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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 adenocarcinoma
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Accession:DOID:234 term browser browse the term
Definition:A colon carcinoma that derives_from epithelial cells of glandular origin. (DO)
Synonyms:exact_synonym: adenocarcinoma of colon;   colonic adenocarcinoma
 related_synonym: adenocarcinoma of the colon
 xref: EFO:0000362;   EFO:1001949;   NCI:C120044;   NCI:C4349
For additional species annotation, visit the Alliance of Genome Resources.


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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 RGD:153002829 NCBI chr23:2,584,813...2,619,204
Ensembl chr23:2,586,678...2,737,583 		JBrowse link
G ANXA7 annexin A7 ISO protein:decreased expression:colon RGD PMID:17708571 RGD:2292654 NCBI chr 4:23,933,959...23,961,968
Ensembl chr 4:23,934,234...23,961,880 		JBrowse link
G APC APC regulator of WNT signaling pathway ISO ClinVar Annotator: match by term: Colon adenocarcinoma ClinVar PMID:24033266 PMID:24728327 PMID:25741868 PMID:27978560 PMID:28492532 NCBI chr 3:252,052...380,506
Ensembl chr 3:253,081...322,993 		JBrowse link
G ARID1A AT-rich interaction domain 1A disease_progression ISO protein:decreased expression:colorectum (human) RGD PMID:26980037 RGD:126790569 NCBI chr 2:73,331,606...73,401,151
Ensembl chr 2:73,324,852...73,401,102 		JBrowse link
G B9D2 B9 domain containing 2 disease_progression ISO RGD PMID:9019169 RGD:13432089 NCBI chr 1:112,621,832...112,627,726
Ensembl chr 1:112,621,633...112,643,885 		JBrowse link
G BAX BCL2 associated X, apoptosis regulator susceptibility ISO DNA:frameshift mutation: ; RGD PMID:9020077 RGD:734633 NCBI chr 1:107,423,388...107,426,464
Ensembl chr 1:107,422,424...107,426,464 		JBrowse link
G BCL2 BCL2 apoptosis regulator treatment ISO human cells in mouse model RGD PMID:32504672 RGD:125097526 NCBI chr 1:13,733,849...13,900,653
Ensembl chr 1:13,731,406...13,900,658 		JBrowse link
G BTK Bruton tyrosine kinase ISO mRNA:decreased expression:colon (human) RGD PMID:31402962 RGD:151347853 NCBI chr  X:75,270,952...75,302,663
Ensembl chr  X:75,270,979...75,302,562 		JBrowse link
G CA12 carbonic anhydrase 12 disease_progression ISO RGD PMID:35847888 RGD:153352327 NCBI chr30:27,903,460...27,957,162
Ensembl chr30:27,905,837...27,957,742 		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 chr20:36,189,986...36,488,460
Ensembl chr20:36,191,810...36,613,686 		JBrowse link
G CALR calreticulin ISO RGD PMID:18812201 RGD:150521683 NCBI chr20:49,251,390...49,255,291
Ensembl chr20:49,251,777...49,255,245 		JBrowse link
G CHD4 chromodomain helicase DNA binding protein 4 ameliorates ISO human cells in a mouse model RGD PMID:28486105 RGD:153323299 NCBI chr27:38,411,009...38,440,367
Ensembl chr27:38,411,075...38,439,958 		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:24898549 PMID:29436396 PMID:32304779 RGD:150524289 RGD:150524290 RGD:150524303 NCBI chr 4:58,980,699...59,010,683
Ensembl chr 4:58,980,788...59,010,510 		JBrowse link
G CSF2 colony stimulating factor 2 treatment ISO RGD PMID:10830715 RGD:10450245 NCBI chr11:20,342,880...20,346,959
Ensembl chr11:20,344,648...20,346,959 		JBrowse link
G CTNNB1 catenin beta 1 ISO DNA:mutation RGD PMID:16886601 RGD:1599637 NCBI chr23:10,559,722...10,572,933
