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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 carcinoma
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Accession:DOID:0080199 term browser browse the term
Definition:A colorectal cancer that arises from the colon or rectum and invades through the muscularis mucosa into the submucosa. (DO)
Synonyms:exact_synonym: colorectal carcinomas
 xref: NCI:C2955
For additional species annotation, visit the Alliance of Genome Resources.


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colorectal carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actr2 actin related protein 2 severity ISO protein:increased expression:colonic mucosa (human) RGD PMID:14990971 RGD:11570560 NCBI chr14:94,296,443...94,333,735 JBrowse link
G Actr3 actin related protein 3 severity ISO protein:increased expression:colonic mucosa (human) RGD PMID:14990971 RGD:11570560 NCBI chr13:36,800,739...36,843,837 JBrowse link
G Ager advanced glycosylation end product-specific receptor treatment IEP RGD PMID:22467055 RGD:7245559 NCBI chr20:4,148,150...4,151,361 JBrowse link
G Akap12 A-kinase anchoring protein 12 treatment ISO RGD PMID:21918680 RGD:14348959 NCBI chr 1:40,730,123...40,819,863 JBrowse link
G Antxr1 ANTXR cell adhesion molecule 1 treatment ISO RGD PMID:19528090 RGD:9684940 NCBI chr 4:119,590,770...119,778,232 JBrowse link
G Arid1a AT-rich interaction domain 1A onset ISO protein:decreased expression:colorectum (human) RGD PMID:24925223 RGD:126790632 NCBI chr 5:145,908,181...145,981,609 JBrowse link
G Bmi1 BMI1 proto-oncogene, polycomb ring finger ISO RGD PMID:14732230 RGD:1580058 NCBI chr17:81,332,175...81,341,625 JBrowse link
G Brca1 BRCA1, DNA repair associated ISO RGD PMID:11497291 RGD:126925969 NCBI chr10:86,417,441...86,477,762 JBrowse link
G Brca2 BRCA2, DNA repair associated ISO RGD PMID:11497291 RGD:126925969 NCBI chr12:59,492...103,789 JBrowse link
G Brd7 bromodomain containing 7 severity ISO mRNA,protein:decreased expression:colon: RGD PMID:23215825 RGD:9586444 NCBI chr19:18,708,792...18,737,500 JBrowse link
G Calu calumenin ISO mRNA:increased expression:colon (human) RGD PMID:18776587 RGD:2316232 NCBI chr 4:57,949,086...57,976,589 JBrowse link
G Cat catalase treatment IEP RGD PMID:29229353 RGD:127284843 NCBI chr 3:89,842,393...89,874,577 JBrowse link
G Cbx7 chromobox 7 disease_progression ISO mRNA:decreased expression::colorectum: RGD PMID:22041561 RGD:9587355 NCBI chr 7:111,460,656...111,479,231 JBrowse link
G Cd59 CD59 molecule IMP RGD PMID:12909127 RGD:1600485 NCBI chr 3:90,459,085...90,477,571 JBrowse link
G Chi3l1 chitinase 3 like 1 severity ISO protein:increased secretion:serum (human) RGD PMID:12124825 RGD:4892637 NCBI chr13:45,641,802...45,649,787 JBrowse link
G Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit ISO protein:increased expression:large intestine RGD PMID:30214616 RGD:126779593 NCBI chr 4:76,624,399...76,687,362 JBrowse link
G Gstm1 glutathione S-transferase mu 1 ISO RGD PMID:26909940, PMID:16886896 RGD:11564625, RGD:14700936 NCBI chr 2:195,649,845...195,655,402 JBrowse link
G Gstt1 glutathione S-transferase theta 1 ISO RGD PMID:16886896 RGD:14700936 NCBI chr20:12,856,613...12,873,586 JBrowse link
G Hnrnpm heterogeneous nuclear ribonucleoprotein M disease_progression ISO protein:increased expression:colonic epithelium (human) RGD PMID:24381081 RGD:10054273 NCBI chr 7:14,438,703...14,476,781 JBrowse link
G Il2 interleukin 2 treatment IEP RGD PMID:29229353 RGD:127284843 NCBI chr 2:120,004,862...120,009,566 JBrowse link
G Il6 interleukin 6 treatment IEP RGD PMID:29229353 RGD:127284843 NCBI chr 4:5,214,602...5,219,178 JBrowse link
G Itgb3 integrin subunit beta 3 severity ISO RGD PMID:11299820 RGD:5112894 NCBI chr10:89,509,917...89,564,679 JBrowse link
G Jak2 Janus kinase 2 treatment IEP RGD PMID:29229353 RGD:127284843 NCBI chr 1:226,995,334...227,054,381 JBrowse link
G Mbd4 methyl-CpG binding domain 4 DNA glycosylase ISO DNA:insertion, deletion:exon:c.939_940insA, c.939delA (human) RGD PMID:10637515 RGD:9588975 NCBI chr 4:148,893,049...148,904,833 JBrowse link
G Mir152 microRNA 152 ISO DNA:hypermethylation RGD PMID:21327300 RGD:21066329 NCBI chr10:81,832,936...81,833,020 JBrowse link
G Msh3 mutS homolog 3 ISO RGD PMID:9401011 RGD:1625103 NCBI chr 2:23,444,326...23,585,777 JBrowse link
G Msh6 mutS homolog 6 ISO RGD PMID:9401011 RGD:1625103 NCBI chr 6:6,562,631...6,579,995 JBrowse link
G Mt-co2 mitochondrially encoded cytochrome c oxidase II treatment IEP RGD PMID:29229353 RGD:127284843
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha severity ISO DNA:mutations:exons: RGD PMID:17546593 RGD:14402406 NCBI chr 2:115,175,275...115,249,034 JBrowse link
G Psmb9 proteasome 20S subunit beta 9 ISO protein: decreased expression RGD PMID:14750179 RGD:6483362 NCBI chr20:4,667,044...4,672,512 JBrowse link
G Smad4 SMAD family member 4 disease_progression ISO RGD PMID:26861460 RGD:21066335 NCBI chr18:67,243,742...67,274,438 JBrowse link
G Stat3 signal transducer and activator of transcription 3 treatment IEP RGD PMID:29229353 RGD:127284843 NCBI chr10:85,811,206...85,863,057 JBrowse link
G Strap serine/threonine kinase receptor associated protein ISO RGD PMID:16778189 RGD:1581429 NCBI chr 4:170,646,042...170,660,291 JBrowse link
G Tp53 tumor protein p53 ISO DNA:missense mutation::p.R72P (human) RGD PMID:29560751 RGD:14995498 NCBI chr10:54,300,070...54,311,525 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 chr15:3,821,798...3,849,659 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 chr18:25,828,558...25,925,511 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 5:145,908,181...145,981,609 JBrowse link
G Bax BCL2 associated X, apoptosis regulator susceptibility ISO DNA:frameshift mutation: ; RGD PMID:9020077 RGD:734633 NCBI chr 1:95,940,001...95,945,407 JBrowse link
G Bcl2 BCL2, apoptosis regulator treatment ISO human cells in mouse model RGD PMID:32504672 RGD:125097526 NCBI chr13:22,689,783...22,853,920 JBrowse link
G Csf2 colony stimulating factor 2 treatment ISO RGD PMID:10830715 RGD:10450245 NCBI chr10:38,386,945...38,388,926 JBrowse link
G Ctnnb1 catenin beta 1 IAGP DNA:mutation RGD PMID:16886601 RGD:1599637 NCBI chr 8:120,640,008...120,667,110 JBrowse link
G Daxx death-domain associated protein ISO protein:decreased expression:colon: RGD PMID:16569639 RGD:9587838 NCBI chr20:4,970,090...4,976,145 JBrowse link
G Fech ferrochelatase ISO mRNA:decreased expression:colon RGD PMID:28075030 RGD:14700888 NCBI chr18:57,945,123...57,978,327 JBrowse link
G Gata1 GATA binding protein 1 ISO RGD PMID:31069596 RGD:149735196 NCBI chr  X:14,529,706...14,537,530 JBrowse link
G Hmgb1 high mobility group box 1 IEP RGD PMID:20616616 RGD:10402080 NCBI chr12:5,973,062...5,978,565 JBrowse link
G Il21 interleukin 21 treatment ISO RGD PMID:17695518 RGD:127285540 NCBI chr 2:120,119,598...120,126,941 JBrowse link
G Jak2 Janus kinase 2 treatment
ameliorates
ISO Human cell in mouse model
human cells in mouse model
RGD PMID:32504672, PMID:22050790 RGD:125097526, RGD:127285665 NCBI chr 1:226,995,334...227,054,381 JBrowse link
G Mapk1 mitogen activated protein kinase 1 ISO RGD PMID:24691442 RGD:13210775 NCBI chr11:83,957,813...84,023,629 JBrowse link
G Mapk3 mitogen activated protein kinase 3 ISO RGD PMID:24691442 RGD:13210775 NCBI chr 1:181,366,646...181,372,863 JBrowse link
G Mgmt O-6-methylguanine-DNA methyltransferase IEP mRNA:decreased expression:colon (rat) RGD PMID:16886601 RGD:1599637 NCBI chr 1:191,710,980...191,937,760 JBrowse link
