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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:large intestine adenocarcinoma
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Accession:DOID:0050913 term browser browse the term
Definition:A large intestine cancer that has_material_basis_in epithelial cells of glandular origin. (DO)
Synonyms:xref: EFO:0000365


show annotations for term's descendants           Sort by:
colon adenocarcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abhd5 abhydrolase domain containing 5, lysophosphatidic acid acyltransferase disease_progression ISO human cells in mouse model
mRNA:decreased expression:colon (human)		 RGD PMID:30842415 PMID:30842415 RGD:153002829, RGD:153002829 NCBI chr 8:122,000,241...122,026,447
Ensembl chr 8:122,000,389...122,026,447 		JBrowse link
G Anxa7 annexin A7 ISO protein:decreased expression:colon RGD PMID:17708571 RGD:2292654 NCBI chr15:3,821,798...3,849,659
Ensembl chr15:3,821,845...3,849,385 		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: Colon adenocarcinoma		 ClinVar
RGD		 PMID:24033266 PMID:24728327 PMID:25741868 PMID:27978560 PMID:28492532 More... RGD:1601201 NCBI chr18:25,828,558...25,925,511
Ensembl chr18:25,864,222...25,922,696 		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 5:145,908,173...145,981,552
Ensembl chr 5:145,908,181...145,985,564 		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
Ensembl chr 1:95,938,808...95,945,368 		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
Ensembl chr13:22,684,989...22,853,743
Ensembl chr13:22,684,989...22,853,743 		JBrowse link
G Btk Bruton tyrosine kinase ISO mRNA:decreased expression:colon (human) RGD PMID:31402962 RGD:151347853 NCBI chr  X:97,722,796...97,762,315
Ensembl chr  X:97,722,802...97,761,853 		JBrowse link
G Cacna1d calcium voltage-gated channel subunit alpha1 D disease_progression ISO protein:increased expression:colon (human) RGD PMID:29079724 RGD:152177516 NCBI chr16:5,227,157...5,521,163
Ensembl chr16:5,228,306...5,668,215 		JBrowse link
G Calr calreticulin ISO RGD PMID:18812201 RGD:150521683 NCBI chr19:23,308,525...23,313,420
Ensembl chr19:23,308,351...23,313,414 		JBrowse link
G Car12 carbonic anhydrase 12 disease_progression ISO RGD PMID:35847888 RGD:153352327 NCBI chr 8:67,274,739...67,330,428
Ensembl chr 8:67,274,359...67,330,440 		JBrowse link
G Chd4 chromodomain helicase DNA binding protein 4 ameliorates ISO human cells in a mouse model RGD PMID:28486105 RGD:153323299 NCBI chr 4:157,898,503...157,931,632
Ensembl chr 4:157,899,391...157,931,541 		JBrowse link
G Csf1r colony stimulating factor 1 receptor ameliorates ISO mouse cell line in a mouse model
human cells in a mouse model		 RGD PMID:29436396 PMID:24898549 PMID:32304779 RGD:150524289, RGD:150524303, RGD:150524290 NCBI chr18:54,546,673...54,590,418
Ensembl chr18:54,546,659...54,590,415 		JBrowse link
G Csf2 colony stimulating factor 2 treatment ISO RGD PMID:10830715 RGD:10450245 NCBI chr10:38,386,945...38,388,926
Ensembl chr10:38,386,945...38,389,199 		JBrowse link
G Ctnnb1 catenin beta 1 IAGP DNA:mutation RGD PMID:16886601 RGD:1599637 NCBI chr 8:120,640,008...120,667,110
Ensembl chr 8:120,639,995...120,667,111 		JBrowse link
G Cyp24a1 cytochrome P450, family 24, subfamily a, polypeptide 1 ISO mRNA:increased expression:colonic mucosa (human) RGD PMID:27793774 RGD:151665173 NCBI chr 3:159,275,947...159,290,383
Ensembl chr 3:159,275,947...159,290,383 		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
Ensembl chr20:4,970,092...4,975,843 		JBrowse link
G Eef2 eukaryotic translation elongation factor 2 ISO protein:increased expression:colon(human) RGD PMID:19360331 RGD:153298969 NCBI chr 7:8,533,248...8,538,518
Ensembl chr 7:8,533,116...8,559,183 		JBrowse link
