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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.


show annotations for term's descendants           Sort by:
 
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, PMID:19418217, PMID:19487299, PMID:19853286, PMID:20233444, PMID:20453058, PMID:21464312, PMID:21512767, PMID:21793738, PMID:22538770, PMID:22610119, PMID:22722201, PMID:22722839, PMID:22980975, PMID:23237847, PMID:23348505, PMID:23700467, PMID:23728071, PMID:23934607, PMID:24190505, PMID:24657128, PMID:25157968, PMID:26619011, PMID:28492532 NCBI chr14:85,417,229...85,444,722
Ensembl chr14:105,208,128...105,236,756
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:1338904, PMID:1528264, PMID:8187091, PMID:8381579, PMID:8940262, PMID:9288102, PMID:9585599, PMID:9724771, PMID:9731522, PMID:9731533, PMID:9751605, PMID:9831355, PMID:9869602, PMID:9869603, PMID:9869620, PMID:9950360, PMID:9973276, PMID:10439961, PMID:10679643, PMID:10737795, PMID:10938175, PMID:11001924, PMID:11159880, PMID:11207040, PMID:11354631, PMID:12173321, PMID:12533824, PMID:14624392, PMID:14633595, PMID:15712637, PMID:15929773, PMID:16140997, PMID:16228836, PMID:16569251, PMID:16875934, PMID:17854661, PMID:18343606, PMID:19047896, PMID:19768578, PMID:20223039, PMID:20685668, PMID:22703879, PMID:22810696, PMID:23204322, PMID:23576677, PMID:23896379, PMID:24033266, PMID:24310308, PMID:24416237, PMID:24599579, PMID:24728327, PMID:24861525, PMID:25157968, PMID:25604157, PMID:25741868, PMID:25980754, PMID:25981591, PMID:26187149, PMID:26300997, PMID:26314409, PMID:26332594, PMID:26394139, PMID:26421687, PMID:26467025, PMID:26625971, PMID:26845104, PMID:27146957, PMID:27153395, PMID:27978560, PMID:28050010, PMID:28135136, PMID:28135145, PMID:28492532, PMID:28749474, PMID:29478780, PMID:29506128, PMID:29961768, PMID:30152102, PMID:30426508, PMID:30487145 NCBI chr 5:108,070,697...108,208,273
Ensembl chr 5:113,904,352...114,009,709
JBrowse link
G AXIN2 axin 2 ISO ClinVar Annotator: match by term: Colonic carcinoma ClinVar PMID:11017067, PMID:28492532 NCBI chr17:59,476,336...59,509,358
Ensembl chr17:64,688,416...64,720,086
JBrowse link
G BARD1 BRCA1 associated RING domain 1 ISO ClinVar Annotator: match by term: Carcinoma of colon ClinVar PMID:25741868, PMID:26350354, PMID:28135145, PMID:28492532, PMID:31371347 NCBI chr2B:101,984,287...102,068,523
Ensembl chr2B:220,456,972...220,541,145
JBrowse link
G BAX BCL2 associated X, apoptosis regulator ISO ClinVar Annotator: match by term: Colonic carcinoma ClinVar PMID:9020077 NCBI chr19:45,955,926...45,962,870
Ensembl chr19:54,793,594...54,800,468
JBrowse link
G BCL10 BCL10 immune signaling adaptor ISO ClinVar Annotator: match by term: Colonic carcinoma ClinVar PMID:9989495 NCBI chr 1:117,823,388...117,834,314 