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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 cancer
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Accession:DOID:1993 term browser browse the term
Definition:A colorectal cancer that is located_in the rectum. (DO)
Synonyms:exact_synonym: cancer of rectum;   carcinoma of rectum;   carcinoma of the rectum;   malignant neoplasm of rectum;   malignant rectal tumor;   malignant rectum tumor;   malignant tumor of rectum;   rectal cancer;   rectal cancers;   rectum cancers
 xref: EFO:1000657;   ICD10CM:C20;   ICD9CM:154.1;   NCI:C7418;   NCI:C9382
For additional species annotation, visit the Alliance of Genome Resources.

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show annotations for term's descendants           Sort by:
rectum cancer term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccng2 cyclin G2 ISO mRNA:decreased expression:colon,rectum (human) RGD PMID:27982046 RGD:151361200 NCBI chrNW_004936676:1,026,113...1,035,313
Ensembl chrNW_004936676:1,025,856...1,037,698 		JBrowse link
G Chd4 chromodomain helicase DNA binding protein 4 ISO DNA:missense mutation:CDS p.D140E (rs7479004) (human) RGD PMID:25407497 RGD:153323305 NCBI chrNW_004936709:1,183,243...1,214,144
Ensembl chrNW_004936709:1,183,254...1,214,149 		JBrowse link
G Cxcr4 C-X-C motif chemokine receptor 4 exacerbates ISO protein:increased expression:rectum (human) RGD PMID:24375277 RGD:152023614 NCBI chrNW_004936469:39,794,613...39,798,448
Ensembl chrNW_004936469:39,794,584...39,798,459 		JBrowse link
G Gpx3 glutathione peroxidase 3 susceptibility ISO DNA:SNPs: (rs3828599, rs736775, rs8177447) (human) RGD PMID:22371331 RGD:151665750 NCBI chrNW_004936647:3,904,787...3,914,223
Ensembl chrNW_004936647:3,906,113...3,913,498 		JBrowse link
G Il6 interleukin 6 treatment ISO RGD PMID:28272402 RGD:14975288 NCBI chrNW_004936549:7,015,595...7,016,246 JBrowse link
G LOC101957714 1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial susceptibility ISO DNA:SNP:intron: (rs6022999) (human) RGD PMID:31740231 RGD:151665338 NCBI chrNW_004936514:1,467,460...1,480,185
Ensembl chrNW_004936514:1,467,261...1,480,185 		JBrowse link
G Map3k1 mitogen-activated protein kinase kinase kinase 1 treatment
susceptibility 		ISO DNA:SNP:intron: (rs2548663) (human)
DNA:SNP:intron: (rs43184) (human) 		RGD PMID:23027623 PMID:23859041 RGD:13217411 RGD:150573807 NCBI chrNW_004936480:11,082,811...11,156,691
Ensembl chrNW_004936480:11,083,605...11,156,691 		JBrowse link
G Mapk14 mitogen-activated protein kinase 14 susceptibility ISO DNA:SNPs:introns: (rs851011, rs851006) (human) RGD PMID:23859041 RGD:150573807 NCBI chrNW_004936476:23,237,762...23,310,211
Ensembl chrNW_004936476:23,237,277...23,310,232 		JBrowse link
G Mre11 MRE11 homolog, double strand break repair nuclease susceptibility ISO DNA:SNP:3'utr: (rs2155209) (human) RGD PMID:26735576 RGD:151361212 NCBI chrNW_004936674:466,495...528,072
Ensembl chrNW_004936674:466,456...530,317 		JBrowse link
G Nbn nibrin susceptibility ISO DNA:SNP:3'utr: (rs14448) (human) RGD PMID:26735576 RGD:151361212 NCBI chrNW_004936544:3,773,828...3,812,673
Ensembl chrNW_004936544:3,775,220...3,808,837 		JBrowse link
G Xrcc5 X-ray repair cross complementing 5 susceptibility ISO DNA:SNP:3'utr: (rs1051677) (human) RGD PMID:26735576 RGD:151361212 NCBI chrNW_004936586:1,055,478...1,137,924