G Mir155 microRNA 155 treatment ISO RGD PMID:29535520 RGD:21409754 NCBI chr11:23,774,654...23,774,718 JBrowse link
G Msh6 mutS homolog 6 ISO ClinVar Annotator: match by term: Adenocarcinoma of the colon ClinVar PMID:25741868 NCBI chr 6:6,562,631...6,579,995 JBrowse link
G Pcsk5 proprotein convertase subtilisin/kexin type 5 ISO mRNA:decreased expression:colon: RGD PMID:19737405 RGD:11556207 NCBI chr 1:214,837,847...215,267,626 JBrowse link
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha ISO DNA:mutation RGD PMID:17575153 RGD:5685670 NCBI chr 2:115,175,275...115,249,034 JBrowse link
G Pik3r3 phosphoinositide-3-kinase regulatory subunit 3 treatment ISO RGD PMID:24632606 RGD:13432053 NCBI chr 5:129,700,925...129,772,591 JBrowse link
G Rac1 Rac family small GTPase 1 treatment ISO mRNA:alternative form RGD PMID:10597294, PMID:19561401 RGD:13432049, RGD:13432051 NCBI chr12:11,037,028...11,057,251 JBrowse link
G Rad54l RAD54 like ISO ClinVar Annotator: match by synonym: Colonic adenocarcinoma ClinVar PMID:10362365 NCBI chr 5:129,575,431...129,605,100 JBrowse link
G Rnasel ribonuclease L severity ISO RGD PMID:23567782 RGD:40902808 NCBI chr13:65,894,990...65,910,354 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 5:144,060,981...144,090,798 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 6:100,605,165...100,610,192 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 3:151,589,546...151,594,869 JBrowse link
G Stat3 signal transducer and activator of transcription 3 treatment ISO human cells in mouse model RGD PMID:32504672 RGD:125097526 NCBI chr10:85,811,206...85,863,057 JBrowse link
G Tert telomerase reverse transcriptase treatment ISO RGD PMID:19903903 RGD:11038656 NCBI chr 1:29,637,213...29,659,509 JBrowse link
G Tgfb1 transforming growth factor, beta 1 disease_progression ISO RGD PMID:9019169 RGD:13432089 NCBI chr 1:81,196,532...81,212,848 JBrowse link
G Vegfc vascular endothelial growth factor C IEP mRNA:increased expression:colon RGD PMID:18424890 RGD:2315488 NCBI chr16:37,712,408...37,827,657 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 chr11:31,839,880...32,074,427 JBrowse link
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 4:25,357,467...25,529,941 JBrowse link
G Abcb1b ATP-binding cassette, subfamily B (MDR/TAP), member 1B IDA RGD PMID:16619498 RGD:1598563 NCBI chr 4:25,242,761...25,325,194 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 9:75,820,782...75,851,471 JBrowse link
G Bcl2l1 Bcl2-like 1 ISO protein:increased expression:colonic mucosa (human) RGD PMID:8625322 RGD:11353854 NCBI chr 3:141,253,508...141,304,582 JBrowse link
G Bcl2l2 Bcl2-like 2 disease_progression ISO RGD PMID:10638987 RGD:14394422 NCBI chr15:28,346,449...28,361,627 JBrowse link
G Birc7 baculoviral IAP repeat-containing 7 ISO RGD PMID:21122381 RGD:13217408 NCBI chr 3:168,047,824...168,052,606 JBrowse link
G Braf B-Raf proto-oncogene, serine/threonine kinase disease_progression ISO RGD PMID:24500602 RGD:11567230 NCBI chr 4:68,375,484...68,510,652 JBrowse link
G Brd8 bromodomain containing 8 disease_progression IEP RGD PMID:19787264 RGD:9587763 NCBI chr18:26,181,744...26,230,035 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 3:89,155,850...89,244,615 JBrowse link
G Dnmt3b DNA methyltransferase 3 beta susceptibility ISO DNA:SNP: : 39179G>T(human) RGD PMID:19626461 RGD:9589082 NCBI chr 3:142,130,592...142,169,124 JBrowse link
G Erbb3 erb-b2 receptor tyrosine kinase 3 severity ISO RGD PMID:16507107 RGD:126781766 NCBI chr 7:994,549...1,015,876 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 4:76,624,399...76,687,362 JBrowse link