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, PMID:12619120, PMID:12644542, PMID:12670889, PMID:12692057, PMID:12794760, PMID:12960123, PMID:14513361, PMID:14602780, PMID:14679157, PMID:15001635, PMID:15035987, PMID:15126572, PMID:15181070, PMID:15342696, PMID:15356022, PMID:15386408, PMID:15687339, PMID:15998781, PMID:16015629, PMID:16174717, PMID:16187918, PMID:16772349, PMID:17374713, PMID:17488796, PMID:17704260, PMID:17785355, PMID:18039235, PMID:18060073, PMID:18398503, PMID:18413255, PMID:19001320, PMID:19010912, PMID:19018267, PMID:19238210, PMID:19404918, PMID:19537845, PMID:19561230, PMID:20008640, PMID:20350999, PMID:20413299, PMID:20619739, PMID:20630094, PMID:20818844, PMID:20823850, PMID:20857202, PMID:21107320, PMID:21107323, PMID:21129611, PMID:21156289, PMID:21163703, PMID:21426297, PMID:21483012, PMID:21502544, PMID:21639808, PMID:21641636, PMID:21683865, PMID:21975775, PMID:22038996, PMID:22048237, PMID:22113612, PMID:22180495, PMID:22281684, PMID:22319199, PMID:22351686, PMID:22356324, PMID:22389471, PMID:22448344, PMID:22536370, PMID:22586120, PMID:22608338, PMID:22649091, PMID:22663011, PMID:22735384, PMID:22743296, PMID:22773810, PMID:22805292, PMID:22972589, PMID:22997239, PMID:23020132, PMID:23031422, PMID:23251002, PMID:23302800, PMID:23325582, PMID:23470635, PMID:23524406, PMID:23549875, PMID:23614898, PMID:23680146, PMID:23685455, PMID:23812671, PMID:23833300, PMID:23845441, PMID:23918947, PMID:24033266, PMID:24107445, PMID:24112392, PMID:24163374, PMID:24388723, PMID:24508103, PMID:24512911, PMID:24576830, PMID:24583796, PMID:24586605, PMID:24594804, PMID:24670642, PMID:24717435, PMID:25024077, PMID:25037139, PMID:25079330, PMID:25155755, PMID:25157968, PMID:25265492, PMID:25265494, PMID:25370471, PMID:25399551, PMID:25741868, PMID:25950823, PMID:25989278, PMID:26619011, PMID:26678033, PMID:27404270, PMID:27480103, PMID:28492532, PMID:28854169, PMID:28891408, PMID:29925953, PMID:31779674, PMID:31891627 RGD:11567267 NCBI chr 7:132,651,908...132,855,422
Ensembl chr 7:145,138,510...145,327,115
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:15937982, PMID:16758124, PMID:20167696, PMID:21520333, PMID:24814045, PMID:25058500, PMID:25348012, PMID:25741868, PMID:27165003, PMID:28223274, PMID:28492532, PMID:29394989, PMID:29849630, PMID:29881398, PMID:29884841, PMID:30254663 NCBI chr13:13,574,422...13,658,967
Ensembl chr13:32,010,066...32,091,332
JBrowse link
G BRIP1 BRCA1 interacting protein C-terminal helicase 1 ISO ClinVar Annotator: match by term: Colonic carcinoma ClinVar PMID:21964575, PMID:25058500, PMID:25741868, PMID:27165003, PMID:28492532 NCBI chr17:55,786,568...55,973,366
Ensembl chr17:60,901,073...61,083,462
JBrowse link
G BUB1 BUB1 mitotic checkpoint serine/threonine kinase ISO ClinVar Annotator: match by term: Colonic carcinoma ClinVar PMID:9521327 NCBI chr2A:91,393,317...91,433,579
Ensembl chr2A:111,793,236...111,858,392
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 chr15:19,095,383...19,155,557
Ensembl chr15:37,350,826...37,410,648
JBrowse link
G CRKL CRK like proto-oncogene, adaptor protein ISO RGD PMID:16391854 RGD:7488899 NCBI chr22:3,141,147...3,177,448
Ensembl chr22:19,632,359...19,668,858
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, PMID:26822237 NCBI chr 3:41,104,940...41,145,934
Ensembl chr 3:41,373,726...41,414,030
JBrowse link
G CXCL10 C-X-C motif chemokine ligand 10 treatment ISO RGD PMID:30381616 RGD:27095891 NCBI chr 4:48,182,355...48,184,733
Ensembl chr 4:54,020,204...54,022,606
JBrowse link
G CXCL6 C-X-C motif chemokine ligand 6 disease_progression ISO RGD PMID:18413816 RGD:5135268 NCBI chr 4:50,357,643...50,359,822