Ensembl chr23:10,559,718...10,572,927 		JBrowse link
G CYP24A1 cytochrome P450 family 24 subfamily A member 1 ISO mRNA:increased expression:colonic mucosa (human)
mRNA:increased expression:colon (human)		 RGD PMID:27793774 PMID:33791222 RGD:151665173 RGD:151665790 NCBI chr24:39,861,018...39,878,161
Ensembl chr24:39,862,355...39,878,216 		JBrowse link
G DAXX death domain associated protein ISO protein:decreased expression:colon: RGD PMID:16569639 RGD:9587838 NCBI chr12:2,755,960...2,760,687
Ensembl chr12:2,755,960...2,761,340 		JBrowse link
G EEF2 eukaryotic translation elongation factor 2 ISO protein:increased expression:colon(human) RGD PMID:19360331 RGD:153298969 NCBI chr20:55,577,413...55,586,422
Ensembl chr20:55,522,213...55,586,126 		JBrowse link
G FECH ferrochelatase ISO mRNA:decreased expression:colon RGD PMID:28075030 RGD:14700888 NCBI chr 1:18,352,184...18,384,251
Ensembl chr 1:18,345,811...18,383,092 		JBrowse link
G FOSL1 FOS like 1, AP-1 transcription factor subunit ISO protein:increased expression:colon (human) RGD PMID:22419013 RGD:153344572 NCBI chr18:51,366,719...51,374,411
Ensembl chr18:51,368,352...51,373,748 		JBrowse link
G FOSL2 FOS like 2, AP-1 transcription factor subunit ISO protein:increased expression:colon (human) RGD PMID:22419013 RGD:153344572 NCBI chr17:22,340,469...22,364,994
Ensembl chr17:22,341,322...22,361,772 		JBrowse link
G FOXA1 forkhead box A1 ISO mRNA:decreased expression:colon RGD PMID:32839292 RGD:151665753 NCBI chr 8:16,072,629...16,083,105
Ensembl chr 8:16,079,140...16,083,807 		JBrowse link
G GATA1 GATA binding protein 1 ISO RGD PMID:31069596 RGD:149735196 NCBI chr  X:41,991,321...41,998,319
Ensembl chr  X:41,971,582...41,998,303 		JBrowse link
G HMGB1 high mobility group box 1 ISO RGD PMID:20616616 RGD:10402080 NCBI chr25:9,431,223...9,558,167
Ensembl chr25:9,431,218...9,558,165 		JBrowse link
G IL21 interleukin 21 treatment ISO RGD PMID:17695518 RGD:127285540 NCBI chr19:17,641,833...17,651,275
Ensembl chr19:17,641,833...17,651,266 		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 chr 1:93,321,055...93,438,898
Ensembl chr 1:93,142,635...93,435,997 		JBrowse link
G KDM6A lysine demethylase 6A ISO DNA:hypermethylation RGD PMID:33174323 RGD:150429730 NCBI chr  X:38,745,854...38,964,029
Ensembl chr  X:38,745,854...38,959,842 		JBrowse link
G LOC100856339 phosphatidylinositol 3-kinase regulatory subunit gamma treatment ISO RGD PMID:24632606 RGD:13432053 NCBI chr15:14,222,059...14,357,200
Ensembl chr15:14,235,824...14,353,832 		JBrowse link
G LOX lysyl oxidase ameliorates ISO RGD PMID:21282564 RGD:150520218 NCBI chr11:12,023,645...12,040,015
Ensembl chr11:12,027,250...12,039,819 		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 chr20:52,594,450...52,604,236
Ensembl chr20:52,594,536...52,602,150 		JBrowse link
G MAPK1 mitogen-activated protein kinase 1 ISO RGD PMID:24691442 RGD:13210775 NCBI chr26:31,013,607...31,132,998
Ensembl chr26:31,013,607...31,132,998 		JBrowse link
G MAPK3 mitogen-activated protein kinase 3 ISO RGD PMID:24691442 RGD:13210775 NCBI chr 6:18,109,184...18,115,728
Ensembl chr 6:18,109,222...18,114,425 		JBrowse link
G MGMT O-6-methylguanine-DNA methyltransferase ISO mRNA:decreased expression:colon (rat) RGD PMID:16886601 RGD:1599637 NCBI chr28:38,204,611...38,427,482
Ensembl chr28:38,204,610...38,427,380 		JBrowse link
G MIR155 microRNA mir-155 treatment ISO RGD PMID:29535520 RGD:21409754 NCBI chr31:21,078,768...21,078,828
Ensembl chr31:21,078,758...21,078,833 		JBrowse link
G MMP2 matrix metallopeptidase 2 ISO protein:increased expression:colon (human) RGD PMID:22419013 RGD:153344572 NCBI chr 2:60,471,092...60,492,991
Ensembl chr 2:60,471,257...60,494,113 		JBrowse link
G MMP9 matrix metallopeptidase 9 ISO protein:increased expression:colon (human) RGD PMID:22419013 RGD:153344572 NCBI chr24:33,274,260...33,281,116
Ensembl chr24:33,274,268...33,281,293 		JBrowse link
G MSH6 mutS homolog 6 ISO ClinVar Annotator: match by term: Colon adenocarcinoma ClinVar PMID:25741868 NCBI chr10:49,825,330...49,838,036
Ensembl chr10:49,803,898...49,838,028 		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 chr23:7,901,578...7,905,274
Ensembl chr23:7,901,250...7,904,534 		JBrowse link
G NOS2 nitric oxide synthase 2 ISO protein:increased expression:colon (human) RGD PMID:22419013 RGD:153344572 NCBI chr 9:42,171,821...42,210,217
Ensembl chr 9:42,171,821...42,208,588 		JBrowse link
G PCSK5 proprotein convertase subtilisin/kexin type 5 ISO mRNA:decreased expression:colon: RGD PMID:19737405 RGD:11556207 NCBI chr 1:82,088,090...82,506,131
Ensembl chr 1:82,090,664...82,555,145 		JBrowse link
G PFAS phosphoribosylformylglycinamidine synthase ISO RGD PMID:6722784 RGD:5135276 NCBI chr 5:33,055,144...33,076,823
Ensembl chr 5:33,060,929...33,076,287 		JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha ISO DNA:mutation RGD PMID:17575153 RGD:5685670 NCBI chr34:12,600,140...12,681,905
Ensembl chr34:12,600,233...12,675,910 		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 6:11,726,259...11,758,532
Ensembl chr 6:11,655,494...11,757,216 		JBrowse link
G RAD54L RAD54 like ISO ClinVar Annotator: match by term: Colon adenocarcinoma ClinVar PMID:10362365 NCBI chr15:14,111,168...14,139,819
Ensembl chr15:14,111,157...14,139,301 		JBrowse link
G RNASEL ribonuclease L severity ISO RGD PMID:23567782 RGD:40902808 NCBI chr 7:15,978,055...16,001,604
Ensembl chr 7:15,856,151...16,001,569 		JBrowse link
G RNASET2 ribonuclease T2 ISO human cells in mouse model RGD PMID:30842415 RGD:153002829 NCBI chr 1:54,779,453...54,820,697 JBrowse link
G SLC22A18 solute carrier family 22 member 18 ameliorates ISO mRNA:decreased expression:colorectum (human) RGD PMID:26196590 RGD:11522474 NCBI chr18:46,878,096...46,898,016
Ensembl chr18:46,878,030...46,898,006 		JBrowse link
G SMC2 structural maintenance of chromosomes 2 severity ISO human cell line in a mouse model RGD PMID:23095742 RGD:151356955 NCBI chr11:60,091,728...60,155,295
Ensembl chr11:60,091,457...60,151,442 		JBrowse link
G SRC SRC proto-oncogene, non-receptor tyrosine kinase ameliorates ISO RGD PMID:21282564 RGD:150520218 NCBI chr24:25,982,499...26,019,748
Ensembl chr24:25,999,048...26,018,077 		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 2:71,418,626...71,434,140
Ensembl chr 2:71,394,037...71,471,997 		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 8:43,514,048...43,519,019
Ensembl chr 8:43,514,076...43,518,481 		JBrowse link
G SRSF6 serine and arginine rich splicing factor 6 ISO mRNA:decreased expression:colon mucosa (human) RGD PMID:9865741 RGD:11039405 NCBI chr24:31,217,190...31,222,852
Ensembl chr24:31,217,184...31,218,618 		JBrowse link
G STAT1 signal transducer and activator of transcription 1 ISO DNA:SNPs:introns: (rs2280232, rs4327257) (human) RGD PMID:22121102 RGD:153323313 NCBI chr37:1,513,438...1,549,837
