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GENE - TERM ANNOTATION REPORT

RGD ID: 1348983
Species: Homo sapiens
RGD Object: Gene
Symbol: POLE
Name: DNA polymerase epsilon, catalytic subunit
Acc ID: DOID:9008443
Term: Colorectal Neoplasms
Definition: Tumors or cancer of the COLON or the RECTUM or both. Risk factors for colorectal cancer include chronic ULCERATIVE COLITIS; FAMILIAL POLYPOSIS COLI; exposure to ASBESTOS; and irradiation of the CERVIX UTERI.
Definition Source(s): MESH:D015179
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
Object SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
POLE IAGP 151347647RGDDNA:missense mutation:CDS, exon9:p.E277G, c.830A (human) 
POLE EXP 11554173CTDCTD Direct Evidence: marker/mechanismPMID:23263490 PMID:26053496
POLE IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Colorectal NeoplasmsPMID:26619011 PMID:28492532 PMID:32424176
POLE IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Colorectal NeoplasmsPMID:25228659 PMID:26619011 PMID:27573199 PMID:28492532 PMID:29352080
POLE IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Colorectal NeoplasmsPMID:26619011
POLE IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Colorectal NeoplasmsPMID:23263490 PMID:23447401 PMID:24525744 PMID:24844595 PMID:25224212 PMID:25228659 PMID:26619011 PMID:28492532
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