Ensembl chr 4:56,189,961...56,192,402
JBrowse link
G DCC DCC netrin 1 receptor ISO ClinVar Annotator: match by term: Colonic carcinoma ClinVar PMID:8188295 NCBI chr18:45,717,924...46,913,998
Ensembl chr18:49,268,812...50,255,155
JBrowse link
G DLC1 DLC1 Rho GTPase activating protein ISO ClinVar Annotator: match by term: Colonic carcinoma ClinVar PMID:10649492 NCBI chr 8:12,282,190...12,809,770
Ensembl chr 8:9,037,742...9,460,233
JBrowse link
G EP300 E1A binding protein p300 ISO ClinVar Annotator: match by term: Colonic carcinoma
ClinVar Annotator: match by term: Carcinoma of colon
ClinVar PMID:10700188, PMID:28492532 NCBI chr22:21,986,467...22,076,921
Ensembl chr22:40,079,503...40,168,604
JBrowse link
G FANCC FA complementation group C ISO ClinVar Annotator: match by term: Colonic carcinoma ClinVar PMID:25058500, PMID:27165003 NCBI chr 9:66,201,581...66,418,229
Ensembl chr 9:94,329,971...94,477,198
JBrowse link
G FANCE FA complementation group E ISO ClinVar Annotator: match by term: Colonic carcinoma ClinVar PMID:25058500, PMID:27165003, PMID:28492532 NCBI chr 6:35,012,076...35,027,018 JBrowse link
G FGFR3 fibroblast growth factor receptor 3 ISO ClinVar Annotator: match by term: Colonic carcinoma ClinVar PMID:1908846, PMID:7773297, PMID:8589699, PMID:8858131, PMID:9677066, PMID:10073901, PMID:10471491, PMID:10696568, PMID:11038465, PMID:11241532, PMID:11529856, PMID:11879084, PMID:11906172, PMID:12833394, PMID:15772091, PMID:16841094, PMID:17384684, PMID:18642369, PMID:19381019, PMID:19749790, PMID:25157968, PMID:25606676, PMID:25741868, PMID:26619011, PMID:28492532, PMID:30311386 NCBI chr 4:1,933,172...1,948,742 JBrowse link
G FLCN folliculin ISO ClinVar Annotator: match by term: Colonic carcinoma ClinVar PMID:12843323, PMID:15805188, PMID:15852235, PMID:18234728, PMID:19457309, PMID:19802896, PMID:20618353, PMID:21937013, PMID:22703879, PMID:23050938, PMID:24033266, PMID:24393238, PMID:24728327, PMID:25594584, PMID:25741868, PMID:28492532, PMID:28558743 NCBI chr17:34,057,127...34,081,637
Ensembl chr17:38,988,518...39,013,160
JBrowse link
G FLT1 fms related receptor tyrosine kinase 1 ISO ClinVar Annotator: match by term: Colonic carcinoma ClinVar NCBI chr13:9,584,850...9,779,542 JBrowse link
G FLT3LG fms related receptor tyrosine kinase 3 ligand treatment ISO RGD PMID:10842197 RGD:11049504 NCBI chr19:46,486,169...46,499,008 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 chr 5:175,804,728...175,852,703
Ensembl chr 5:183,115,856...183,149,006
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 chr 4:166,716,386...166,749,225
Ensembl chr 4:178,949,137...178,982,910
JBrowse link
G IGF2R insulin like growth factor 2 receptor ISO protein:increased expression:serum: RGD PMID:29940770 RGD:14985218 NCBI chr 6:157,852,565...157,990,049
Ensembl chr 6:162,878,661...162,997,762
JBrowse link
G KDR kinase insert domain receptor ISO ClinVar Annotator: match by term: Colonic carcinoma ClinVar NCBI chr 4:68,813,894...68,861,018
Ensembl chr 4:75,377,375...75,427,109
JBrowse link
G MCC MCC regulator of WNT signaling pathway ISO ClinVar Annotator: match by term: Colonic carcinoma ClinVar PMID:1848370 NCBI chr 5:108,382,066...108,845,503
