MSH6 Gene Mutation

Preferred Label : MSH6 Gene Mutation;

NCIt synonyms : MutS Homolog 6 Gene Mutation; HNPCC5 Gene Mutation; MutS, E. coli, Homolog of, 6 Gene Mutation;

NCIt related terms : MSH6 Mutation;

NCIt definition : A change in the nucleotide sequence of the MSH6 gene.;

Details

Origin ID

C118395;

UMLS CUI

C3898500;

Automatic exact mappings (from CISMeF team)
- MSH6 mutation [MedDRA LLT]
Molecular abnormality of diseases
- Constitutional Mismatch Repair Deficiency Syndrome [NCIt concept]
Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
UMLS correspondences (same concept)
- MSH6 mutation [MedDRA LLT]
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]
- MSH6 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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