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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 ISO mRNA:decreased expression:colon,rectum (human) RGD PMID:27982046 RGD:151361200 NCBI chr 5:93,415,432...93,424,090
Ensembl chr 5:93,415,116...93,424,090 		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 chr 6:125,073,144...125,107,554
Ensembl chr 6:125,072,944...125,107,554 		JBrowse link
G Cxcr4 C-X-C motif chemokine receptor 4 exacerbates ISO protein:increased expression:rectum (human) RGD PMID:24375277 RGD:152023614 NCBI chr 1:128,515,936...128,520,036
Ensembl chr 1:128,515,936...128,520,030 		JBrowse link
G Cyp24a1 cytochrome P450, family 24, subfamily a, polypeptide 1 susceptibility ISO DNA:SNP:intron: (rs6022999) (human) RGD PMID:31740231 RGD:151665338 NCBI chr 2:170,324,877...170,339,065
Ensembl chr 2:170,324,628...170,339,065 		JBrowse link
G Gpx3 glutathione peroxidase 3 susceptibility ISO DNA:SNPs: (rs3828599, rs736775, rs8177447) (human) RGD PMID:22371331 RGD:151665750 NCBI chr11:54,793,680...54,801,213
Ensembl chr11:54,793,279...54,801,203 		JBrowse link
G Il6 interleukin 6 treatment ISO RGD PMID:28272402 RGD:14975288 NCBI chr 5:30,218,112...30,224,973
Ensembl chr 5:30,218,112...30,224,979 		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:23859041 PMID:23027623 RGD:150573807, RGD:13217411 NCBI chr13:111,882,962...111,954,803
Ensembl chr13:111,882,962...111,945,527 		JBrowse link
G Mapk14 mitogen-activated protein kinase 14 susceptibility ISO DNA:SNPs:introns: (rs851011, rs851006) (human) RGD PMID:23859041 RGD:150573807 NCBI chr17:28,910,316...28,967,379
Ensembl chr17:28,910,303...28,967,380 		JBrowse link
G Mir20a microRNA 20a ISO RGD PMID:30277504 RGD:25823152 NCBI chr14:115,281,589...115,281,695
Ensembl chr14:115,281,589...115,281,695 		JBrowse link
G Mre11a MRE11A homolog A, double strand break repair nuclease susceptibility ISO DNA:SNP:3'utr: (rs2155209) (human) RGD PMID:26735576 RGD:151361212 NCBI chr 9:14,695,971...14,748,421
Ensembl chr 9:14,695,950...14,748,419 		JBrowse link
G Nbn nibrin susceptibility ISO DNA:SNP:3'utr: (rs14448) (human) RGD PMID:26735576 RGD:151361212 NCBI chr 4:15,955,388...15,992,589
Ensembl chr 4:15,957,925...15,992,589 		JBrowse link
G Xrcc5 X-ray repair complementing defective repair in Chinese hamster cells 5 susceptibility ISO DNA:SNP:3'utr: (rs1051677) (human) RGD PMID:26735576 RGD:151361212 NCBI chr 1:72,346,576...72,434,112
Ensembl chr 1:72,346,586...72,434,111 		JBrowse link
rectum adenocarcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apc APC, WNT signaling pathway regulator ISO ClinVar Annotator: match by term: Rectum adenocarcinoma ClinVar PMID:24033266 PMID:25741868 PMID:26530882 PMID:28195569 PMID:28492532 More... NCBI chr18:34,353,350...34,455,243
Ensembl chr18:34,353,977...34,455,605 		JBrowse link
G Birc2 baculoviral IAP repeat-containing 2 disease_progression ISO mRNA:increased expression:rectum (human) RGD PMID:31964418 RGD:153344516 NCBI chr 9:7,818,227...7,837,123
Ensembl chr 9:7,818,228...7,837,065 		JBrowse link
G Birc3 baculoviral IAP repeat-containing 3 ameliorates ISO mRNA:increased expression:rectum (human) RGD PMID:31964418 RGD:153344516 NCBI chr 9:7,848,698...7,873,199
Ensembl chr 9:7,848,700...7,873,187 		JBrowse link
G Chd4 chromodomain helicase DNA binding protein 4 ISO mRNA:increased expression:rectum (human) RGD PMID:28486105 RGD:153323299 NCBI chr 6:125,073,144...125,107,554
Ensembl chr 6:125,072,944...125,107,554 		JBrowse link
G Eef2 eukaryotic translation elongation factor 2 ISO protein:increased expression:rectum (human) RGD PMID:19360331 RGD:153298969 NCBI chr10:81,012,465...81,018,343
Ensembl chr10:81,012,465...81,018,332 		JBrowse link
G Kdm6a lysine (K)-specific demethylase 6A exacerbates ISO mRNA:decreased expression:rectum (human) RGD PMID:33174323 RGD:150429730 NCBI chr  X:18,027,101...18,147,061
Ensembl chr  X:18,028,814...18,146,175 		JBrowse link
G Slc7a5 solute carrier family 7 (cationic amino acid transporter, y+ system), member 5 treatment ISO RGD PMID:21036745 RGD:151361202 NCBI chr 8:122,607,885...122,634,425
Ensembl chr 8:122,607,889...122,634,433 		JBrowse link
G Stat3 signal transducer and activator of transcription 3 ISO DNA:missense mutation:CDS: (rs2293152) (human) RGD PMID:22121102 RGD:153323313 NCBI chr11:100,777,632...100,830,447
Ensembl chr11:100,775,924...100,830,366 		JBrowse link
G Stat4 signal transducer and activator of transcription 4 ISO DNA:SNP:intron: (rs3024861) (human) RGD PMID:22121102 RGD:153323313 NCBI chr 1:52,026,265...52,146,348
Ensembl chr 1:52,026,307...52,146,348 		JBrowse link
G Stat6 signal transducer and activator of transcription 6 ISO DNA:SNP:intron: (rs3024979) (human) RGD PMID:22121102 RGD:153323313 NCBI chr10:127,478,855...127,496,856
Ensembl chr10:127,478,855...127,496,826 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18301
    disease of anatomical entity 15631
      gastrointestinal system disease 6748
        intestinal disease 3036
          rectal disease 2047
            Colorectal Neoplasms 1788
              colorectal cancer 1013
                rectum cancer 21
                  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 18301
    disease of cellular proliferation 7493
      Neoplasms by Site 6949
        Digestive System Neoplasms 3823
          Gastrointestinal Neoplasms 3697
            Intestinal Neoplasms 1807
              intestinal cancer 1015
                large intestine cancer 1013
                  colorectal cancer 1013
                    rectum cancer 21
                      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