Inactivating Mismatch Repair Gene Mutation

Preferred Label : Inactivating Mismatch Repair Gene Mutation;

NCIt synonyms : Inactivating MMR Mutation; Mismatch Repair Gene Inactivation; Inactivating MMR Gene Mutation; Loss of Function Mismatch Repair Gene Mutation; Loss of Function Mismatch Repair Mutation;

NCIt definition : A change in the nucleotide sequence of a gene that either inhibits expression or results in the translation of an inactive DNA mismatch repair protein.;

Details

Origin ID

C36699;

UMLS CUI

C1513331;

Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
is_not_molecular_abnormality_of_disease
- Hereditary Colorectal Cancer Type X [NCIt concept]
molecular_abnormality_involves_gene
- DNA Repair Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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