Ensembl chrNW_004936586:1,055,335...1,137,984 		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:26467025 PMID:26530882 PMID:28195569 More... NCBI chrNW_004936531:6,899,580...7,019,016
Ensembl chrNW_004936531:6,899,788...7,019,453 		JBrowse link
G Birc2 baculoviral IAP repeat containing 2 disease_progression ISO mRNA:increased expression:rectum (human) RGD PMID:31964418 RGD:153344516 NCBI chrNW_004936551:5,515,904...5,535,864 JBrowse link
G Birc3 baculoviral IAP repeat containing 3 ameliorates ISO mRNA:increased expression:rectum (human) RGD PMID:31964418 RGD:153344516 NCBI chrNW_004936551:5,544,047...5,556,550
Ensembl chrNW_004936551:5,544,065...5,556,555 		JBrowse link
G Chd4 chromodomain helicase DNA binding protein 4 ISO mRNA:increased expression:rectum (human) RGD PMID:28486105 RGD:153323299 NCBI chrNW_004936709:1,183,243...1,214,144
Ensembl chrNW_004936709:1,183,254...1,214,149 		JBrowse link
G Eef2 eukaryotic translation elongation factor 2 ISO protein:increased expression:rectum (human) RGD PMID:19360331 RGD:153298969 NCBI chrNW_004936588:2,259,236...2,267,692
Ensembl chrNW_004936588:2,258,309...2,266,609 		JBrowse link
G Kdm6a lysine demethylase 6A exacerbates ISO mRNA:decreased expression:rectum (human) RGD PMID:33174323 RGD:150429730 NCBI chrNW_004936502:10,980,303...11,196,711
Ensembl chrNW_004936502:10,980,118...11,196,163 		JBrowse link
G Slc7a5 solute carrier family 7 member 5 treatment ISO RGD PMID:21036745 RGD:151361202 NCBI chrNW_004936641:1,513,110...1,538,955 JBrowse link
G Stat3 signal transducer and activator of transcription 3 ISO DNA:missense mutation:CDS: (rs2293152) (human) RGD PMID:22121102 RGD:153323313 NCBI chrNW_004936490:17,119,189...17,178,402
Ensembl chrNW_004936490:17,117,290...17,178,402 		JBrowse link
G Stat4 signal transducer and activator of transcription 4 ISO DNA:SNP:intron: (rs3024861) (human) RGD PMID:22121102 RGD:153323313 NCBI chrNW_004936506:7,091,982...7,185,938
Ensembl chrNW_004936506:7,095,009...7,184,689 		JBrowse link
G Stat6 signal transducer and activator of transcription 6 ISO DNA:SNP:intron: (rs3024979) (human) RGD PMID:22121102 RGD:153323313 NCBI chrNW_004936646:1,297,530...1,312,508
Ensembl chrNW_004936646:1,296,290...1,312,157 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14641
    disease of anatomical entity 14330
      gastrointestinal system disease 6211
        intestinal disease 2792
          rectal disease 1864
            Colorectal Neoplasms 1618
              colorectal cancer 918
                rectum cancer 20
                  Rectum Carcinoma + 10
                  rectum lymphoma 0
                  rectum malignant melanoma 0
                  rectum neuroendocrine neoplasm 0
                  rectum sarcoma + 0
                  rectum squamous cell carcinoma + 0
Path 2
Term Annotations click to browse term
  disease 14641
    disease of cellular proliferation 7029
      Neoplasms by Site 6511
        Digestive System Neoplasms 3474
          Gastrointestinal Neoplasms 3358
            Intestinal Neoplasms 1636
              intestinal cancer 919
                large intestine cancer 918
                  colorectal cancer 918
                    rectum cancer 20
                      Rectum Carcinoma + 10
                      rectum lymphoma 0
                      rectum malignant melanoma 0
                      rectum neuroendocrine neoplasm 0
                      rectum sarcoma + 0
                      rectum squamous cell carcinoma + 0
paths to the root