Inactivating MSH6 Gene Mutation

Preferred Label : Inactivating MSH6 Gene Mutation;

NCIt synonyms : hMSH6 Mismatch Repair Gene Inactivation; Loss of Function HNPCC5 Gene Mutation; MSH6 Gene Inactivation; MSH6 Loss of Function Gene Mutation; MSH6 Loss of Function Mutation; Loss of Function MutS, E. coli, Homolog of, 6 Gene Mutation; Loss of Function MSH6 Gene Mutation; Loss of Function MSH6 Mutation; Loss of Function MutS Homolog 6 Gene Mutation; Inactivating MSH6 Mutation;

NCIt definition : A change in the nucleotide sequence of the MSH6 gene that either inhibits expression or results in the translation of an inactive DNA mismatch repair protein Msh6 protein.;

Details

Origin ID

C36701;

UMLS CUI

C1515644;

Molecular abnormality of diseases
- Lynch 1 Syndrome [NCIt concept]
- Lynch 2 Syndrome [NCIt concept]
- Lynch Syndrome [NCIt concept]
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]
is_abnormality_of_gene
- MSH6 Gene [NCIt concept]
- MSH6 wt Allele [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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