POLE Gene Mutation

Preferred Label : POLE Gene Mutation;

NCIt synonyms : DNA Polymerase Epsilon, Catalytic Subunit Exonuclease Gene Mutation; DNA Polymerase Epsilon Catalytic Subunit A Exonuclease Gene Mutation; POLE1 Gene Mutation;

NCIt definition : A change in the nucleotide sequence of the POLE gene.;

NCI Metathesaurus CUI : CL514540;

Details

Origin ID

C131797;

UMLS CUI

C4330921;

Molecular abnormality of diseases
- Hypermutated Colorectal Carcinoma [NCIt concept]
- Polymerase Proofreading Associated Polyposis [NCIt concept]
Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Disease Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
is_molecular_abnormality_of_disease
- POLE-Ultramutated Endometrial Endometrioid Adenocarcinoma [NCIt concept]
is_not_molecular_abnormality_of_disease
- No Specific Molecular Profile Endometrial Endometrioid Adenocarcinoma [NCIt concept]
molecular_abnormality_involves_gene
- DNA Repair Gene [NCIt concept]
- POLE Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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