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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 chr 7:25,657,548...25,667,464
Ensembl chr 7:25,657,441...25,666,254 		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 chr11:6,603,820...6,641,278
Ensembl chr11:6,602,694...6,640,351 		JBrowse link
G CXCR4 C-X-C motif chemokine receptor 4 exacerbates ISO protein:increased expression:rectum (human) RGD PMID:24375277 RGD:152023614 NCBI chr10:20,336,470...20,340,308
Ensembl chr10:20,336,247...20,340,309 		JBrowse link
G CYP24A1 cytochrome P450 family 24 subfamily A member 1 susceptibility ISO DNA:SNP:intron: (rs6022999) (human) RGD PMID:31740231 RGD:151665338 NCBI chr 2:9,868,794...9,889,510
Ensembl chr 2:9,868,678...9,885,884 		JBrowse link
G GPX3 glutathione peroxidase 3 susceptibility ISO DNA:SNPs: (rs3828599, rs736775, rs8177447) (human) RGD PMID:22371331 RGD:151665750 NCBI chr23:53,576,950...53,585,321 JBrowse link
G IL6 interleukin 6 treatment ISO RGD PMID:28272402 RGD:14975288 NCBI chr21:35,577,513...35,582,385
Ensembl chr21:35,577,939...35,582,237 		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 chr 4:53,040,731...53,120,784
Ensembl chr 4:53,084,023...53,120,772 		JBrowse link
G MAPK14 mitogen-activated protein kinase 14 susceptibility ISO DNA:SNPs:introns: (rs851011, rs851006) (human) RGD PMID:23859041 RGD:150573807 NCBI chr17:36,012,164...36,095,542
Ensembl chr17:36,014,454...36,095,138 		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 chr 1:85,615,448...85,694,247
Ensembl chr 1:85,610,819...85,694,269 		JBrowse link
G NBN nibrin susceptibility ISO DNA:SNP:3'utr: (rs14448) (human) RGD PMID:26735576 RGD:151361212 NCBI chr 8:85,017,807...85,069,219
Ensembl chr 8:85,015,752...85,069,028 		JBrowse link
G XRCC5 X-ray repair cross complementing 5 susceptibility ISO DNA:SNP:3'utr: (rs1051677) (human) RGD PMID:26735576 RGD:151361212 NCBI chr10:101,952,909...102,051,059
Ensembl chr10:101,953,067...102,049,964 		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 chr23:15,992,437...16,135,117
Ensembl chr23:16,042,287...16,137,067 		JBrowse link
G BIRC2 baculoviral IAP repeat containing 2 disease_progression ISO mRNA:increased expression:rectum (human) RGD PMID:31964418 RGD:153344516 NCBI chr 1:93,721,449...93,746,638 JBrowse link
G BIRC3 baculoviral IAP repeat containing 3 ameliorates ISO mRNA:increased expression:rectum (human) RGD PMID:31964418 RGD:153344516 NCBI chr 1:93,692,239...93,711,905 JBrowse link
G CHD4 chromodomain helicase DNA binding protein 4 ISO mRNA:increased expression:rectum (human) RGD PMID:28486105 RGD:153323299 NCBI chr11:6,603,820...6,641,278
Ensembl chr11:6,602,694...6,640,351 		JBrowse link
G EEF2 eukaryotic translation elongation factor 2 ISO protein:increased expression:rectum (human) RGD PMID:19360331 RGD:153298969 NCBI chr 6:3,733,056...3,742,526
Ensembl chr 6:3,732,425...3,742,826 		JBrowse link
G KDM6A lysine demethylase 6A exacerbates ISO mRNA:decreased expression:rectum (human) RGD PMID:33174323 RGD:150429730 NCBI chr  X:42,053,272...42,291,013
Ensembl chr  X:42,053,336...42,290,526 		JBrowse link
G SLC7A5 solute carrier family 7 member 5 treatment ISO RGD PMID:21036745 RGD:151361202 NCBI chr 5:73,229,953...73,269,801
Ensembl chr 5:73,229,951...73,269,754 		JBrowse link
G STAT3 signal transducer and activator of transcription 3 ISO DNA:missense mutation:CDS: (rs2293152) (human) RGD PMID:22121102 RGD:153323313 NCBI chr16:63,877,884...63,957,894
Ensembl chr16:63,922,862...63,957,984 		JBrowse link
G STAT4 signal transducer and activator of transcription 4 ISO DNA:SNP:intron: (rs3024861) (human) RGD PMID:22121102 RGD:153323313 NCBI chr10:76,553,626...76,708,540
Ensembl chr10:76,553,606...76,674,928 		JBrowse link
G STAT6 signal transducer and activator of transcription 6 ISO DNA:SNP:intron: (rs3024979) (human) RGD PMID:22121102 RGD:153323313 NCBI chr11:53,005,378...53,020,899
Ensembl chr11:53,006,145...53,021,203 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15420
    disease of anatomical entity 15083
      gastrointestinal system disease 6470
        intestinal disease 2887
          rectal disease 1914
            Colorectal Neoplasms 1660
              colorectal cancer 931
                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 15420
    disease of cellular proliferation 7320
      Neoplasms by Site 6783
        Digestive System Neoplasms 3622
          Gastrointestinal Neoplasms 3505
            Intestinal Neoplasms 1678
              intestinal cancer 932
                large intestine cancer 931
                  colorectal cancer 931
                    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