G Flt3 Fms related receptor tyrosine kinase 3 severity ISO DNA:polymorphisms:multiple RGD PMID:33075166 RGD:149735513 NCBI chr12:7,623,658...7,699,474 JBrowse link
G Fos Fos proto-oncogene, AP-1 transcription factor subunit ISO RGD PMID:8264230 RGD:13210753 NCBI chr 6:105,121,170...105,124,036 JBrowse link
G Gata6 GATA binding protein 6 severity ISO human cells in a mouse model RGD PMID:24452072 RGD:13208874 NCBI chr18:2,188,121...2,219,532 JBrowse link
G Gsk3b glycogen synthase kinase 3 beta ISO RGD PMID:21609933 RGD:13210767 NCBI chr11:62,498,997...62,648,665 JBrowse link
G Gstm1 glutathione S-transferase mu 1 ISO RGD PMID:12421502 RGD:14700996 NCBI chr 2:195,649,845...195,655,402 JBrowse link
G Gstt1 glutathione S-transferase theta 1 onset ISO RGD PMID:12421502, PMID:12682546 RGD:14700996, RGD:14701003 NCBI chr20:12,856,613...12,873,586 JBrowse link
G Hpca hippocalcin severity ISO mRNA, protein:increased expression:colon carcinoma (human) RGD PMID:22696308 RGD:9693683 NCBI chr 5:141,455,616...141,466,252 JBrowse link
G Jun Jun proto-oncogene, AP-1 transcription factor subunit ISO RGD PMID:8264230 RGD:13210753 NCBI chr 5:109,894,175...109,897,268 JBrowse link
G Kcnh1 potassium voltage-gated channel subfamily H member 1 severity ISO DNA:amplification: (human) RGD PMID:17289873 RGD:9693694 NCBI chr13:103,722,140...104,024,762 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 chr14:32,217,871...32,261,018 JBrowse link
G Kmt2b lysine methyltransferase 2B ISO human gene in a mouse model RGD PMID:22713656 RGD:9588601 NCBI chr 1:85,821,700...85,840,987 JBrowse link
G Mapk1 mitogen activated protein kinase 1 treatment ISO RGD PMID:25405740 RGD:13210782 NCBI chr11:83,957,813...84,023,629 JBrowse link
G Mapk3 mitogen activated protein kinase 3 treatment ISO RGD PMID:25405740 RGD:13210782 NCBI chr 1:181,366,646...181,372,863 JBrowse link
G Mapk8 mitogen-activated protein kinase 8 ISO RGD PMID:21122381 RGD:13217408 NCBI chr16:8,638,897...8,721,960 JBrowse link
G Msh2 mutS homolog 2 disease_progression ISO RGD PMID:11604476 RGD:126790556 NCBI chr 6:6,813,793...6,872,960 JBrowse link
G Raf1 Raf-1 proto-oncogene, serine/threonine kinase ISO RGD PMID:21122381 RGD:13217408 NCBI chr 4:148,679,534...148,740,265 JBrowse link
G Runx1 RUNX family transcription factor 1 ISO mRNA:increased expression:colon RGD PMID:29747153 RGD:126779566 NCBI chr11:31,839,880...32,074,427 JBrowse link
G Smarcb1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 disease_progression ISO protein:decreased expression:colon, nucleus RGD PMID:27184481 RGD:127285648 NCBI chr20:12,741,164...12,763,616 JBrowse link
G Tp53 tumor protein p53 ISO RGD PMID:8264230 RGD:13210753 NCBI chr10:54,300,070...54,311,525 JBrowse link
G Tyms thymidylate synthetase IEP protein:increased activity:colon (rat) RGD PMID:10226549 RGD:2317418 NCBI chr 9:113,313,454...113,329,551 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 7:83,185,187...83,196,652 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 chr18:25,828,558...25,925,511 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17160
    disease of cellular proliferation 6949
      Neoplasms by Histologic Type 4766
        Glandular and Epithelial Neoplasms 3427
          carcinoma 2914
            colorectal carcinoma 88
              colorectal adenocarcinoma + 63
Path 2
Term Annotations click to browse term
  disease 17160
    disease of anatomical entity 16500
      gastrointestinal system disease 6063
        Gastrointestinal Diseases 4147
          intestinal disease 2441
            Intestinal Neoplasms 1518
              intestinal cancer 752
                large intestine cancer 749
                  colorectal cancer 749
                    colorectal carcinoma 88
                      colorectal adenocarcinoma + 63
paths to the root