CHEK2 Gene Mutation

Preferred Label : CHEK2 Gene Mutation;

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

NCIt definition : A change in the nucleotide sequence of the CHEK2 gene.;

Details

Origin ID

C40458;

UMLS CUI

C1511442;

Automatic exact mappings (from CISMeF team)
- CHEK2 gene mutation [MedDRA LLT]
- Checkpoint kinase 2 gene mutation [MedDRA Preferred Term]
Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
UMLS correspondences (same concept)
- CHEK2 gene mutation [MedDRA LLT]
- Checkpoint kinase 2 gene mutation [MedDRA Preferred Term]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
is_abnormality_of_gene
- CHEK2 Gene [NCIt concept]
- CHEK2 wt Allele [NCIt concept]
is_molecular_abnormality_of_disease
- CHEK2-Associated Li-Fraumeni-Like Syndrome [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