Preferred Label : Deleterious CHEK1 Gene Mutation;
NCIt synonyms : Deleterious CHK1 Gene Mutation; Deleterious CHK1 Checkpoint Homolog (S. pombe) Gene Mutation; Deleterious Checkpoint Kinase 1 Gene Mutation;
NCIt definition : A change in the nucleotide sequence of the CHEK1 gene that is associated with increased
risk of disease.;
NCI Metathesaurus CUI : CL522093;
Origin ID : C134512;
UMLS CUI : C4525196;
- Semantic type(s)
- concept_is_in_subset
- molecular_abnormality_involves_gene