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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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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_004624757:13,828,768...13,837,994
Ensembl chrNW_004624757:13,828,338...13,837,407 		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_004624860:3,285,086...3,318,939
Ensembl chrNW_004624860:3,283,837...3,318,985 		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_004624732:35,473,740...35,477,482
Ensembl chrNW_004624732:35,472,760...35,477,528 		JBrowse link
G Gpx3 glutathione peroxidase 3 susceptibility ISO DNA:SNPs: (rs3828599, rs736775, rs8177447) (human) RGD PMID:22371331 RGD:151665750 NCBI chrNW_004624733:40,957,895...40,963,469
Ensembl chrNW_004624733:40,957,999...40,962,993 		JBrowse link
G Il6 interleukin 6 treatment ISO RGD PMID:28272402 RGD:14975288 NCBI chrNW_004624739:7,957,709...7,963,414
Ensembl chrNW_004624739:7,957,674...7,962,318 		JBrowse link
G LOC101716773 1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial susceptibility ISO DNA:SNP:intron: (rs6022999) (human) RGD PMID:31740231 RGD:151665338 NCBI chrNW_004624790:2,183,079...2,200,219
Ensembl chrNW_004624790:2,182,598...2,200,425 		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_004624759:2,360,655...2,429,189
Ensembl chrNW_004624759:2,363,076...2,428,273 		JBrowse link
G Mapk14 mitogen-activated protein kinase 14 susceptibility ISO DNA:SNPs:introns: (rs851011, rs851006) (human) RGD PMID:23859041 RGD:150573807 NCBI chrNW_004624754:21,528,121...21,598,064
Ensembl chrNW_004624754:21,527,333...21,597,733 		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_004624735:39,095,559...39,153,936
Ensembl chrNW_004624735:39,092,781...39,153,920 		JBrowse link
G Nbn nibrin susceptibility ISO DNA:SNP:3'utr: (rs14448) (human) RGD PMID:26735576 RGD:151361212 NCBI chrNW_004624744:2,013,936...2,061,726
Ensembl chrNW_004624744:2,013,922...2,061,708 		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_004624743:30,517,034...30,635,740
Ensembl chrNW_004624743:30,546,323...30,635,737 		JBrowse link
G Birc2 baculoviral IAP repeat containing 2 disease_progression ISO mRNA:increased expression:rectum (human) RGD PMID:31964418 RGD:153344516 NCBI chrNW_004624878:476,460...514,637 JBrowse link
G Birc3 baculoviral IAP repeat containing 3 ameliorates ISO mRNA:increased expression:rectum (human) RGD PMID:31964418 RGD:153344516 NCBI chrNW_004624878:516,750...541,475
Ensembl chrNW_004624878:523,300...536,062 		JBrowse link
G Chd4 chromodomain helicase DNA binding protein 4 ISO mRNA:increased expression:rectum (human) RGD PMID:28486105 RGD:153323299 NCBI chrNW_004624860:3,285,086...3,318,939
Ensembl chrNW_004624860:3,283,837...3,318,985 		JBrowse link
G Eef2 eukaryotic translation elongation factor 2 ISO protein:increased expression:rectum (human) RGD PMID:19360331 RGD:153298969 NCBI chrNW_004624828:5,601,906...5,609,978
Ensembl chrNW_004624828:5,601,444...5,611,405 		JBrowse link
G Kdm6a lysine demethylase 6A exacerbates ISO mRNA:decreased expression:rectum (human) RGD PMID:33174323 RGD:150429730 NCBI chrNW_004624887:1,065,173...1,279,660
Ensembl chrNW_004624887:1,065,883...1,279,186 		JBrowse link
G Slc7a5 solute carrier family 7 member 5 treatment ISO RGD PMID:21036745 RGD:151361202 NCBI chrNW_004624746:1,325,368...1,349,616 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_004624795:1,648,235...1,680,788
Ensembl chrNW_004624795:1,648,080...1,681,200 		JBrowse link
G Stat4 signal transducer and activator of transcription 4 ISO DNA:SNP:intron: (rs3024861) (human) RGD PMID:22121102 RGD:153323313 NCBI chrNW_004624854:4,975,724...5,056,940
Ensembl chrNW_004624854:4,976,507...5,057,391 		JBrowse link
G Stat6 signal transducer and activator of transcription 6 ISO DNA:SNP:intron: (rs3024979) (human) RGD PMID:22121102 RGD:153323313 NCBI chrNW_004624802:10,809,234...10,847,762
Ensembl chrNW_004624802:10,809,252...10,846,693 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14234
    disease of anatomical entity 13936
      gastrointestinal system disease 6065
        intestinal disease 2722
          rectal disease 1821
            Colorectal Neoplasms 1579
              colorectal cancer 893
                rectum cancer 19
                  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 14234
    disease of cellular proliferation 6854
      Neoplasms by Site 6352
        Digestive System Neoplasms 3386
          Gastrointestinal Neoplasms 3277
            Intestinal Neoplasms 1596
              intestinal cancer 894
                large intestine cancer 893
                  colorectal cancer 893
                    rectum cancer 19
                      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