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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.


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 IMP
IEP		 human cells in mouse model
mRNA:decreased expression:colon (human)		 RGD PMID:30842415 PMID:30842415 RGD:153002829, RGD:153002829 NCBI chr 3:43,690,870...43,734,371
Ensembl chr 3:43,690,108...43,734,371 		JBrowse link
G ANXA7 annexin A7 IEP protein:decreased expression:colon RGD PMID:17708571 RGD:2292654 NCBI chr10:73,375,101...73,414,058
Ensembl chr10:73,375,101...73,414,076 		JBrowse link
G APC APC regulator of WNT signaling pathway ISO
IAGP		 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 chr 5:112,707,498...112,846,239
Ensembl chr 5:112,707,518...112,846,239 		JBrowse link
G ARID1A AT-rich interaction domain 1A disease_progression HEP protein:decreased expression:colorectum (human) RGD PMID:26980037 RGD:126790569 NCBI chr 1:26,696,015...26,782,104
Ensembl chr 1:26,693,236...26,782,104 		JBrowse link
G BAX BCL2 associated X, apoptosis regulator susceptibility IAGP DNA:frameshift mutation: ; RGD PMID:9020077 RGD:734633 NCBI chr19:48,954,875...48,961,798
Ensembl chr19:48,954,815...48,961,798 		JBrowse link
G BCL2 BCL2 apoptosis regulator treatment IEP human cells in mouse model RGD PMID:32504672 RGD:125097526 NCBI chr18:63,123,346...63,320,090
Ensembl chr18:63,123,346...63,320,128 		JBrowse link
G BTK Bruton tyrosine kinase HEP mRNA:decreased expression:colon (human) RGD PMID:31402962 RGD:151347853 NCBI chr  X:101,349,450...101,390,796
Ensembl chr  X:101,349,338...101,390,796 		JBrowse link
G CA12 carbonic anhydrase 12 disease_progression IEP RGD PMID:35847888 RGD:153352327 NCBI chr15:63,321,378...63,381,846
Ensembl chr15:63,321,378...63,381,846 		JBrowse link
G CACNA1D calcium voltage-gated channel subunit alpha1 D disease_progression HEP protein:increased expression:colon (human) RGD PMID:29079724 RGD:152177516 NCBI chr 3:53,494,611...53,813,733
Ensembl chr 3:53,328,963...53,813,733 		JBrowse link
G CALR calreticulin ISO RGD PMID:18812201 RGD:150521683 NCBI chr19:12,938,609...12,944,489
Ensembl chr19:12,938,578...12,944,489 		JBrowse link
G CHD4 chromodomain helicase DNA binding protein 4 ameliorates IMP human cells in a mouse model RGD PMID:28486105 RGD:153323299 NCBI chr12:6,570,082...6,607,379
Ensembl chr12:6,570,082...6,614,524 		JBrowse link
G CSF1R colony stimulating factor 1 receptor ameliorates ISO
IMP		 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 chr 5:150,053,295...150,113,365
Ensembl chr 5:150,053,291...150,113,372 		JBrowse link
G CSF2 colony stimulating factor 2 treatment ISO RGD PMID:10830715 RGD:10450245 NCBI chr 5:132,073,789...132,076,170
Ensembl chr 5:132,073,789...132,076,170 		JBrowse link
G CTNNB1 catenin beta 1 ISO DNA:mutation RGD PMID:16886601 RGD:1599637 NCBI chr 3:41,199,505...41,240,443
Ensembl chr 3:41,194,741...41,260,096 		JBrowse link
G CYP24A1 cytochrome P450 family 24 subfamily A member 1 IEP
HEP		 mRNA:increased expression:colonic mucosa (human)
mRNA:increased expression:colon (human)		 RGD PMID:27793774 PMID:33791222 RGD:151665173, RGD:151665790 NCBI chr20:54,143,538...54,173,986
Ensembl chr20:54,153,446...54,173,986 		JBrowse link
G DAXX death domain associated protein IEP protein:decreased expression:colon: RGD PMID:16569639 RGD:9587838 NCBI chr 6:33,318,558...33,322,959
Ensembl chr 6:33,318,558...33,323,016 		JBrowse link
G EEF2 eukaryotic translation elongation factor 2 IEP protein:increased expression:colon(human) RGD PMID:19360331 RGD:153298969 NCBI chr19:3,976,056...3,985,463
