Inactivating POLD1 Gene Mutation

Preferred Label : Inactivating POLD1 Gene Mutation;

NCIt synonyms : POLD1 Inactivating Mutation; Inactivating CDC2 Gene Mutation; POLD1 Inactivating Gene Mutation; Loss of Function POLD1 Gene Mutation; Inactivating MDPL Gene Mutation; Inactivating POLD Gene Mutation; Inactivating DNA Polymerase Delta 1, Catalytic Subunit Gene Mutation; Inactivating POLD1 Mutation; Inactivating CRCS10 Gene Mutation; POLD1 Loss of Function Gene Mutation; POLD1 Loss of Function Mutation; Loss of Function POLD1 Mutation;

NCIt definition : A mutation in the POLD1 gene that either inhibits the expression or results in the translation of an inactive DNA polymerase delta catalytic subunit protein.;

NCI Metathesaurus CUI : CL1771610;

Details

Origin ID

C183348;

UMLS CUI

C5668329;

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]
- POLD1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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