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
Accession: DOID:1993
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 .
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
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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
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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
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
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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
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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
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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
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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
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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
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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
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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
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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
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Apc
APC, WNT signaling pathway regulator
ISO
ClinVar Annotator: match by term: Rectum adenocarcinoma
ClinVar
PMID:24033266 PMID:25741868 PMID:26467025 PMID:26530882 PMID:28195569 PMID:28492532 PMID:30111351 PMID:30833958 More...
NCBI chr18:34,353,350...34,455,243
Ensembl chr18:34,353,977...34,455,605
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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
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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
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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
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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
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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
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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
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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
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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
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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
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