of colon
ClinVar PMID:11807987 PMID:25741868 PMID:28492532 NCBI chrNW_004955408:98,995...137,922
Ensembl chrNW_004955408:107,056...140,056
JBrowse link
G Hpgd 15-hydroxyprostaglandin dehydrogenase ISO DNA:::adenoviral delivery of human gene in mouse model of colon cancer RGD PMID:19494278 RGD:5688759 NCBI chrNW_004955403:32,569,841...32,614,860
Ensembl chrNW_004955403:32,569,841...32,613,763
JBrowse link
G Igf2r insulin like growth factor 2 receptor ISO protein:increased expression:serum: RGD PMID:29940770 RGD:14985218 NCBI chrNW_004955439:20,754,915...20,874,759
Ensembl chrNW_004955439:20,752,855...20,851,281
JBrowse link
G Kdr kinase insert domain receptor treatment ISO ClinVar Annotator: match by term: Colonic carcinoma ClinVar
RGD
PMID:12415261 RGD:126925192 NCBI chrNW_004955447:15,810,816...15,851,702
Ensembl chrNW_004955447:15,810,815...15,853,583
JBrowse link
G Mcc MCC regulator of WNT signaling pathway ISO ClinVar Annotator: match by term: Carcinoma of colon ClinVar NCBI chrNW_004955408:32,928,519...33,265,049
Ensembl chrNW_004955408:32,928,519...33,264,727
JBrowse link
G Mlh1 mutL homolog 1 ISO ClinVar Annotator: match by term: Carcinoma of colon
ClinVar Annotator: match by term: Colonic carcinoma
ClinVar PMID:8521398 PMID:8581513 PMID:8776590 PMID:8797773 PMID:9071575 More... NCBI chrNW_004955421:3,890,291...3,936,892
Ensembl chrNW_004955421:3,890,306...3,936,526
JBrowse link
G Mlh3 mutL homolog 3 ISO ClinVar Annotator: match by term: Colonic carcinoma ClinVar PMID:11317354 NCBI chrNW_004955523:515,409...547,257
Ensembl chrNW_004955523:518,565...546,410
JBrowse link
G Msh2 mutS homolog 2 ISO ClinVar Annotator: match by term: Carcinoma of colon
ClinVar Annotator: match by term: Colonic carcinoma
ClinVar PMID:1061282 PMID:3616036 PMID:6096739 PMID:7726159 PMID:7874129 More... NCBI chrNW_004955441:14,188,315...14,247,608
Ensembl chrNW_004955441:14,187,805...14,247,698
JBrowse link
G Msh6 mutS homolog 6 ISO ClinVar Annotator: match by term: Carcinoma of colon
ClinVar Annotator: match by term: Colonic carcinoma
ClinVar PMID:1548301 PMID:8838326 PMID:9536098 PMID:10413423 PMID:10508506 More... NCBI chrNW_004955441:14,451,207...14,471,316
Ensembl chrNW_004955441:14,451,307...14,471,227
JBrowse link
G Mutyh mutY DNA glycosylase ISO ClinVar Annotator: match by term: Carcinoma of colon
ClinVar Annotator: match by term: Colonic carcinoma
ClinVar PMID:11295288 PMID:11818965 PMID:12393807 PMID:12606733 PMID:12853198 More... NCBI chrNW_004955464:12,927,669...12,936,894 JBrowse link
G Nbn nibrin ISO ClinVar Annotator: match by term: Carcinoma of colon ClinVar PMID:11325820 PMID:14559852 PMID:15338273 PMID:16474176 PMID:16810201 More... NCBI chrNW_004955417:6,840,916...6,880,479
Ensembl chrNW_004955417:6,839,312...6,880,133
JBrowse link
G Nras NRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Colonic carcinoma ClinVar PMID:2674680 PMID:3102434 PMID:8120410 PMID:16291983 PMID:18390968 More... NCBI chrNW_004955435:18,001,517...18,009,105
Ensembl chrNW_004955435:18,001,517...18,009,103
JBrowse link
G Palb2 partner and localizer of BRCA2 ISO ClinVar Annotator: match by term: Carcinoma of colon ClinVar PMID:18053174 PMID:21285249 PMID:21365267 PMID:21618343 PMID:22692731 More... NCBI chrNW_004955493:2,149,053...2,175,482
Ensembl chrNW_004955493:2,147,862...2,175,781
JBrowse link
G Pdgfra platelet derived growth factor receptor alpha ISO ClinVar Annotator: match by term: Carcinoma of colon ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chrNW_004955447:16,570,652...16,613,410
Ensembl chrNW_004955447:16,569,909...16,612,373
JBrowse link
G Pdgfrl platelet derived growth factor receptor like ISO ClinVar Annotator: match by term: Colonic carcinoma ClinVar PMID:7898930 NCBI chrNW_004955552:2,041,267...2,077,971
Ensembl chrNW_004955552:2,041,267...2,077,972
JBrowse link
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha ISO ClinVar Annotator: match by term: Colonic carcinoma ClinVar PMID:15016963 PMID:15254419 PMID:15520168 PMID:15608678 PMID:15647370 More... NCBI chrNW_004955420:8,355,415...8,427,024
Ensembl chrNW_004955420:8,356,353...8,427,024
JBrowse link
G Pms2 PMS1 homolog 2, mismatch repair system component ISO ClinVar Annotator: match by term: Carcinoma of colon ClinVar PMID:2402700 PMID:9536098 PMID:9683794 PMID:10037723 PMID:10480359 More... NCBI chrNW_004955460:13,762,854...13,791,462 JBrowse link
G Pold1 DNA polymerase delta 1, catalytic subunit ISO ClinVar Annotator: match by term: Colonic carcinoma
ClinVar Annotator: match by term: Carcinoma of colon
ClinVar PMID:15322521 PMID:15766587 PMID:16741161 PMID:17067213 PMID:17855454 More... NCBI chrNW_004955559:712,375...730,551
Ensembl chrNW_004955559:712,321...725,661
JBrowse link
G Pole DNA polymerase epsilon, catalytic subunit ISO ClinVar Annotator: match by term: Carcinoma of colon
ClinVar Annotator: match by term: Colonic carcinoma
ClinVar PMID:15766587 PMID:23263490 PMID:23447401 PMID:24033266 PMID:24480973 More... NCBI chrNW_004955482:373,467...418,000
Ensembl chrNW_004955482:373,555...417,266
JBrowse link
G Pparg peroxisome proliferator activated receptor gamma ISO ClinVar Annotator: match by term: Colonic carcinoma ClinVar PMID:10394368 NCBI chrNW_004955429:14,814,690...14,936,869
Ensembl chrNW_004955429:14,873,908...14,937,387
JBrowse link
G Prf1 perforin 1 ISO RGD PMID:22420317 RGD:6482822 NCBI chrNW_004955437:20,700,912...20,705,076
Ensembl chrNW_004955437:20,700,718...20,706,929
JBrowse link
G Pten phosphatase and tensin homolog ISO ClinVar Annotator: match by term: Carcinoma of colon ClinVar PMID:10555148 PMID:12372056 PMID:21194675 PMID:21659347 PMID:21956414 More... NCBI chrNW_004955425:5,007,811...5,091,829
Ensembl chrNW_004955425:5,014,147...5,091,829
JBrowse link
G Ptpn12 protein tyrosine phosphatase non-receptor type 12 ISO ClinVar Annotator: match by term: Colonic carcinoma ClinVar PMID:7509295 NCBI chrNW_004955410:7,556,283...7,599,170
Ensembl chrNW_004955410:7,557,103...7,599,139
JBrowse link
G Ptprj protein tyrosine phosphatase receptor type J ISO ClinVar Annotator: match by term: Colonic carcinoma ClinVar PMID:12089527 NCBI chrNW_004955422:396,266...438,792
Ensembl chrNW_004955422:399,357...443,054
JBrowse link
G Rad51c RAD51 paralog C ISO ClinVar Annotator: match by term: Carcinoma of colon ClinVar PMID:21537932 PMID:22538716 PMID:23117857 PMID:25186627 PMID:25318351 More... NCBI chrNW_004955451:4,053,195...4,178,226
Ensembl chrNW_004955451:4,145,226...4,178,487
JBrowse link
G Rad51d RAD51 paralog D ISO ClinVar Annotator: match by term: Carcinoma of colon ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955481:9,795,102...9,810,426
Ensembl chrNW_004955481:9,795,102...9,810,426
JBrowse link
G Rad54b RAD54 homolog B ISO ClinVar Annotator: match by term: Colonic carcinoma ClinVar PMID:10362364 NCBI chrNW_004955417:10,598,295...10,685,999
Ensembl chrNW_004955417:10,597,450...10,686,005
JBrowse link
G Rev3l REV3 like, DNA directed polymerase zeta catalytic subunit ISO ClinVar Annotator: match by term: Colonic carcinoma ClinVar PMID:25058500 PMID:27165003 NCBI chrNW_004955411:36,068,248...36,246,607
Ensembl chrNW_004955411:36,067,022...36,246,517
JBrowse link
G Smad4 SMAD family member 4 ISO ClinVar Annotator: match by term: Colonic carcinoma
ClinVar Annotator: match by term: Carcinoma of colon
ClinVar PMID:9582123 PMID:10398437 PMID:11920286 PMID:16152648 PMID:16436638 More... NCBI chrNW_004955402:35,956,080...36,001,746
Ensembl chrNW_004955402:35,961,165...35,994,538
JBrowse link
G Stk11 serine/threonine kinase 11 ISO ClinVar Annotator: match by term: Carcinoma of colon ClinVar PMID:14623934 PMID:15121768 PMID:25186949 PMID:25741868 PMID:26467025 More... NCBI chrNW_004955495:6,678,195...6,699,408
Ensembl chrNW_004955495:6,678,195...6,699,058
JBrowse link
G Tgfb1 transforming growth factor beta 1 disease_progression ISO RGD PMID:11166150 RGD:13432074 NCBI chrNW_004955555:274,405...288,441
Ensembl chrNW_004955555:270,652...288,441
JBrowse link
G Tgfb2 transforming growth factor beta 2 disease_progression ISO RGD PMID:10416598 PMID:11166150 RGD:13432074 RGD:13432084 NCBI chrNW_004955406:174,949...249,248
Ensembl chrNW_004955406:172,814...249,248
JBrowse link
G Tlr3 toll like receptor 3 ISO protein:increased expression:colon RGD PMID:23467704 RGD:21079438 NCBI chrNW_004955403:22,977,882...23,001,392
Ensembl chrNW_004955403:22,979,120...23,001,467
JBrowse link
G Tnfrsf17 TNF receptor superfamily member 17 ISO RGD PMID:11104810 RGD:2317311 NCBI chrNW_004955442:6,626,434...6,651,193
Ensembl chrNW_004955442:6,626,399...6,629,931
JBrowse link
G Tnfrsf1a TNF receptor superfamily member 1A ISO protein:increased expression:serum (human) RGD PMID:1655258 RGD:5131434 NCBI chrNW_004955413:3,982,670...3,996,320
Ensembl chrNW_004955413:3,981,400...3,996,021
JBrowse link
G Tnfrsf1b TNF receptor superfamily member 1B ISO protein:increased expression:serum (human) RGD PMID:1655258 RGD:5131434 NCBI chrNW_004955486:1,790,531...1,817,986
Ensembl chrNW_004955486:1,792,115...1,818,362
JBrowse link
G Toe1 target of EGR1, exonuclease ISO ClinVar Annotator: match by term: Carcinoma of colon ClinVar PMID:18271935 PMID:25741868 PMID:28492532 NCBI chrNW_004955464:12,924,185...12,927,567
Ensembl chrNW_004955464:12,924,191...12,927,567
JBrowse link
G Tp53 tumor protein p53 ISO ClinVar Annotator: match by term: Carcinoma of colon
ClinVar Annotator: match by term: Colonic carcinoma
ClinVar PMID:1565143 PMID:1565144 PMID:1683921 PMID:1978757 PMID:7732013 More... NCBI chrNW_004955467:9,241,391...9,256,716
Ensembl chrNW_004955467:9,252,130...9,255,928
JBrowse link
G Tyms thymidylate synthetase ISO human tumor in mouse model RGD PMID:17848948 RGD:5133430 NCBI chrNW_004955402:9,295,862...9,304,952
Ensembl chrNW_004955402:9,296,321...9,306,631
JBrowse link
G Uba52 ubiquitin A-52 residue ribosomal protein fusion product 1 ISO mRNA:increased expression:colonic mucosa (human) RGD PMID:8541345 RGD:11352739 NCBI chrNW_004955524:3,007,074...3,009,886
Ensembl chrNW_004955524:3,006,147...3,018,772
JBrowse link
G Vegfa vascular endothelial growth factor A treatment ISO RGD PMID:18657413 RGD:15003195 NCBI chrNW_004955437:9,527,445...9,541,908 JBrowse link
colon adenocarcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Anxa7 annexin A7 ISO protein:decreased expression:colon RGD PMID:17708571 RGD:2292654 NCBI chrNW_004955437:18,394,371...18,421,779 JBrowse link
G Apc APC regulator of WNT signaling pathway ISO associated with Adenomatous Polyposis Coli;DNA:point mutation:CDS:p.K1137X (3409A>T) (rat)
ClinVar Annotator: match by term: Adenocarcinoma of the colon
RGD
ClinVar
PMID:17360473 PMID:24033266 PMID:24728327 PMID:25741868 PMID:27978560 More... RGD:1601201 NCBI chrNW_004955418:2,567,804...2,675,062
Ensembl chrNW_004955418:2,566,975...2,674,832
JBrowse link
G Arid1a AT-rich interaction domain 1A disease_progression ISO protein:decreased expression:colorectum (human) RGD PMID:26980037 RGD:126790569 NCBI chrNW_004955452:6,068,631...6,120,759
Ensembl chrNW_004955452:6,068,631...6,120,759
JBrowse link
G Bax BCL2 associated X, apoptosis regulator susceptibility ISO DNA:frameshift mutation: ; RGD PMID:9020077 RGD:734633 NCBI chrNW_004955559:1,695,960...1,700,246
Ensembl chrNW_004955559:1,695,960...1,700,244
JBrowse link
G Bcl2 BCL2 apoptosis regulator treatment ISO human cells in mouse model RGD PMID:32504672 RGD:125097526 NCBI chrNW_004955402:46,911,125...47,084,214
Ensembl chrNW_004955402:46,916,266...47,084,485
JBrowse link
G Csf2 colony stimulating factor 2 treatment ISO RGD PMID:10830715 RGD:10450245 NCBI chrNW_004955408:3,452,009...3,454,255
Ensembl chrNW_004955408:3,451,965...3,454,312
JBrowse link
G Ctnnb1 catenin beta 1 ISO DNA:mutation RGD PMID:16886601 RGD:1599637 NCBI chrNW_004955420:29,030,716...29,047,447
Ensembl chrNW_004955420:29,030,716...29,047,449
JBrowse link
G Daxx death domain associated protein ISO protein:decreased expression:colon: RGD PMID:16569639 RGD:9587838 NCBI chrNW_004955437:1,869,692...1,874,041
Ensembl chrNW_004955437:1,869,572...1,873,050
JBrowse link
G Fech ferrochelatase ISO mRNA:decreased expression:colon RGD PMID:28075030 RGD:14700888 NCBI chrNW_004955402:41,902,868...41,938,099
Ensembl chrNW_004955402:41,902,868...41,938,174
JBrowse link
G Gata1 GATA binding protein 1 ISO RGD PMID:31069596 RGD:149735196 NCBI chrNW_004955543:334,581...342,042
Ensembl chrNW_004955543:334,061...342,061
JBrowse link
G Hmgb1 high mobility group box 1 ISO RGD PMID:20616616 RGD:10402080 NCBI chrNW_004955431:15,373,207...15,377,339
Ensembl chrNW_004955431:15,373,207...15,377,339
JBrowse link
G Il21 interleukin 21 treatment ISO RGD PMID:17695518 RGD:127285540 NCBI chrNW_004955428:18,057,096...18,065,492
Ensembl chrNW_004955428:18,057,096...18,065,492
JBrowse link
G Jak2 Janus kinase 2 treatment
ameliorates
ISO Human cell in mouse model
human cells in mouse model
RGD PMID:22050790 PMID:32504672 RGD:125097526 RGD:127285665 NCBI chrNW_004955434:9,227,897...9,341,208
Ensembl chrNW_004955434:9,227,595...9,341,208
JBrowse link
G Kdm6a lysine demethylase 6A ISO DNA:hypermethylation RGD PMID:33174323 RGD:150429730 NCBI chrNW_004955516:3,151,350...3,346,832
Ensembl chrNW_004955516:3,149,948...3,346,832
JBrowse link
G Mapk1 mitogen-activated protein kinase 1 ISO RGD PMID:24691442 RGD:13210775 NCBI chrNW_004955442:17,284,232...17,380,026
Ensembl chrNW_004955442:17,284,232...17,380,020
JBrowse link
G Mapk3 mitogen-activated protein kinase 3 ISO RGD PMID:24691442 RGD:13210775 NCBI chrNW_004955493:6,870,699...6,876,836
Ensembl chrNW_004955493:6,869,668...6,879,152
JBrowse link
G Mgmt O-6-methylguanine-DNA methyltransferase ISO mRNA:decreased expression:colon (rat) RGD PMID:16886601 RGD:1599637 NCBI chrNW_004955477:7,103,035...7,375,073
Ensembl chrNW_004955477:7,102,977...7,376,530
JBrowse link
G Msh6 mutS homolog 6 ISO ClinVar Annotator: match by term: Adenocarcinoma of the colon ClinVar PMID:25741868 NCBI chrNW_004955441:14,451,207...14,471,316
Ensembl chrNW_004955441:14,451,307...14,471,227
JBrowse link
G Pcsk5 proprotein convertase subtilisin/kexin type 5 ISO mRNA:decreased expression:colon: RGD PMID:19737405 RGD:11556207 NCBI chrNW_004955512:2,914,834...3,333,440
Ensembl chrNW_004955512:2,917,243...3,333,688
JBrowse link
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha ISO DNA:mutation RGD PMID:17575153 RGD:5685670 NCBI chrNW_004955420:8,355,415...8,427,024
Ensembl chrNW_004955420:8,356,353...8,427,024
JBrowse link
G Rac1 Rac family small GTPase 1 treatment ISO mRNA:alternative form RGD PMID:10597294 PMID:19561401 RGD:13432049 RGD:13432051 NCBI chrNW_004955460:13,270,159...13,295,562
Ensembl chrNW_004955460:13,270,159...13,311,351
JBrowse link
G Rad54l RAD54 like ISO ClinVar Annotator: match by term: Colonic adenocarcinoma ClinVar PMID:10362365 NCBI chrNW_004955464:11,996,512...12,033,525
Ensembl chrNW_004955464:11,996,512...12,033,490
JBrowse link
G Rnasel ribonuclease L severity ISO RGD PMID:23567782 RGD:40902808 NCBI chrNW_004955406:21,413,950...21,424,860
Ensembl chrNW_004955406:21,411,980...21,425,052
JBrowse link
G Srsf4 serine and arginine rich splicing factor 4 ISO mRNA:decreased expression:colon mucosa (human) RGD PMID:9865741 RGD:11039405 NCBI chrNW_004955452:8,143,850...8,174,830
Ensembl chrNW_004955452:8,142,500...8,174,869
JBrowse link
G Srsf5 serine and arginine rich splicing factor 5 ISO mRNA:decreased expression:colon mucosa (human) RGD PMID:9865741 RGD:11039405 NCBI chrNW_004955466:612,221...617,087
Ensembl chrNW_004955466:612,221...617,753
JBrowse link
G Srsf6 serine and arginine rich splicing factor 6 ISO mRNA:decreased expression:colon mucosa (human) RGD PMID:9865741 RGD:11039405 NCBI chrNW_004955445:13,663,474...13,669,102
Ensembl chrNW_004955445:13,661,209...13,669,102
JBrowse link
G Stat3 signal transducer and activator of transcription 3 treatment ISO human cells in mouse model RGD PMID:32504672 RGD:125097526 NCBI chrNW_004955451:16,320,326...16,348,505
Ensembl chrNW_004955451:16,319,904...16,357,687
JBrowse link
G Tert telomerase reverse transcriptase treatment ISO RGD PMID:19903903 RGD:11038656 NCBI chrNW_004955504:649,248...669,796
Ensembl chrNW_004955504:651,779...670,589
JBrowse link
G Tet2 tet methylcytosine dioxygenase 2 ISO mRNA:increased expression:colorectum, Cancer Stem-like Cells (human) RGD PMID:31057717 RGD:150429686 NCBI chrNW_004955496:3,885,684...3,963,056
Ensembl chrNW_004955496:3,885,035...3,926,106
JBrowse link
G Tgfb1 transforming growth factor beta 1 disease_progression ISO RGD PMID:9019169 RGD:13432089 NCBI chrNW_004955555:274,405...288,441
Ensembl chrNW_004955555:270,652...288,441
JBrowse link
G Vegfc vascular endothelial growth factor C ISO mRNA:increased expression:colon RGD PMID:18424890 RGD:2315488 NCBI chrNW_004955403:31,016,423...31,130,892 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12746
    disease of cellular proliferation 6153
      cancer 4445
        cell type cancer 3016
          carcinoma 2566
            colon carcinoma 96
              adenosquamous colon carcinoma 0
              colon adenocarcinoma + 31
              colon carcinoma in situ 0
              colon small cell carcinoma 0
              colon squamous cell carcinoma 0
              medullary colon carcinoma 0
Path 2
Term Annotations click to browse term
  disease 12746
    disease of anatomical entity 12427
      gastrointestinal system disease 5049
        Gastrointestinal Diseases 3670
          Gastrointestinal Neoplasms 2952
            Intestinal Neoplasms 1376
              intestinal cancer 722
                large intestine cancer 719
                  colorectal cancer 719
                    colon cancer 592
                      colon carcinoma 96
                        adenosquamous colon carcinoma 0
                        colon adenocarcinoma + 31
                        colon carcinoma in situ 0
                        colon small cell carcinoma 0
                        colon squamous cell carcinoma 0
                        medullary colon carcinoma 0
paths to the root