Deleterious MLH1 Gene Mutation

Preferred Label : Deleterious MLH1 Gene Mutation;

NCIt synonyms : Deleterious HNPCC2 Gene Mutation; Deleterious MutL Homolog 1 Gene Mutation; Deleterious COCA2 Gene Mutation; Deleterious MutL, E. coli, Homolog of, 1 Gene Mutation;

NCIt definition : A change in the nucleotide sequence of the MLH1 gene that is associated with increased risk of disease.;

NCI Metathesaurus CUI : CL514578;

Details

Origin ID

C131779;

UMLS CUI

C4321420;

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]
- MLH1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients