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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_004955433:1,799,405...1,807,050
Ensembl chrNW_004955433:1,798,732...1,807,827 		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_004955413:4,191,619...4,228,225
Ensembl chrNW_004955413:4,191,619...4,228,225 		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_004955440:3,456,165...3,460,024
Ensembl chrNW_004955440:3,455,153...3,460,109 		JBrowse link
G Gpx3 glutathione peroxidase 3 susceptibility ISO DNA:SNPs: (rs3828599, rs736775, rs8177447) (human) RGD PMID:22371331 RGD:151665750 NCBI chrNW_004955408:2,622,162...2,629,088
Ensembl chrNW_004955408:2,622,741...2,629,032 		JBrowse link
G Il6 interleukin 6 treatment ISO RGD PMID:28272402 RGD:14975288 NCBI chrNW_004955410:25,079,835...25,084,390 JBrowse link
G LOC102013768 1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial susceptibility ISO DNA:SNP:intron: (rs6022999) (human) RGD PMID:31740231 RGD:151665338 NCBI chrNW_004955445:4,874,583...4,891,723
Ensembl chrNW_004955445:4,873,942...4,891,780 		JBrowse link
G Map3k1 mitogen-activated protein kinase kinase kinase 1 susceptibility
treatment 		ISO DNA:SNP:intron: (rs43184) (human)
DNA:SNP:intron: (rs2548663) (human) 		RGD PMID:23027623 PMID:23859041 RGD:13217411 RGD:150573807 NCBI chrNW_004955446:11,022,091...11,090,136
Ensembl chrNW_004955446:11,021,971...11,090,136 		JBrowse link
G Mapk14 mitogen-activated protein kinase 14 susceptibility ISO DNA:SNPs:introns: (rs851011, rs851006) (human) RGD PMID:23859041 RGD:150573807 NCBI chrNW_004955437:3,836,331...3,884,083
Ensembl chrNW_004955437:3,838,232...3,884,083 		JBrowse link
G Nbn nibrin susceptibility ISO DNA:SNP:3'utr: (rs14448) (human) RGD PMID:26735576 RGD:151361212 NCBI chrNW_004955417:6,840,916...6,880,479
Ensembl chrNW_004955417:6,839,312...6,880,133 		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_004955453:16,967,453...17,054,634
Ensembl chrNW_004955453:16,967,453...17,054,634 		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_004955418:2,567,804...2,675,062
Ensembl chrNW_004955418:2,566,975...2,674,832 		JBrowse link
G Birc2 baculoviral IAP repeat containing 2 disease_progression ISO mRNA:increased expression:rectum (human) RGD PMID:31964418 RGD:153344516 NCBI chrNW_004955412:5,658,322...5,685,628
Ensembl chrNW_004955412:5,659,478...5,685,114 		JBrowse link
G Birc3 baculoviral IAP repeat containing 3 ameliorates ISO mRNA:increased expression:rectum (human) RGD PMID:31964418 RGD:153344516 NCBI chrNW_004955412:5,624,865...5,643,520
Ensembl chrNW_004955412:5,628,973...5,643,410 		JBrowse link
G Chd4 chromodomain helicase DNA binding protein 4 ISO mRNA:increased expression:rectum (human) RGD PMID:28486105 RGD:153323299 NCBI chrNW_004955413:4,191,619...4,228,225
Ensembl chrNW_004955413:4,191,619...4,228,225 		JBrowse link
G Eef2 eukaryotic translation elongation factor 2 ISO protein:increased expression:rectum (human) RGD PMID:19360331 RGD:153298969 NCBI chrNW_004955495:4,800,103...4,807,714
Ensembl chrNW_004955495:4,799,922...4,807,252 		JBrowse link
G Kdm6a lysine demethylase 6A exacerbates ISO mRNA:decreased expression:rectum (human) RGD PMID:33174323 RGD:150429730 NCBI chrNW_004955516:3,151,350...3,346,832
Ensembl chrNW_004955516:3,149,948...3,346,832 		JBrowse link
G Slc7a5 solute carrier family 7 member 5 treatment ISO RGD PMID:21036745 RGD:151361202 NCBI chrNW_004955541:2,103,437...2,129,668
Ensembl chrNW_004955541:2,103,384...2,130,310 		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_004955451:16,320,326...16,348,505
Ensembl chrNW_004955451:16,319,904...16,357,687 		JBrowse link
G Stat4 signal transducer and activator of transcription 4 ISO DNA:SNP:intron: (rs3024861) (human) RGD PMID:22121102 RGD:153323313 NCBI chrNW_004955403:8,061,471...8,144,252
Ensembl chrNW_004955403:8,061,471...8,144,276 		JBrowse link
G Stat6 signal transducer and activator of transcription 6 ISO DNA:SNP:intron: (rs3024979) RGD PMID:22121102 RGD:153323313 NCBI chrNW_004955458:4,833,417...4,847,956
Ensembl chrNW_004955458:4,833,515...4,843,273 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14341
    disease of anatomical entity 14034
      gastrointestinal system disease 6110
        intestinal disease 2739
          rectal disease 1833
            Colorectal Neoplasms 1588
              colorectal cancer 906
                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 14341
    disease of cellular proliferation 6899
      Neoplasms by Site 6393
        Digestive System Neoplasms 3413
          Gastrointestinal Neoplasms 3303
            Intestinal Neoplasms 1606
              intestinal cancer 907
                large intestine cancer 906
                  colorectal cancer 906
                    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