Ensembl chr 5:114,184,907...114,647,847
JBrowse link
G MLH1 mutL homolog 1 ISO ClinVar Annotator: match by term: Carcinoma of colon ClinVar PMID:10495924, PMID:11555625, PMID:11781295, PMID:11948175, PMID:12386821, PMID:12547705, PMID:12658575, PMID:14699485, PMID:15713769, PMID:15731775, PMID:15849733, PMID:15926618, PMID:16995940, PMID:17054581, PMID:17135187, PMID:17210669, PMID:17312306, PMID:17510385, PMID:18205192, PMID:18561205, PMID:19419416, PMID:19698169, PMID:20020535, PMID:20587412, PMID:20682701, PMID:20864636, PMID:21404117, PMID:21952876, PMID:22703879, PMID:22736432, PMID:22753075, PMID:22949379, PMID:24033266, PMID:24344984, PMID:24362816, PMID:25741868, PMID:26247049, PMID:28445943, PMID:28492532 NCBI chr 3:36,899,828...36,957,076
Ensembl chr 3:37,189,439...37,245,801
JBrowse link
G MLH3 mutL homolog 3 ISO ClinVar Annotator: match by term: Colonic carcinoma ClinVar PMID:11317354 NCBI chr14:55,568,033...55,603,672
Ensembl chr14:74,413,319...74,445,749
JBrowse link
G MSH2 mutS homolog 2 ISO ClinVar Annotator: match by term: Carcinoma of colon ClinVar PMID:8062247, PMID:8261515, PMID:9288790, PMID:9718327, PMID:10793088, PMID:12362047, PMID:14970868, PMID:15713769, PMID:15731775, PMID:15849733, PMID:17312306, PMID:17414604, PMID:19459153, PMID:19698169, PMID:20223024, PMID:20591884, PMID:21239990, PMID:21590452, PMID:24278394, PMID:24710284, PMID:25741868, PMID:26467025, PMID:27016151, PMID:28492532, PMID:29238914, PMID:30376427 NCBI chr2A:47,524,468...47,602,376
Ensembl chr2A:48,447,207...48,554,461
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:11818965, PMID:12606733, PMID:14579148, PMID:14991577, PMID:15188161, PMID:15236166, PMID:15366000, PMID:15635083, PMID:15931596, PMID:15987719, PMID:16134147, PMID:16140997, PMID:16338133, PMID:16492921, PMID:16557584, PMID:16616356, PMID:16941501, PMID:17122612, PMID:17219385, PMID:17368238, PMID:17489848, PMID:17524638, PMID:17581577, PMID:17674103, PMID:17949294, PMID:17956577, PMID:18271935, PMID:18414213, PMID:18506705, PMID:18534194, PMID:19032956, PMID:19245865, PMID:19394335, PMID:19527492, PMID:19531215, PMID:19725997, PMID:19732775, PMID:19793053, PMID:19836313, PMID:19953527, PMID:19998059, PMID:20191381, PMID:20418187, PMID:20618354, PMID:20663686, PMID:20687945, PMID:20725929, PMID:20848659, PMID:21063410, PMID:21167187, PMID:21171015, PMID:21178863, PMID:21443744, PMID:21520333, PMID:21777424, PMID:21815886, PMID:21952991, PMID:22158503, PMID:22266422, PMID:22297469, PMID:22402879, PMID:22473953, PMID:22641385, PMID:22703879, PMID:22722201, PMID:22744763, PMID:22865608, PMID:22922830, PMID:22926731, PMID:22976915, PMID:23007840, PMID:23035301, PMID:23108399, PMID:23322991, PMID:23361220, PMID:23561487, PMID:23605219, PMID:23625202, PMID:23805267, PMID:24033266, PMID:24039736, PMID:24082139, PMID:24278394, PMID:24444654, PMID:24470512, PMID:24691292, PMID:24728327, PMID:24799981, PMID:24953332, PMID:25525159, PMID:25569433, PMID:25741868, PMID:25820570, PMID:25937855, PMID:25980754, PMID:26377631, PMID:26467025, PMID:26681312, PMID:26822237, PMID:26845104, PMID:26976419, PMID:27145315, PMID:27153395, PMID:27600092, PMID:27621404, PMID:27829682, PMID:28135145, PMID:28492532, PMID:28634180, PMID:28944238, PMID:30151275, PMID:30256826, PMID:30564557 NCBI chr 1:44,632,102...44,643,292 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, PMID:18633438, PMID:20130576, PMID:20179705, PMID:22962325, PMID:23414587, PMID:25157968, PMID:26619011 NCBI chr 1:87,837,146...87,850,013