G Fech ferrochelatase ISO mRNA:decreased expression:colon RGD PMID:28075030 RGD:14700888 NCBI chr18:57,945,123...57,978,327
Ensembl chr18:57,945,122...57,979,348 		JBrowse link
G Fosl1 FOS like 1, AP-1 transcription factor subunit ISO protein:increased expression:colon (human) RGD PMID:22419013 RGD:153344572 NCBI chr 1:202,754,549...202,763,057
Ensembl chr 1:202,754,529...202,764,930 		JBrowse link
G Fosl2 FOS like 2, AP-1 transcription factor subunit ISO protein:increased expression:colon (human) RGD PMID:22419013 RGD:153344572 NCBI chr 6:24,297,898...24,319,219
Ensembl chr 6:24,300,956...24,320,034 		JBrowse link
G Foxa1 forkhead box A1 ISO mRNA:decreased expression:colon RGD PMID:32839292 RGD:151665753 NCBI chr 6:75,099,907...75,136,534
Ensembl chr 6:75,103,503...75,136,188 		JBrowse link
G Gata1 GATA binding protein 1 ISO RGD PMID:31069596 RGD:149735196 NCBI chr  X:14,529,706...14,537,530
Ensembl chr  X:14,529,702...14,537,530 		JBrowse link
G Hmgb1 high mobility group box 1 IEP RGD PMID:20616616 RGD:10402080 NCBI chr12:5,972,950...5,979,658
Ensembl chr12:5,901,586...5,978,565
Ensembl chr16:5,901,586...5,978,565 		JBrowse link
G Il21 interleukin 21 treatment ISO RGD PMID:17695518 RGD:127285540 NCBI chr 2:120,117,105...120,127,012
Ensembl chr 2:120,119,444...120,126,996 		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
Ensembl chr 1:226,995,334...227,054,189 		JBrowse link
G Kdm6a lysine demethylase 6A ISO DNA:hypermethylation RGD PMID:33174323 RGD:150429730 NCBI chr  X:4,337,466...4,477,100
Ensembl chr  X:4,337,750...4,477,062 		JBrowse link
G Lox lysyl oxidase ameliorates ISO RGD PMID:21282564 RGD:150520218 NCBI chr18:45,964,544...45,977,431
Ensembl chr18:45,967,343...46,041,477 		JBrowse link
G Map2k7 mitogen activated protein kinase kinase 7 ISO human cell line and gene in a mouse model RGD PMID:18436711 RGD:155630593 NCBI chr12:2,591,312...2,600,534
Ensembl chr12:2,591,219...2,604,222 		JBrowse link
G Mapk1 mitogen activated protein kinase 1 ISO RGD PMID:24691442 RGD:13210775 NCBI chr11:83,957,813...84,023,629
Ensembl chr11:83,957,813...84,023,616 		JBrowse link
G Mapk3 mitogen activated protein kinase 3 ISO RGD PMID:24691442 RGD:13210775 NCBI chr 1:181,366,646...181,372,863
Ensembl chr 1:181,366,637...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
Ensembl chr 1:191,710,930...191,937,756 		JBrowse link
G Mir155 microRNA 155 treatment ISO RGD PMID:29535520 RGD:21409754 NCBI chr11:23,774,654...23,774,718
Ensembl chr11:23,774,654...23,774,718 		JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO protein:increased expression:colon (human) RGD PMID:22419013 RGD:153344572 NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870 		JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO protein:increased expression:colon (human) RGD PMID:22419013 RGD:153344572 NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120 		JBrowse link
G Msh6 mutS homolog 6 ISO ClinVar Annotator: match by term: Colon adenocarcinoma ClinVar PMID:25741868 NCBI chr 6:6,562,631...6,579,995
Ensembl chr 6:6,562,632...6,579,956 		JBrowse link
G Myd88 MYD88, innate immune signal transduction adaptor exacerbates ISO human cell line in a mouse model RGD PMID:18538140 RGD:150521533 NCBI chr 8:119,074,439...119,078,508
Ensembl chr 8:119,074,437...119,079,415 		JBrowse link
G Naip6 NLR family, apoptosis inhibitory protein 6 exacerbates ISO mRNA:increased expression:colon (human) RGD PMID:31964418 RGD:153344516 NCBI chr 2:31,507,423...31,559,098
Ensembl chr 2:31,507,424...31,570,542 		JBrowse link
G Nos2 nitric oxide synthase 2 ISO protein:increased expression:colon (human) RGD PMID:22419013 RGD:153344572 NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210 		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
Ensembl chr 1:214,837,927...215,267,600 		JBrowse link
