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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:colorectal adenocarcinoma
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Accession:DOID:0050861 term browser browse the term
Definition:A colorectal carcinoma that derives_from epithelial cells of glandular origin. (DO)
Synonyms:xref: NCI:C5105
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
colorectal adenocarcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb1a ATP binding cassette subfamily B member 1A susceptibility ISO DNA:polymorphism: :3435C>T (human) RGD PMID:16107775 RGD:2312343 NCBI chr 4:22,339,829...22,517,642
Ensembl chr 4:22,133,521...22,425,515
JBrowse link
G Abcb1b ATP-binding cassette, subfamily B (MDR/TAP), member 1B IDA RGD PMID:16619498 RGD:1598563 NCBI chr 4:22,225,123...22,307,577
Ensembl chr 4:22,133,521...22,425,515
JBrowse link
G Arpc2 actin related protein 2/3 complex, subunit 2 ISO mRNA:decreased expression:colonic mucosa (human) RGD PMID:25107436 RGD:11049173 NCBI chr 9:81,518,163...81,548,871
Ensembl chr 9:81,518,176...81,548,871
JBrowse link
G Bcl2l1 Bcl2-like 1 ISO protein:increased expression:colonic mucosa (human) RGD PMID:8625322 RGD:11353854 NCBI chr 3:148,259,594...148,314,191
Ensembl chr 3:148,259,596...148,313,810
JBrowse link
G Bcl2l2 Bcl2-like 2 disease_progression ISO RGD PMID:10638987 RGD:14394422 NCBI chr15:33,543,774...33,549,165
Ensembl chr15:33,544,312...33,549,164
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 Braf B-Raf proto-oncogene, serine/threonine kinase disease_progression ISO RGD PMID:24500602 RGD:11567230 NCBI chr 4:67,389,331...67,520,549
Ensembl chr 4:67,396,192...67,520,356
JBrowse link
G Brd8 bromodomain containing 8 disease_progression IEP RGD PMID:19787264 RGD:9587763 NCBI chr18:27,375,645...27,423,989
Ensembl chr18:27,398,688...27,424,090
JBrowse link
G Cd44 CD44 molecule (Indian blood group) disease_progression ISO mRNA, protein:splice variant, increased expression:large intestine RGD PMID:16425351 RGD:2289356 NCBI chr 3:92,695,083...92,783,820
Ensembl chr 3:92,696,313...92,783,658
JBrowse link
G Dnmt3b DNA methyltransferase 3 beta susceptibility ISO DNA:SNP: : 39179G>T(human) RGD PMID:19626461 RGD:9589082 NCBI chr 3:149,131,541...149,170,061
Ensembl chr 3:149,131,785...149,208,786
JBrowse link
G Erbb3 erb-b2 receptor tyrosine kinase 3 severity ISO RGD PMID:16507107 RGD:126781766 NCBI chr 7:2,989,202...3,010,610
Ensembl chr 7:2,989,340...3,010,350
JBrowse link
G Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit disease_progression ISO DNA:SNP: rs3757441 (human) RGD PMID:21926398 RGD:126779594 NCBI chr 4:77,284,404...77,347,011
Ensembl chr 4:77,284,404...77,347,011
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 Gata6 GATA binding protein 6 severity ISO human cells in a mouse model RGD PMID:24452072 RGD:13208874 NCBI chr18:2,415,821...2,447,087
Ensembl chr18:2,416,552...2,446,338
JBrowse link
G Gsk3b glycogen synthase kinase 3 beta ISO RGD PMID:21609933 RGD:13210767 NCBI chr11:65,060,884...65,208,842
Ensembl chr11:65,066,235...65,209,268
JBrowse link
G Gstm1 glutathione S-transferase mu 1 ISO RGD PMID:12421502 RGD:14700996 NCBI chr 2:210,803,869...210,809,461
Ensembl chr 2:210,803,869...210,809,306
JBrowse link