Ensembl chr 1:122,890,505...122,903,585
JBrowse link
G PALB2 partner and localizer of BRCA2 ISO ClinVar Annotator: match by term: Carcinoma of colon ClinVar PMID:18053174, PMID:25741868, PMID:26283626, PMID:26315354, PMID:26467025, PMID:26580448, PMID:26689913, PMID:28135145, PMID:28492532, PMID:28944238 NCBI chr16:14,470,367...14,507,841
Ensembl chr16:23,855,535...23,892,117
JBrowse link
G PDGFRL platelet derived growth factor receptor like ISO ClinVar Annotator: match by term: Colonic carcinoma ClinVar PMID:7898930 NCBI chr 8:16,795,211...16,862,637
Ensembl chr 8:13,747,164...13,816,294
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, PMID:15805248, PMID:16906227, PMID:16930767, PMID:17376864, PMID:17673550, PMID:18676830, PMID:18725974, PMID:19029981, PMID:19223544, PMID:19366826, PMID:19513541, PMID:19903786, PMID:20453058, PMID:20619739, PMID:21430269, PMID:21558396, PMID:21824802, PMID:22162582, PMID:22162589, PMID:22271473, PMID:22658544, PMID:22729222, PMID:22729223, PMID:22729224, PMID:23066039, PMID:23100325, PMID:23888070, PMID:24033266, PMID:24265155, PMID:24782230, PMID:25157968, PMID:25741868, PMID:26266975, PMID:26266985, PMID:26619011, PMID:26822237, PMID:27626068, PMID:27631024, PMID:28492532 NCBI chr 3:176,182,765...176,272,024
Ensembl chr 3:184,355,785...184,441,977
JBrowse link
G POLD1 DNA polymerase delta 1, catalytic subunit ISO ClinVar Annotator: match by term: Colonic carcinoma ClinVar PMID:25637381, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr19:47,347,919...47,381,772
Ensembl chr19:56,251,356...56,297,611
JBrowse link
G PPARG peroxisome proliferator activated receptor gamma ISO ClinVar Annotator: match by term: Colonic carcinoma ClinVar PMID:10394368 NCBI chr 3:12,215,322...12,361,669
Ensembl chr 3:12,622,397...12,705,060
JBrowse link
G PRF1 perforin 1 ISO RGD PMID:22420317 RGD:6482822 NCBI chr10:67,071,141...67,078,057
Ensembl chr10:69,597,574...69,603,070
JBrowse link
G PTPN12 protein tyrosine phosphatase non-receptor type 12 ISO ClinVar Annotator: match by term: Colonic carcinoma ClinVar PMID:7509295 NCBI chr 7:69,457,158...69,560,111
Ensembl chr 7:83,268,834...83,371,120
JBrowse link
G PTPRJ protein tyrosine phosphatase receptor type J ISO ClinVar Annotator: match by term: Colonic carcinoma ClinVar PMID:12089527 NCBI chr11:47,941,134...48,130,538
Ensembl chr11:48,613,761...48,670,494
JBrowse link
G RAD54B RAD54 homolog B ISO ClinVar Annotator: match by term: Colonic carcinoma ClinVar PMID:10362364 NCBI chr 8:90,995,229...91,098,149
Ensembl chr 8:92,939,535...93,034,060
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 chr 6:109,104,341...109,291,268
Ensembl chr 6:113,181,759...113,367,625
JBrowse link
G TGFB1 transforming growth factor beta 1 disease_progression ISO RGD PMID:11166150 RGD:13432074 NCBI chr19:38,324,009...38,347,003
Ensembl chr19:46,831,659...46,852,973
JBrowse link
