Deleterious POLE Gene Mutation

Preferred Label : Deleterious POLE Gene Mutation;

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

NCIt definition : A change in the nucleotide sequence of the POLE gene that is associated with increased risk of disease.;

NCI Metathesaurus CUI : CL1382876;

Details

Origin ID

C170410;

UMLS CUI

C5418547;

Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [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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