G Gstt1 glutathione S-transferase theta 1 onset ISO RGD PMID:12421502, PMID:12682546 RGD:14700996, RGD:14701003 NCBI chr20:13,799,102...13,816,527
Ensembl chr20:13,799,102...13,816,526
JBrowse link
G Hpca hippocalcin severity ISO mRNA, protein:increased expression:colon carcinoma (human) RGD PMID:22696308 RGD:9693683 NCBI chr 5:147,295,124...147,305,757
Ensembl chr 5:147,294,820...147,303,346
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 Kcnh1 potassium voltage-gated channel subfamily H member 1 severity ISO DNA:amplification: (human) RGD PMID:17289873 RGD:9693694 NCBI chr13:110,920,712...111,232,291
Ensembl chr13:110,920,737...111,232,269
JBrowse link
G Kdr kinase insert domain receptor treatment
severity
ISO protein:altered phosphorylation:colon RGD PMID:26325365, PMID:25372416 RGD:11529678, RGD:126848811 NCBI chr14:34,727,677...34,787,127
Ensembl chr14:34,727,623...34,787,183
JBrowse link
G Kmt2b lysine methyltransferase 2B ISO human gene in a mouse model RGD PMID:22713656 RGD:9588601 NCBI chr 1:89,022,889...89,042,176
Ensembl chr 1:89,023,200...89,042,176
JBrowse link
G Mapk1 mitogen activated protein kinase 1 treatment ISO RGD PMID:25405740 RGD:13210782 NCBI chr11:88,203,863...88,273,301
Ensembl chr11:88,211,599...88,273,254
JBrowse link
G Mapk3 mitogen activated protein kinase 3 treatment ISO RGD PMID:25405740 RGD:13210782 NCBI chr 1:198,192,773...198,198,975
Ensembl chr 1:198,192,773...198,198,975
JBrowse link
G Mapk8 mitogen-activated protein kinase 8 ISO RGD PMID:21122381 RGD:13217408 NCBI chr16:9,620,854...9,709,342
Ensembl chr16:9,625,177...9,709,347
JBrowse link
G Msh2 mutS homolog 2 disease_progression ISO RGD PMID:11604476 RGD:126790556 NCBI chr 6:11,215,951...11,274,916
Ensembl chr 6:11,215,963...11,274,932
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 Runx1 RUNX family transcription factor 1 ISO mRNA:increased expression:colon RGD PMID:29747153 RGD:126779566 NCBI chr11:32,765,147...33,003,061
Ensembl chr11:32,769,165...33,003,021
JBrowse link
G Tp53 tumor protein p53 ISO RGD PMID:8264230 RGD:13210753 NCBI chr10:56,186,299...56,198,449
Ensembl chr10:56,187,020...56,198,449
JBrowse link
G Tyms thymidylate synthetase IEP protein:increased activity:colon (rat) RGD PMID:10226549 RGD:2317418 NCBI chr 9:121,918,875...121,931,564
Ensembl chr 9:121,918,947...121,931,564
JBrowse link
G Utp23 UTP23, small subunit processome component susceptibility ISO DNA:missense mutation:cds:p.P215Q (rs16888728) (human) RGD PMID:26553438 RGD:11041896 NCBI chr 7:91,384,329...91,389,605
Ensembl chr 7:91,384,187...91,389,598
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 chr15:4,254,470...4,281,296
Ensembl chr15:4,254,499...4,281,287
JBrowse link
G Apc APC regulator of WNT signaling pathway IMP
ISO
associated with Adenomatous Polyposis Coli;DNA:point mutation:CDS:p.K1137X (3409A>T) (rat)
ClinVar Annotator: match by term: Adenocarcinoma of the colon
ClinVar PMID:24033266 PMID:24728327 PMID:25741868 PMID:27978560 PMID:28492532, PMID:17360473 RGD:1601201 NCBI chr18:27,011,710...27,106,323
Ensembl chr18:27,047,382...27,105,531
JBrowse link
G ApcPirc APC, WNT signaling pathway regulator; polyposis in the rat colon IMP associated with Adenomatous Polyposis Coli RGD PMID:17360473 RGD:1601201