G TGFB2 transforming growth factor beta 2 disease_progression ISO RGD PMID:10416598, PMID:11166150 RGD:13432074, RGD:13432084 NCBI chr 1:193,907,398...194,005,800
Ensembl chr 1:198,758,751...198,859,041
JBrowse link
G TLR3 toll like receptor 3 ISO protein:increased expression:colon RGD PMID:23467704 RGD:21079438 NCBI chr 4:178,238,352...178,256,264
Ensembl chr 4:190,446,487...190,462,728
JBrowse link
G TNFRSF17 TNF receptor superfamily member 17 ISO RGD PMID:11104810 RGD:2317311 NCBI chr16:10,903,795...10,906,542
Ensembl chr16:12,333,254...12,336,219
JBrowse link
G TNFRSF1A TNF receptor superfamily member 1A ISO protein:increased expression:serum (human) RGD PMID:1655258 RGD:5131434 NCBI chr12:6,457,617...6,470,969
Ensembl chr12:6,374,257...6,387,613
JBrowse link
G TNFRSF1B TNF receptor superfamily member 1B ISO protein:increased expression:serum (human) RGD PMID:1655258 RGD:5131434 NCBI chr 1:10,915,743...10,957,765
Ensembl chr 1:12,130,663...12,172,646
JBrowse link
G TP53 tumor protein p53 ISO ClinVar Annotator: match by term: Colonic carcinoma
ClinVar Annotator: match by term: Carcinoma of colon
ClinVar PMID:1565143, PMID:1565144, PMID:1683921, PMID:1978757, PMID:7732013, PMID:7887414, PMID:8164043, PMID:8198984, PMID:8203469, PMID:8423216, PMID:8825920, PMID:9047394, PMID:9242456, PMID:9290701, PMID:9569050, PMID:9865903, PMID:10064694, PMID:10411893, PMID:10797439, PMID:10864200, PMID:11040944, PMID:11101847, PMID:11139324, PMID:11180592, PMID:11391594, PMID:11479205, PMID:11782540, PMID:11920959, PMID:12007217, PMID:12619118, PMID:12672316, PMID:12826609, PMID:15004724, PMID:15173255, PMID:15381368, PMID:15390294, PMID:15580553, PMID:15607980, PMID:15607981, PMID:15825182, PMID:15925506, PMID:15951970, PMID:15977174, PMID:16401470, PMID:16489069, PMID:16682957, PMID:16818505, PMID:17224268, PMID:17289876, PMID:17540308, PMID:17606709, PMID:17636407, PMID:17727479, PMID:18391940, PMID:18511570, PMID:18555592, PMID:19127115, PMID:19367569, PMID:19556618, PMID:19881536, PMID:20113312, PMID:20128691, PMID:20407015, PMID:20516128, PMID:20689556, PMID:20693561, PMID:21187651, PMID:21232794, PMID:21305319, PMID:21343334, PMID:21484931, PMID:21512767, PMID:21519010, PMID:21552135, PMID:21601526, PMID:21761402, PMID:22006311, PMID:22110706, PMID:22186996, PMID:22233476, PMID:22652532, PMID:22698404, PMID:22710932, PMID:22811390, PMID:22899716, PMID:22915647, PMID:22919068, PMID:23161690, PMID:23246812, PMID:23263379, PMID:23484829, PMID:23538418, PMID:23792586, PMID:23894400, PMID:24033266, PMID:24381225, PMID:24487413, PMID:24501221, PMID:24573247, PMID:24641375, PMID:24651012, PMID:24677579, PMID:24728327, PMID:24810334, PMID:24868540, PMID:25157968, PMID:25525159, PMID:25527155, PMID:25584008, PMID:25741868, PMID:25787918, PMID:25952993, PMID:26086041, PMID:26230955, PMID:26467025, PMID:26585234, PMID:26619011, PMID:26681312, PMID:26822237, PMID:26845104, PMID:27153395, PMID:27276561, PMID:27374712, PMID:27463065, PMID:27493922, PMID:27516001, PMID:27680515, PMID:27683180, PMID:27895058, PMID:27959731, PMID:28125078, PMID:28349240, PMID:28369373, PMID:28453743, PMID:28492532, PMID:28772286, PMID:28861920, PMID:29478780, PMID:29489754, PMID:29945567, PMID:30076369, PMID:30224644, PMID:30287823, PMID:30327374, PMID:30374176, PMID:30883245, PMID:31016814, PMID:31159747 NCBI chr17:7,699,449...7,717,812
