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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.


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 IEP mRNA:decreased expression:colon,rectum (human) RGD PMID:27982046 RGD:151361200 NCBI chr 4:77,157,207...77,170,060
Ensembl chr 4:77,157,207...77,433,388 		JBrowse link
G CHD4 chromodomain helicase DNA binding protein 4 IAGP DNA:missense mutation:CDS p.D140E (rs7479004) (human) RGD PMID:25407497 RGD:153323305 NCBI chr12:6,570,082...6,607,379
Ensembl chr12:6,570,082...6,614,524 		JBrowse link
G CXCR4 C-X-C motif chemokine receptor 4 exacerbates IEP protein:increased expression:rectum (human) RGD PMID:24375277 RGD:152023614 NCBI chr 2:136,114,349...136,118,149
Ensembl chr 2:136,114,349...136,119,177 		JBrowse link
G CYP24A1 cytochrome P450 family 24 subfamily A member 1 susceptibility IAGP DNA:SNP:intron: (rs6022999) (human) RGD PMID:31740231 RGD:151665338 NCBI chr20:54,143,538...54,173,986
Ensembl chr20:54,153,446...54,173,986 		JBrowse link
G GPX3 glutathione peroxidase 3 susceptibility IAGP DNA:SNPs: (rs3828599, rs736775, rs8177447) (human) RGD PMID:22371331 RGD:151665750 NCBI chr 5:151,020,591...151,028,988
Ensembl chr 5:151,020,591...151,028,988 		JBrowse link
G IL6 interleukin 6 treatment IDA RGD PMID:28272402 RGD:14975288 NCBI chr 7:22,727,200...22,731,998
Ensembl chr 7:22,725,884...22,732,002 		JBrowse link
G MAP3K1 mitogen-activated protein kinase kinase kinase 1 susceptibility
treatment 		IAGP DNA:SNP:intron: (rs43184) (human)
DNA:SNP:intron: (rs2548663) (human) 		RGD PMID:23859041 PMID:23027623 RGD:150573807, RGD:13217411 NCBI chr 5:56,815,549...56,896,152
Ensembl chr 5:56,815,549...56,896,152 		JBrowse link
G MAPK14 mitogen-activated protein kinase 14 susceptibility IAGP DNA:SNPs:introns: (rs851011, rs851006) (human) RGD PMID:23859041 RGD:150573807 NCBI chr 6:36,027,808...36,124,214
Ensembl chr 6:36,027,752...36,122,511 		JBrowse link
G MIR20A microRNA 20a IEP RGD PMID:30277504 RGD:25823152 NCBI chr13:91,351,065...91,351,135
Ensembl chr13:91,351,065...91,351,135 		JBrowse link
G MRE11 MRE11 homolog, double strand break repair nuclease susceptibility IAGP DNA:SNP:3'utr: (rs2155209) (human) RGD PMID:26735576 RGD:151361212 NCBI chr11:94,415,570...94,512,412
Ensembl chr11:94,415,570...94,493,885 		JBrowse link
G NBN nibrin susceptibility IAGP DNA:SNP:3'utr: (rs14448) (human) RGD PMID:26735576 RGD:151361212 NCBI chr 8:89,933,331...89,984,667
Ensembl chr 8:89,924,515...90,003,228 		JBrowse link
G XRCC5 X-ray repair cross complementing 5 susceptibility IAGP DNA:SNP:3'utr: (rs1051677) (human) RGD PMID:26735576 RGD:151361212 NCBI chr 2:216,109,348...216,206,293
Ensembl chr 2:216,107,464...216,206,303 		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 IAGP ClinVar Annotator: match by term: Rectum adenocarcinoma ClinVar PMID:24033266 PMID:25741868 PMID:26467025 PMID:26530882 PMID:28195569 More... NCBI chr 5:112,707,498...112,846,239
Ensembl chr 5:112,707,518...112,846,239 		JBrowse link
G BIRC2 baculoviral IAP repeat containing 2 disease_progression HEP mRNA:increased expression:rectum (human) RGD PMID:31964418 RGD:153344516 NCBI chr11:102,347,214...102,378,670
Ensembl chr11:102,347,211...102,378,670 		JBrowse link
G BIRC3 baculoviral IAP repeat containing 3 ameliorates HEP mRNA:increased expression:rectum (human) RGD PMID:31964418 RGD:153344516 NCBI chr11:102,317,484...102,339,403
Ensembl chr11:102,317,484...102,339,403 		JBrowse link
G CHD4 chromodomain helicase DNA binding protein 4 HEP mRNA:increased expression:rectum (human) RGD PMID:28486105 RGD:153323299 NCBI chr12:6,570,082...6,607,379
Ensembl chr12:6,570,082...6,614,524 		JBrowse link
G EEF2 eukaryotic translation elongation factor 2 IEP protein:increased expression:rectum (human) RGD PMID:19360331 RGD:153298969 NCBI chr19:3,976,056...3,985,463
Ensembl chr19:3,976,056...3,985,463 		JBrowse link
G KDM6A lysine demethylase 6A exacerbates IEP mRNA:decreased expression:rectum (human) RGD PMID:33174323 RGD:150429730 NCBI chr  X:44,873,188...45,112,779
Ensembl chr  X:44,873,188...45,112,779 		JBrowse link
G SLC7A5 solute carrier family 7 member 5 treatment IEP RGD PMID:21036745 RGD:151361202 NCBI chr16:87,830,023...87,869,507
Ensembl chr16:87,830,016...87,869,507 		JBrowse link
G STAT3 signal transducer and activator of transcription 3 IAGP DNA:missense mutation:CDS: (rs2293152) (human) RGD PMID:22121102 RGD:153323313 NCBI chr17:42,313,324...42,388,442
Ensembl chr17:42,313,324...42,388,568 		JBrowse link
G STAT4 signal transducer and activator of transcription 4 IAGP DNA:SNP:intron: (rs3024861) (human) RGD PMID:22121102 RGD:153323313 NCBI chr 2:191,029,576...191,151,596
Ensembl chr 2:191,029,576...191,178,435 		JBrowse link
G STAT6 signal transducer and activator of transcription 6 IAGP DNA:SNP:intron: (rs3024979) (human) RGD PMID:22121102 RGD:153323313 NCBI chr12:57,095,408...57,111,362
Ensembl chr12:57,095,408...57,132,139 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 151455
    disease of anatomical entity 138485
      gastrointestinal system disease 21328
        intestinal disease 8745
          rectal disease 2793
            Colorectal Neoplasms 2283
              colorectal cancer 1245
                rectum cancer 67
                  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 151455
    disease of cellular proliferation 29501
      Neoplasms by Site 27640
        Digestive System Neoplasms 5414
          Gastrointestinal Neoplasms 5019
            Intestinal Neoplasms 2309
              intestinal cancer 1247
                large intestine cancer 1245
                  colorectal cancer 1245
                    rectum cancer 67
                      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