G Arid1a AT-rich interaction domain 1A disease_progression ISO protein:decreased expression:colorectum (human) RGD PMID:26980037 RGD:126790569 NCBI chr 5:151,904,687...151,977,973
Ensembl chr 5:151,904,684...151,977,636
JBrowse link
G Bax BCL2 associated X, apoptosis regulator susceptibility ISO DNA:frameshift mutation: ; RGD PMID:9020077 RGD:734633 NCBI chr 1:101,451,801...101,457,207
Ensembl chr 1:101,451,802...101,457,207
JBrowse link
G Bcl2 BCL2, apoptosis regulator treatment ISO human cells in mouse model RGD PMID:32504672 RGD:125097526 NCBI chr13:26,605,426...26,769,374
Ensembl chr13:26,605,426...26,769,374
JBrowse link
G Csf2 colony stimulating factor 2 treatment ISO RGD PMID:10830715 RGD:10450245 NCBI chr10:39,602,089...39,604,070
Ensembl chr10:39,602,089...39,604,070
JBrowse link
G Ctnnb1 catenin beta 1 IAGP DNA:mutation RGD PMID:16886601 RGD:1599637 NCBI chr 8:129,601,511...129,628,378
Ensembl chr 8:129,617,812...129,627,372
JBrowse link
G Daxx death-domain associated protein ISO protein:decreased expression:colon: RGD PMID:16569639 RGD:9587838 NCBI chr20:5,480,103...5,485,962
Ensembl chr20:5,480,103...5,485,926
JBrowse link
G Fech ferrochelatase ISO mRNA:decreased expression:colon RGD PMID:28075030 RGD:14700888 NCBI chr18:59,941,992...59,975,192
Ensembl chr18:59,941,992...59,975,192
JBrowse link
G Hmgb1 high mobility group box 1 IEP RGD PMID:20616616 RGD:10402080 NCBI chr12:7,082,529...7,090,246
Ensembl chr16:37,500,017...37,502,237
JBrowse link
G Jak2 Janus kinase 2 treatment ISO Human cell in mouse model RGD PMID:32504672 RGD:125097526 NCBI chr 1:247,398,667...247,457,521
Ensembl chr 1:247,398,598...247,458,509
JBrowse link
G Mapk1 mitogen activated protein kinase 1 ISO RGD PMID:24691442 RGD:13210775 NCBI chr11:88,203,863...88,273,301
Ensembl chr11:88,211,599...88,273,254
JBrowse link
G Mapk3 mitogen activated protein kinase 3 ISO RGD PMID:24691442 RGD:13210775 NCBI chr 1:198,192,773...198,198,975
Ensembl chr 1:198,192,773...198,198,975
JBrowse link
G Mgmt O-6-methylguanine-DNA methyltransferase IEP mRNA:decreased expression:colon (rat) RGD PMID:16886601 RGD:1599637 NCBI chr 1:209,237,255...209,464,189
Ensembl chr 1:209,237,233...209,464,190
JBrowse link
G Mir155 microRNA 155 treatment ISO RGD PMID:29535520 RGD:21409754 NCBI chr11:24,176,603...24,176,667
Ensembl chr11:24,176,603...24,176,667
JBrowse link
G Msh6 mutS homolog 6 ISO ClinVar Annotator: match by term: Adenocarcinoma of the colon ClinVar PMID:25741868 NCBI chr 6:11,644,565...11,662,389
Ensembl chr 6:11,644,578...11,662,499
JBrowse link
G Pcsk5 proprotein convertase subtilisin/kexin type 5 ISO mRNA:decreased expression:colon: RGD PMID:19737405 RGD:11556207 NCBI chr 1:236,031,988...236,313,858
Ensembl chr 1:236,031,988...236,313,858
JBrowse link
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha ISO DNA:mutation RGD PMID:17575153 RGD:5685670 NCBI chr 2:118,831,350...118,861,456
Ensembl chr 2:118,831,350...118,861,454
JBrowse link
G Pik3r3 phosphoinositide-3-kinase regulatory subunit 3 treatment ISO RGD PMID:24632606 RGD:13432053 NCBI chr 5:135,069,972...135,145,633
Ensembl chr 5:135,074,297...135,142,488
JBrowse link
G Rac1 Rac family small GTPase 1 treatment ISO mRNA:alternative form RGD PMID:10597294, PMID:19561401 RGD:13432049, RGD:13432051 NCBI chr12:13,090,316...13,111,841