G Pfas phosphoribosylformylglycinamidine synthase ISO RGD PMID:6722784 RGD:5135276 NCBI chr10:53,690,301...53,711,811
Ensembl chr10:53,691,626...53,708,420 		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
Ensembl chr 2:115,174,984...115,249,032 		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
Ensembl chr 5:129,701,229...129,772,583 		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
Ensembl chr12:11,036,698...11,057,251 		JBrowse link
G Rad54l RAD54 like ISO ClinVar Annotator: match by term: Colon adenocarcinoma ClinVar PMID:10362365 NCBI chr 5:129,575,431...129,605,100
Ensembl chr 5:129,575,378...129,605,070 		JBrowse link
G Rnasel ribonuclease L severity ISO RGD PMID:23567782 RGD:40902808 NCBI chr13:65,894,990...65,910,354
Ensembl chr13:65,901,459...65,908,704 		JBrowse link
G Rnaset2 ribonuclease T2 ISO human cells in mouse model RGD PMID:30842415 RGD:153002829 NCBI chr 1:52,576,344...52,603,151
Ensembl chr 1:52,585,929...52,603,147 		JBrowse link
G Slc22a18 solute carrier family 22, member 18 ameliorates ISO mRNA:decreased expression:colorectum (human) RGD PMID:26196590 RGD:11522474 NCBI chr 1:198,670,626...198,694,977
Ensembl chr 1:198,671,731...198,694,975 		JBrowse link
G Smc2 structural maintenance of chromosomes 2 severity ISO human cell line in a mouse model RGD PMID:23095742 RGD:151356955 NCBI chr 5:66,806,882...66,853,478
Ensembl chr 5:66,807,011...66,853,242 		JBrowse link
G Src SRC proto-oncogene, non-receptor tyrosine kinase ameliorates ISO RGD PMID:21282564 RGD:150520218 NCBI chr 3:146,091,969...146,139,492
Ensembl chr 3:146,091,841...146,139,476 		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
Ensembl chr 5:144,061,463...144,089,229 		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
Ensembl chr 6:100,605,456...100,610,177 		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
Ensembl chr 3:151,589,535...151,594,860 		JBrowse link
G Stat1 signal transducer and activator of transcription 1 ISO DNA:SNPs:introns: (rs2280232, rs4327257) (human) RGD PMID:22121102 RGD:153323313 NCBI chr 9:49,419,561...49,459,969
Ensembl chr 9:49,419,340...49,588,540 		JBrowse link
G Stat3 signal transducer and activator of transcription 3 treatment ISO human cells in mouse model
DNA:SNPs:introns: (rs12949918, rs6503695) (human)		 RGD PMID:32504672 PMID:22121102 RGD:125097526, RGD:153323313 NCBI chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057 		JBrowse link
G Stat5a signal transducer and activator of transcription 5A ISO DNA:SNP:intron: (rs7217728) (human) RGD PMID:22121102 RGD:153323313 NCBI chr10:85,785,537...85,809,869
Ensembl chr10:85,785,537...85,809,866 		JBrowse link
G Stat5b signal transducer and activator of transcription 5B ISO DNA:SNPs:introns: (rs6503691, rs7218653) (human) RGD PMID:22121102 RGD:153323313 NCBI chr10:85,704,841...85,775,856
Ensembl chr10:85,705,670...85,775,668 		JBrowse link
G Stat6 signal transducer and activator of transcription 6 ISO DNA:SNP:3' utr: (rs324015) (human) RGD PMID:22121102 RGD:153323313 NCBI chr 7:63,480,229...63,497,551
Ensembl chr 7:63,479,642...63,498,495 		JBrowse link
G Tert telomerase reverse transcriptase treatment ISO RGD PMID:19903903 RGD:11038656 NCBI chr 1:29,637,213...29,659,561
Ensembl chr 1:29,637,506...29,659,561 		JBrowse link
G Tet2 tet methylcytosine dioxygenase 2 ISO mRNA:increased expression:colorectum, Cancer Stem-like Cells (human) RGD PMID:31057717 RGD:150429686 NCBI chr 2:221,988,645...222,072,813
Ensembl chr 2:221,988,645...222,072,534 		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
Ensembl chr 1:81,196,532...81,212,847 		JBrowse link
G Tp73 tumor protein p73 ISO mRNA:increased expression:colon (human) RGD PMID:30420492 RGD:151347580 NCBI chr 5:164,621,377...164,703,958
Ensembl chr 5:164,621,377...164,681,128 		JBrowse link