Ensembl chr19:3,976,056...3,985,463 		JBrowse link
G FECH ferrochelatase IEP mRNA:decreased expression:colon RGD PMID:28075030 RGD:14700888 NCBI chr18:57,544,377...57,586,702
Ensembl chr18:57,544,377...57,586,732 		JBrowse link
G FOSL1 FOS like 1, AP-1 transcription factor subunit IEP protein:increased expression:colon (human) RGD PMID:22419013 RGD:153344572 NCBI chr11:65,892,049...65,900,545
Ensembl chr11:65,892,049...65,900,573 		JBrowse link
G FOSL2 FOS like 2, AP-1 transcription factor subunit IEP protein:increased expression:colon (human) RGD PMID:22419013 RGD:153344572 NCBI chr 2:28,392,858...28,417,317
Ensembl chr 2:28,392,448...28,417,317 		JBrowse link
G FOXA1 forkhead box A1 IEP mRNA:decreased expression:colon RGD PMID:32839292 RGD:151665753 NCBI chr14:37,589,552...37,595,249
Ensembl chr14:37,589,552...37,596,059 		JBrowse link
G GATA1 GATA binding protein 1 IMP RGD PMID:31069596 RGD:149735196 NCBI chr  X:48,786,590...48,794,311
Ensembl chr  X:48,786,540...48,794,311 		JBrowse link
G HMGB1 high mobility group box 1 ISO RGD PMID:20616616 RGD:10402080 NCBI chr13:30,456,704...30,617,597
Ensembl chr13:30,456,704...30,617,597 		JBrowse link
G IL21 interleukin 21 treatment ISO RGD PMID:17695518 RGD:127285540 NCBI chr 4:122,610,108...122,621,066
Ensembl chr 4:122,610,108...122,621,066 		JBrowse link
G JAK2 Janus kinase 2 treatment
ameliorates		 IEP
IMP		 Human cell in mouse model
human cells in mouse model		 RGD PMID:32504672 PMID:22050790 RGD:125097526, RGD:127285665 NCBI chr 9:4,984,390...5,129,948
Ensembl chr 9:4,984,390...5,129,948 		JBrowse link
G KDM6A lysine demethylase 6A IDA DNA:hypermethylation RGD PMID:33174323 RGD:150429730 NCBI chr  X:44,873,188...45,112,779
Ensembl chr  X:44,873,188...45,112,779 		JBrowse link
G LOX lysyl oxidase ameliorates IMP RGD PMID:21282564 RGD:150520218 NCBI chr 5:122,063,195...122,078,259
Ensembl chr 5:122,063,195...122,078,413 		JBrowse link
G MAP2K7 mitogen-activated protein kinase kinase 7 IMP human cell line and gene in a mouse model RGD PMID:18436711 RGD:155630593 NCBI chr19:7,903,877...7,914,478
Ensembl chr19:7,903,843...7,914,478 		JBrowse link
G MAPK1 mitogen-activated protein kinase 1 IDA RGD PMID:24691442 RGD:13210775 NCBI chr22:21,759,657...21,867,680
Ensembl chr22:21,759,657...21,867,680 		JBrowse link
G MAPK3 mitogen-activated protein kinase 3 IDA RGD PMID:24691442 RGD:13210775 NCBI chr16:30,114,105...30,123,220
Ensembl chr16:30,114,105...30,123,506 		JBrowse link
G MGMT O-6-methylguanine-DNA methyltransferase ISO mRNA:decreased expression:colon (rat) RGD PMID:16886601 RGD:1599637 NCBI chr10:129,467,241...129,770,983
Ensembl chr10:129,467,190...129,770,983 		JBrowse link
G MIR155 microRNA 155 treatment IMP RGD PMID:29535520 RGD:21409754 NCBI chr21:25,573,980...25,574,044
Ensembl chr21:25,573,980...25,574,044 		JBrowse link
G MIR645 microRNA 645 severity IEP RGD PMID:28504690 RGD:151660340 NCBI chr20:50,585,786...50,585,879
Ensembl chr20:50,585,786...50,585,879 		JBrowse link
G MMP2 matrix metallopeptidase 2 IEP protein:increased expression:colon (human) RGD PMID:22419013 RGD:153344572 NCBI chr16:55,478,830...55,506,691
Ensembl chr16:55,389,700...55,506,691 		JBrowse link
G MMP9 matrix metallopeptidase 9 IEP protein:increased expression:colon (human) RGD PMID:22419013 RGD:153344572 NCBI chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561 		JBrowse link
G MSH6 mutS homolog 6 IAGP ClinVar Annotator: match by term: Colon adenocarcinoma ClinVar PMID:25741868 NCBI chr 2:47,783,145...47,810,101
Ensembl chr 2:47,695,530...47,810,063 		JBrowse link
