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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:ascending colon cancer
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Accession:DOID:218 term browser browse the term
Synonyms:exact_synonym: Ca ascending colon;   malignant neoplasm of right colon;   malignant tumor of ascending colon
 primary_id: RDO:9002025
 xref: ICD10CM:C18.2;   ICD9CM:153.6
For additional species annotation, visit the Alliance of Genome Resources.


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ascending colon cancer 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: Malignant tumor of ascending colon ClinVar PMID:25741868 PMID:28492532 PMID:30093976 NCBI chr18:25,828,558...25,925,511
Ensembl chr18:25,864,222...25,922,696 		JBrowse link
G Msh2 mutS homolog 2 ISO ClinVar Annotator: match by term: Malignant tumor of ascending colon ClinVar PMID:9311737 PMID:9718327 PMID:11208710 PMID:11524701 PMID:11601928 More... NCBI chr 6:6,813,793...6,872,960
Ensembl chr 6:6,813,795...6,872,938 		JBrowse link
G Pole DNA polymerase epsilon, catalytic subunit susceptibility
onset		 ISO DNA:missense mutation:CDS, exon 9:p.P286R (human)
DNA:mutations:multiple (human)
DNA:mutations:multiple (human, non-Asian)		 RGD PMID:27612425 PMID:28404093 PMID:33125191 RGD:151347640, RGD:151347649, RGD:151347651 NCBI chr12:46,345,420...46,393,984
Ensembl chr12:46,345,420...46,393,939 		JBrowse link
G Rnf43 ring finger protein 43 exacerbates ISO DNA:nonsense mutation, frameshift mutations:CDS:multiple (human) RGD PMID:32236609 RGD:151361217 NCBI chr10:72,461,508...72,537,301
Ensembl chr10:72,464,348...72,536,977 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      gastrointestinal system disease 7095
        intestinal disease 3077
          rectal disease 2047
            Colorectal Neoplasms 1792
              colorectal cancer 1010
                colon cancer 250
                  ascending colon cancer 4
                    hepatic flexure cancer 0
Path 2
Term Annotations click to browse term
  disease 18969
    disease of cellular proliferation 7691
      Neoplasms by Site 7143
        Digestive System Neoplasms 3837
          Gastrointestinal Neoplasms 3712
            Intestinal Neoplasms 1811
              intestinal cancer 1012
                large intestine cancer 1010
                  colorectal cancer 1010
                    colon cancer 250
                      ascending colon cancer 4
                        hepatic flexure cancer 0
paths to the root