G Ubr5 ubiquitin protein ligase E3 component n-recognin 5 ameliorates
severity		 ISO human cell line in a mouse model RGD PMID:29296225 PMID:28856538 RGD:151665195, RGD:151665199 NCBI chr 7:69,115,216...69,224,843
Ensembl chr 7:69,116,761...69,224,903 		JBrowse link
G Vegfc vascular endothelial growth factor C IEP mRNA:increased expression:colon RGD PMID:18424890 RGD:2315488 NCBI chr16:37,712,251...37,827,845
Ensembl chr16:37,712,262...37,827,848 		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
Ensembl chr11:31,843,764...32,074,542 		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: Rectum adenocarcinoma ClinVar PMID:24033266 PMID:25741868 PMID:26530882 PMID:28195569 PMID:28492532 More... NCBI chr18:25,828,558...25,925,511
Ensembl chr18:25,864,222...25,922,696 		JBrowse link
G Birc2 baculoviral IAP repeat-containing 2 disease_progression ISO mRNA:increased expression:rectum (human) RGD PMID:31964418 RGD:153344516 NCBI chr 8:4,968,856...4,989,325
Ensembl chr 8:4,968,842...4,988,732 		JBrowse link
G Birc3 baculoviral IAP repeat-containing 3 ameliorates ISO mRNA:increased expression:rectum (human) RGD PMID:31964418 RGD:153344516 NCBI chr 8:5,000,844...5,028,470
Ensembl chr 8:5,000,845...5,015,802 		JBrowse link
G Chd4 chromodomain helicase DNA binding protein 4 ISO mRNA:increased expression:rectum (human) RGD PMID:28486105 RGD:153323299 NCBI chr 4:157,898,503...157,931,632
Ensembl chr 4:157,899,391...157,931,541 		JBrowse link
G Eef2 eukaryotic translation elongation factor 2 ISO protein:increased expression:rectum (human) RGD PMID:19360331 RGD:153298969 NCBI chr 7:8,533,248...8,538,518
Ensembl chr 7:8,533,116...8,559,183 		JBrowse link
G Kdm6a lysine demethylase 6A exacerbates ISO mRNA:decreased expression:rectum (human) RGD PMID:33174323 RGD:150429730 NCBI chr  X:4,337,466...4,477,100
Ensembl chr  X:4,337,750...4,477,062 		JBrowse link
G Slc7a5 solute carrier family 7 member 5 treatment ISO RGD PMID:21036745 RGD:151361202 NCBI chr19:49,935,220...49,963,823
Ensembl chr19:49,935,220...49,963,823 		JBrowse link
G Stat3 signal transducer and activator of transcription 3 ISO DNA:missense mutation:CDS: (rs2293152) (human) RGD PMID:22121102 RGD:153323313 NCBI chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057 		JBrowse link
G Stat4 signal transducer and activator of transcription 4 ISO DNA:SNP:intron: (rs3024861) (human) RGD PMID:22121102 RGD:153323313 NCBI chr 9:49,472,660...49,588,540
Ensembl chr 9:49,419,340...49,588,540 		JBrowse link
G Stat6 signal transducer and activator of transcription 6 ISO DNA:SNP:intron: (rs3024979) (human) RGD PMID:22121102 RGD:153323313 NCBI chr 7:63,480,229...63,497,551
Ensembl chr 7:63,479,642...63,498,495 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19137
    disease of cellular proliferation 7889
      Neoplasms by Histologic Type 5346
        cell type cancer 3783
          carcinoma 3273
            adenocarcinoma 1700
              large intestine adenocarcinoma 69
                anal canal adenocarcinoma + 0
                anus adenocarcinoma + 0
                cecum adenocarcinoma 0
                colon adenocarcinoma + 65
                rectum adenocarcinoma + 10
Path 2
Term Annotations click to browse term
  disease 19137
    disease of cellular proliferation 7889
      Neoplasms by Site 7331
        Digestive System Neoplasms 3849
          Gastrointestinal Neoplasms 3725
            Intestinal Neoplasms 1815
              intestinal cancer 1010
                large intestine cancer 1009
                  large intestine adenocarcinoma 69
                    anal canal adenocarcinoma + 0
                    anus adenocarcinoma + 0
                    cecum adenocarcinoma 0
                    colon adenocarcinoma + 65
                    rectum adenocarcinoma + 10
paths to the root