G MYD88 MYD88 innate immune signal transduction adaptor exacerbates IMP human cell line in a mouse model RGD PMID:18538140 RGD:150521533 NCBI chr 3:38,138,661...38,143,022
Ensembl chr 3:38,138,552...38,143,024 		JBrowse link
G NAIP NLR family apoptosis inhibitory protein exacerbates HEP mRNA:increased expression:colon (human) RGD PMID:31964418 RGD:153344516 NCBI chr 5:70,968,166...71,025,339
Ensembl chr 5:70,968,166...71,025,339 		JBrowse link
G NOS2 nitric oxide synthase 2 IEP protein:increased expression:colon (human) RGD PMID:22419013 RGD:153344572 NCBI chr17:27,756,766...27,800,529
Ensembl chr17:27,756,766...27,800,529 		JBrowse link
G PCSK5 proprotein convertase subtilisin/kexin type 5 IEP mRNA:decreased expression:colon: RGD PMID:19737405 RGD:11556207 NCBI chr 9:75,889,809...76,362,975
Ensembl chr 9:75,890,644...76,362,975 		JBrowse link
G PFAS phosphoribosylformylglycinamidine synthase IEP RGD PMID:6722784 RGD:5135276 NCBI chr17:8,247,608...8,270,486
Ensembl chr17:8,247,618...8,270,491 		JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha IAGP DNA:mutation RGD PMID:17575153 RGD:5685670 NCBI chr 3:179,148,126...179,240,093
Ensembl chr 3:179,148,114...179,240,093 		JBrowse link
G PIK3R3 phosphoinositide-3-kinase regulatory subunit 3 treatment IDA RGD PMID:24632606 RGD:13432053 NCBI chr 1:46,040,140...46,174,901
Ensembl chr 1:46,040,140...46,133,036 		JBrowse link
G RAC1 Rac family small GTPase 1 treatment IEP
IMP		 mRNA:alternative form RGD PMID:10597294 PMID:19561401 RGD:13432049, RGD:13432051 NCBI chr 7:6,374,527...6,403,967
Ensembl chr 7:6,374,527...6,403,967 		JBrowse link
G RAD54L RAD54 like IAGP ClinVar Annotator: match by term: Colon adenocarcinoma ClinVar PMID:10362365 NCBI chr 1:46,247,688...46,278,473
Ensembl chr 1:46,246,461...46,278,480 		JBrowse link
G RNASEL ribonuclease L severity ISO RGD PMID:23567782 RGD:40902808 NCBI chr 1:182,573,634...182,589,256
Ensembl chr 1:182,573,634...182,589,256 		JBrowse link
G RNASET2 ribonuclease T2 IMP human cells in mouse model RGD PMID:30842415 RGD:153002829 NCBI chr 6:166,922,113...166,956,550
Ensembl chr 6:166,922,113...166,957,191 		JBrowse link
G SLC22A18 solute carrier family 22 member 18 ameliorates IEP mRNA:decreased expression:colorectum (human) RGD PMID:26196590 RGD:11522474 NCBI chr11:2,899,691...2,925,246
Ensembl chr11:2,899,721...2,925,246 		JBrowse link
G SMC2 structural maintenance of chromosomes 2 severity IMP human cell line in a mouse model RGD PMID:23095742 RGD:151356955 NCBI chr 9:104,088,263...104,141,419
Ensembl chr 9:104,094,260...104,141,419 		JBrowse link
G SRC SRC proto-oncogene, non-receptor tyrosine kinase ameliorates IMP RGD PMID:21282564 RGD:150520218 NCBI chr20:37,344,699...37,406,050
Ensembl chr20:37,344,685...37,406,050 		JBrowse link
G SRSF4 serine and arginine rich splicing factor 4 IEP mRNA:decreased expression:colon mucosa (human) RGD PMID:9865741 RGD:11039405 NCBI chr 1:29,147,743...29,181,900
Ensembl chr 1:29,147,743...29,181,900 		JBrowse link
G SRSF5 serine and arginine rich splicing factor 5 IEP mRNA:decreased expression:colon mucosa (human) RGD PMID:9865741 RGD:11039405 NCBI chr14:69,767,142...69,772,005
Ensembl chr14:69,726,900...69,772,005 		JBrowse link
G SRSF6 serine and arginine rich splicing factor 6 IEP mRNA:decreased expression:colon mucosa (human) RGD PMID:9865741 RGD:11039405 NCBI chr20:43,457,896...43,464,243
Ensembl chr20:43,457,893...43,466,046 		JBrowse link
G STAT1 signal transducer and activator of transcription 1 IAGP DNA:SNPs:introns: (rs2280232, rs4327257) (human) RGD PMID:22121102 RGD:153323313 NCBI chr 2:190,969,149...191,014,171
