Inactivating MSH2 Gene Mutation

Preferred Label : Inactivating MSH2 Gene Mutation;

NCIt synonyms : hMSH2 Mismatch Repair Gene Inactivation; Loss of Function MutS, E. coli, Homolog of, 2 Gene Mutation; Loss of Function HNPCC1 Gene Mutation; Loss of Function MutS Homolog 2 Gene Mutation; MSH2 Gene Inactivation; MSH2 Loss of Function Gene Mutation; MSH2 Loss of Function Mutation; Loss of Function MSH2 Mutation; Loss of Function HNPCC Gene Mutation; Loss of Function COCA1 Gene Mutation; Inactivating MSH2 Mutation;

NCIt definition : A change in the nucleotide sequence of the MSH2 gene that either inhibits expression or results in the translation of an inactive DNA mismatch repair protein Msh2 protein.;

Details

Origin ID

C36697;

UMLS CUI

C1515643;

Molecular abnormality of diseases
- Pancreatic Medullary Carcinoma [NCIt concept]
- Turcot Syndrome Type 1 [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
- MSH2 Gene [NCIt concept]
- MSH2 wt Allele [NCIt concept]
is_molecular_abnormality_of_disease
- Lynch 1 Syndrome [NCIt concept]
molecular_abnormality_involves_gene
- DNA Repair Gene [NCIt concept]
- MSH2 Gene [NCIt concept]

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