Ensembl chr17:7,684,922...7,706,120
JBrowse link
G TYMS thymidylate synthetase ISO human tumor in mouse model RGD PMID:17848948 RGD:5133430 NCBI chr18:13,653,085...13,668,478
Ensembl chr18:17,295,182...17,310,320
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 chr19:18,040,946...18,052,445 JBrowse link
G VEGFA vascular endothelial growth factor A treatment ISO RGD PMID:18657413 RGD:15003195 NCBI chr 6:43,361,053...43,377,366
Ensembl chr 6:44,650,365...44,666,353
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 chr10:69,923,353...69,962,980
Ensembl chr10:72,381,447...72,420,749
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, PMID:28492532 RGD:1601201 NCBI chr 5:108,070,697...108,208,273
Ensembl chr 5:113,904,352...114,009,709
JBrowse link
G BAX BCL2 associated X, apoptosis regulator susceptibility ISO DNA:frameshift mutation: ; RGD PMID:9020077 RGD:734633 NCBI chr19:45,955,926...45,962,870
Ensembl chr19:54,793,594...54,800,468
JBrowse link
G CSF2 colony stimulating factor 2 treatment ISO RGD PMID:10830715 RGD:10450245 NCBI chr 5:127,496,951...127,499,325
Ensembl chr 5:133,660,775...133,663,146
JBrowse link
G CTNNB1 catenin beta 1 ISO DNA:mutation RGD PMID:16886601 RGD:1599637 NCBI chr 3:41,104,940...41,145,934
Ensembl chr 3:41,373,726...41,414,030
JBrowse link
G DAXX death domain associated protein ISO protein:decreased expression:colon: RGD PMID:16569639 RGD:9587838 NCBI chr 6:32,890,846...32,895,307
Ensembl chr 6:34,004,543...34,008,717
JBrowse link
G FECH ferrochelatase ISO mRNA:decreased expression:colon RGD PMID:28075030 RGD:14700888 NCBI chr18:50,934,520...50,977,132
Ensembl chr18:54,273,527...54,312,378
JBrowse link
G HMGB1 high mobility group box 1 ISO RGD PMID:20616616 RGD:10402080 NCBI chr13:11,737,942...11,894,923 JBrowse link
G MAPK1 mitogen-activated protein kinase 1 ISO RGD PMID:24691442 RGD:13210775 NCBI chr22:3,883,119...3,990,368
Ensembl chr22:20,365,487...20,450,335
JBrowse link
G MAPK3 mitogen-activated protein kinase 3 ISO RGD PMID:24691442 RGD:13210775 Ensembl chr16:30,489,362...30,498,017 JBrowse link
G MGMT O-6-methylguanine-DNA methyltransferase ISO mRNA:decreased expression:colon (rat) RGD PMID:16886601 RGD:1599637 NCBI chr10:126,059,701...126,365,850
Ensembl chr10:130,305,485...130,609,422
JBrowse link
G MSH2 mutS homolog 2 ISO ClinVar Annotator: match by term: Adenocarcinoma of the colon ClinVar PMID:8261515, PMID:10978353, PMID:14580774, PMID:15365996, PMID:15655560, PMID:16614121, PMID:17374836, PMID:18325052, PMID:18561205, PMID:22977643, PMID:24033266, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr2A:47,524,468...47,602,376
Ensembl chr2A:48,447,207...48,554,461
JBrowse link
G MSH6 mutS homolog 6 ISO ClinVar Annotator: match by term: Adenocarcinoma of the colon ClinVar PMID:25741868 NCBI chr2A:47,901,591...47,926,662
Ensembl chr2A:48,824,350...48,849,779
JBrowse link
G PCSK5 proprotein convertase subtilisin/kexin type 5 ISO mRNA:decreased expression:colon: RGD PMID:19737405 RGD:11556207 NCBI chr 9:48,480,607...48,943,331
Ensembl chr 9:74,745,761...75,220,502
JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha ISO DNA:mutation RGD PMID:17575153 RGD:5685670 NCBI chr 3:176,182,765...176,272,024