Ensembl chr 2:190,908,460...191,020,960 		JBrowse link
G STAT3 signal transducer and activator of transcription 3 treatment IEP
IAGP		 human cells in mouse model
DNA:SNPs:introns: (rs12949918, rs6503695) (human)		 RGD PMID:32504672 PMID:22121102 RGD:125097526, RGD:153323313 NCBI chr17:42,313,324...42,388,442
Ensembl chr17:42,313,324...42,388,568 		JBrowse link
G STAT5A signal transducer and activator of transcription 5A IAGP DNA:SNP:intron: (rs7217728) (human) RGD PMID:22121102 RGD:153323313 NCBI chr17:42,287,439...42,311,943
Ensembl chr17:42,287,547...42,311,943 		JBrowse link
G STAT5B signal transducer and activator of transcription 5B IAGP DNA:SNPs:introns: (rs6503691, rs7218653) (human) RGD PMID:22121102 RGD:153323313 NCBI chr17:42,199,177...42,288,370
Ensembl chr17:42,199,176...42,288,633 		JBrowse link
G STAT6 signal transducer and activator of transcription 6 IAGP DNA:SNP:3' utr: (rs324015) (human) RGD PMID:22121102 RGD:153323313 NCBI chr12:57,095,408...57,111,362
Ensembl chr12:57,095,408...57,132,139 		JBrowse link
G TERT telomerase reverse transcriptase treatment ISO RGD PMID:19903903 RGD:11038656 NCBI chr 5:1,253,167...1,295,068
Ensembl chr 5:1,253,147...1,295,068 		JBrowse link
G TET2 tet methylcytosine dioxygenase 2 IEP mRNA:increased expression:colorectum, Cancer Stem-like Cells (human) RGD PMID:31057717 RGD:150429686 NCBI chr 4:105,145,875...105,279,803
Ensembl chr 4:105,145,875...105,279,816 		JBrowse link
G TGFB1 transforming growth factor beta 1 disease_progression IMP RGD PMID:9019169 RGD:13432089 NCBI chr19:41,330,323...41,353,922
Ensembl chr19:41,301,587...41,353,922 		JBrowse link
G TP73 tumor protein p73 HEP mRNA:increased expression:colon (human) RGD PMID:30420492 RGD:151347580 NCBI chr 1:3,652,516...3,736,201
Ensembl chr 1:3,652,516...3,736,201 		JBrowse link
G UBR5 ubiquitin protein ligase E3 component n-recognin 5 ameliorates
severity		 IMP human cell line in a mouse model RGD PMID:29296225 PMID:28856538 RGD:151665195, RGD:151665199 NCBI chr 8:102,252,273...102,412,700
Ensembl chr 8:102,252,273...102,412,759 		JBrowse link
G VEGFC vascular endothelial growth factor C ISO mRNA:increased expression:colon RGD PMID:18424890 RGD:2315488 NCBI chr 4:176,683,538...176,792,922
Ensembl chr 4:176,683,538...176,792,922 		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 IEP mRNA:increased expression:colon RGD PMID:29747153 RGD:126779566 NCBI chr21:34,787,801...35,049,302
Ensembl chr21:34,787,801...36,004,667 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 35757
    disease of cellular proliferation 9934
      cancer 6899
        cell type cancer 4782
          carcinoma 3615
            colon carcinoma 146
              colon adenocarcinoma 65
                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 35757
    disease of anatomical entity 32521
      gastrointestinal system disease 8227
        Digestive System Neoplasms 4211
          Gastrointestinal Neoplasms 4077
            gastrointestinal system cancer 3200
              intestinal cancer 1088
                large intestine cancer 1086
                  colorectal cancer 1086
                    colorectal carcinoma 173
                      colorectal adenocarcinoma 124
                        colon adenocarcinoma 65
                          Somatic Colonic Adenocarcinoma + 1
                          colon mucinous adenocarcinoma 0
                          colon signet ring adenocarcinoma 1
                          submucosal invasive colon adenocarcinoma 0
paths to the root