Ensembl chr12:13,090,172...13,111,873
JBrowse link
G Rad54l RAD54 like ISO ClinVar Annotator: match by synonym: Colonic adenocarcinoma ClinVar PMID:10362365 NCBI chr 5:134,948,511...134,978,125
Ensembl chr 5:134,948,512...134,978,125
JBrowse link
G Rnasel ribonuclease L severity ISO RGD PMID:23567782 RGD:40902808 NCBI chr13:71,188,712...71,202,636
Ensembl chr13:71,192,142...71,202,625
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 5:150,032,999...150,060,769
Ensembl chr 5:150,032,999...150,060,765
JBrowse link
G Srsf5 serine and arginine rich splicing factor 5 ISO mRNA:decreased expression:colon mucosa (human) RGD PMID:9865741 RGD:11039405 NCBI chr 6:104,611,026...104,640,033
Ensembl chr 6:104,611,026...104,615,302
JBrowse link
G Srsf6 serine and arginine rich splicing factor 6 ISO mRNA:decreased expression:colon mucosa (human) RGD PMID:9865741 RGD:11039405 NCBI chr 3:159,305,345...159,310,668
Ensembl chr 3:159,305,345...159,310,668
JBrowse link
G Stat3 signal transducer and activator of transcription 3 treatment ISO human cells in mouse model RGD PMID:32504672 RGD:125097526 NCBI chr10:88,790,401...88,842,263
Ensembl chr10:88,790,408...88,842,233
JBrowse link
G Tert telomerase reverse transcriptase treatment ISO RGD PMID:19903903 RGD:11038656 NCBI chr 1:32,250,876...32,275,330
Ensembl chr 1:32,251,714...32,272,476
JBrowse link
G Tgfb1 transforming growth factor, beta 1 disease_progression ISO RGD PMID:9019169 RGD:13432089 NCBI chr 1:82,480,875...82,497,196
Ensembl chr 1:82,480,195...82,497,199
JBrowse link
G Vegfc vascular endothelial growth factor C IEP mRNA:increased expression:colon RGD PMID:18424890 RGD:2315488 NCBI chr16:40,440,371...40,555,178
Ensembl chr16:40,440,207...40,555,576
JBrowse link
colon signet ring adenocarcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Runx1 RUNX family transcription factor 1 ISO mRNA:increased expression:colon RGD PMID:29747153 RGD:126779566 NCBI chr11:32,765,147...33,003,061
Ensembl chr11:32,769,165...33,003,021
JBrowse link
rectum adenocarcinoma 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: Rectal Adenocarcinoma ClinVar PMID:24033266 PMID:25741868 PMID:26530882 PMID:28195569 PMID:28492532 PMID:30111351 PMID:30833958 NCBI chr18:27,011,710...27,106,323
Ensembl chr18:27,047,382...27,105,531
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17129
    disease of cellular proliferation 6944
      cancer 4896
        cell type cancer 3391
          carcinoma 2910
            colorectal carcinoma 84
              colorectal adenocarcinoma 59
                colon adenocarcinoma + 31
                rectum adenocarcinoma + 1
Path 2
Term Annotations click to browse term
  disease 17129
    disease of anatomical entity 16476
      gastrointestinal system disease 6054
        Gastrointestinal Diseases 4138
          Gastrointestinal Neoplasms 3297
            Intestinal Neoplasms 1514
              intestinal cancer 747
                large intestine cancer 744
                  colorectal cancer 744
                    colorectal carcinoma 84
                      colorectal adenocarcinoma 59
                        colon adenocarcinoma + 31
                        rectum adenocarcinoma + 1
paths to the root