Ensembl chr 3:184,355,785...184,441,977
JBrowse link
G PIK3R3 phosphoinositide-3-kinase regulatory subunit 3 treatment ISO RGD PMID:24632606 RGD:13432053 NCBI chr 1:45,345,946...45,481,031
Ensembl chr 1:46,700,153...46,792,920
JBrowse link
G PPM1D protein phosphatase, Mg2+/Mn2+ dependent 1D ISO ClinVar Annotator: match by term: Adenocarcinoma of the colon ClinVar PMID:30311386 NCBI chr17:54,698,338...54,761,889
Ensembl chr17:59,824,566...59,887,015
JBrowse link
G RAC1 Rac family small GTPase 1 treatment ISO mRNA:alternative form RGD PMID:10597294, PMID:19561401 RGD:13432049, RGD:13432051 NCBI chr 7:7,039,379...7,068,866 JBrowse link
G RAD54L RAD54 like ISO ClinVar Annotator: match by term: Colonic adenocarcinoma ClinVar PMID:10362365 NCBI chr 1:45,549,586...45,581,711
Ensembl chr 1:46,905,598...46,936,259
JBrowse link
G SRSF4 serine and arginine rich splicing factor 4 ISO mRNA:decreased expression:colon mucosa (human) RGD PMID:9865741 RGD:11039405 NCBI chr 1:28,418,297...28,452,595
Ensembl chr 1:29,444,269...29,478,035
JBrowse link
G SRSF5 serine and arginine rich splicing factor 5 ISO mRNA:decreased expression:colon mucosa (human) RGD PMID:9865741 RGD:11039405 NCBI chr14:50,320,820...50,365,650
Ensembl chr14:69,230,730...69,236,596
JBrowse link
G SRSF6 serine and arginine rich splicing factor 6 ISO mRNA:decreased expression:colon mucosa (human) RGD PMID:9865741 RGD:11039405 NCBI chr20:39,795,659...39,801,864
Ensembl chr20:40,888,560...40,891,853
JBrowse link
G TERT telomerase reverse transcriptase treatment ISO RGD PMID:19903903 RGD:11038656 NCBI chr 5:1,542,217...1,586,775
Ensembl chr 5:1,300,960...1,338,872
JBrowse link
G TGFB1 transforming growth factor beta 1 disease_progression ISO RGD PMID:9019169 RGD:13432089 NCBI chr19:38,324,009...38,347,003
Ensembl chr19:46,831,659...46,852,973
JBrowse link
G VEGFC vascular endothelial growth factor C ISO mRNA:increased expression:colon RGD PMID:18424890 RGD:2315488 NCBI chr 4:168,870,941...168,999,160
Ensembl chr 4:181,104,737...181,236,030
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12749
    disease of cellular proliferation 5477
      cancer 4009
        cell type cancer 2960
          carcinoma 1943
            colon carcinoma 73
              adenosquamous colon carcinoma 0
              colon adenocarcinoma + 25
              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 12749
    disease of anatomical entity 12279
      gastrointestinal system disease 4004
        Gastrointestinal Diseases 2406
          Gastrointestinal Neoplasms 1655
            Intestinal Neoplasms 643
              intestinal cancer 229
                large intestine cancer 225
                  colorectal cancer 225
                    colon cancer 124
                      colon carcinoma 73
                        adenosquamous colon carcinoma 0
                        colon adenocarcinoma + 25
                        colon carcinoma in situ 0
                        colon small cell carcinoma 0
                        colon squamous cell carcinoma 0
                        medullary colon carcinoma 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.