Deleterious Homologous Recombination Pathway Gene Mutation

Preferred Label : Deleterious Homologous Recombination Pathway Gene Mutation;

NCIt synonyms : Deleterious HHR Gene Mutation; Deleterious Recombination Repair Gene Mutation; Deleterious Homologous Recombination Pathway Mutation;

NCIt definition : A change in the nucleotide sequence of a gene involved in homologous recombination-type DNA repair processes that is associated with increased risk of disease.;

NCI Metathesaurus CUI : CL539324;

Details

Origin ID

C141248;

UMLS CUI

C4683655;

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]
- Homologous Recombination Repair Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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