Ensembl chr37:1,507,219...1,550,178 		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:22121102 PMID:32504672 RGD:125097526 RGD:153323313 NCBI chr 9:20,539,660...20,614,631
Ensembl chr 9:20,539,697...20,612,672 		JBrowse link
G STAT5A signal transducer and activator of transcription 5A ISO DNA:SNP:intron: (rs7217728) (human) RGD PMID:22121102 RGD:153323313 NCBI chr 9:20,616,041...20,638,523
Ensembl chr 9:20,617,151...20,638,103 		JBrowse link
G STAT5B signal transducer and activator of transcription 5B ISO DNA:SNPs:introns: (rs6503691, rs7218653) (human) RGD PMID:22121102 RGD:153323313 NCBI chr 9:20,647,712...20,718,453
Ensembl chr 9:20,691,483...20,716,485 		JBrowse link
G STAT6 signal transducer and activator of transcription 6 ISO DNA:SNP:3' utr: (rs324015) (human) RGD PMID:22121102 RGD:153323313 NCBI chr10:1,232,515...1,247,011
Ensembl chr10:1,233,691...1,247,075 		JBrowse link
G TERT telomerase reverse transcriptase treatment ISO RGD PMID:19903903 RGD:11038656 NCBI chr34:11,288,622...11,307,790
Ensembl chr34:11,288,622...11,307,951 		JBrowse link
G TET2 tet methylcytosine dioxygenase 2 ISO mRNA:increased expression:colorectum, Cancer Stem-like Cells (human) RGD PMID:31057717 RGD:150429686 NCBI chr32:26,021,745...26,145,109
Ensembl chr32:26,059,693...26,143,536 		JBrowse link
G TP73 tumor protein p73 ISO mRNA:increased expression:colon (human) RGD PMID:30420492 RGD:151347580 NCBI chr 5:58,194,385...58,241,159
Ensembl chr 5:58,187,826...58,240,839 		JBrowse link
G UBR5 ubiquitin protein ligase E3 component n-recognin 5 severity
ameliorates		 ISO human cell line in a mouse model RGD PMID:28856538 PMID:29296225 RGD:151665195 RGD:151665199 NCBI chr13:3,887,408...4,023,364
Ensembl chr13:3,879,220...4,023,955 		JBrowse link
G VEGFC vascular endothelial growth factor C ISO mRNA:increased expression:colon RGD PMID:18424890 RGD:2315488 NCBI chr16:52,883,242...52,987,684
Ensembl chr16:52,883,139...52,987,563 		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 chr31:30,170,859...30,420,344
Ensembl chr31:30,170,605...30,420,839 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17773
    disease of cellular proliferation 7263
      cancer 5267
        cell type cancer 3617
          carcinoma 3099
            colon carcinoma 133
              colon adenocarcinoma 63
                Somatic Colonic Adenocarcinoma + 1
                colon mucinous adenocarcinoma 0
                colon signet ring adenocarcinoma 1
                submucosal invasive colon adenocarcinoma 0
Path 2
Term Annotations click to browse term
  disease 17773
    disease of anatomical entity 15145
      gastrointestinal system disease 6496
        Digestive System Neoplasms 3710
          Gastrointestinal Neoplasms 3596
            gastrointestinal system cancer 2838
              intestinal cancer 993
                large intestine cancer 991
                  colorectal cancer 991
                    colorectal carcinoma 167
                      colorectal adenocarcinoma 119
                        colon adenocarcinoma 63
                          Somatic Colonic Adenocarcinoma + 1
                          colon mucinous adenocarcinoma 0
                          colon signet ring adenocarcinoma 1
                          submucosal invasive colon adenocarcinoma 0
paths to the root