Deleterious GEN1 Gene Mutation

Preferred Label : Deleterious GEN1 Gene Mutation;

NCIt synonyms : Deleterious Gen Gene Mutation; Deleterious GEN1 Holliday Junction 5' Flap Endonuclease Gene Mutation; Deleterious Gen Homolog 1, Endonuclease Gene Mutation;

NCIt definition : A change in the nucleotide sequence of the GEN1 gene that is associated with increased risk of disease.;

NCI Metathesaurus CUI : CL562761;

Details

Origin ID

C156010;

UMLS CUI

C4744506;

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]
- GEN1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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