Deleterious CHEK2 Gene Mutation

Preferred Label : Deleterious CHEK2 Gene Mutation;

NCIt synonyms : Deleterious Checkpoint Kinase 2 Gene Mutation; Deleterious RAD53 Gene Mutation; Deleterious CHK2 Gene Mutation; Deleterious LFS2 Gene Mutation; Deleterious hCds1 Gene Mutation; Deleterious CHK2 Checkpoint Homolog (S. pombe) Gene Mutation; Deleterious CDS1 Gene Mutation;

NCIt definition : A change in the nucleotide sequence of the CHEK2 gene that is associated with increased risk of disease.;

NCI Metathesaurus CUI : CL522092;

Details

Origin ID

C134511;

UMLS CUI

C4525195;

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]
molecular_abnormality_involves_gene
- CHEK2 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients