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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:rectum adenocarcinoma
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Accession:DOID:1996 term browser browse the term
Definition:A rectum cancer that derives_from epithelial cells of glandular origin. (DO)
Synonyms:exact_synonym: rectal adenocarcinoma
 related_synonym: adenocarcinoma of rectum
 xref: EFO:0005631;   NCI:C9383
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
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:26467025 PMID:26530882 PMID:28195569 More... NCBI chr18:26,138,382...26,196,021
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 8:13,253,697...13,273,672
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 8:13,285,702...13,313,329
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 4:159,584,623...159,617,867
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 7:9,183,836...9,196,255
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:6,920,374...7,060,027
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 chr19:66,843,808...66,872,412
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 chr10:86,311,528...86,363,513
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 9:56,964,617...57,080,523
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 7:65,365,505...65,382,825
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 19140
    disease of cellular proliferation 7891
      cancer 5720
        cell type cancer 3783
          carcinoma 3273
            colorectal carcinoma 172
              colorectal adenocarcinoma 124
                rectum adenocarcinoma 10
                  rectum mucinous adenocarcinoma 0
                  rectum signet ring adenocarcinoma 0
Path 2
Term Annotations click to browse term
  disease 19140
    disease of cellular proliferation 7891
      Neoplasms by Site 7333
        Digestive System Neoplasms 3852
          Gastrointestinal Neoplasms 3729
            Intestinal Neoplasms 1812
              intestinal cancer 1014
                large intestine cancer 1013
                  colorectal cancer 1013
                    colorectal carcinoma 172
                      colorectal adenocarcinoma 124
                        rectum adenocarcinoma 10
                          rectum mucinous adenocarcinoma 0
                          rectum signet ring adenocarcinoma 0
paths to the root