MSH2 Gene Mutation

Preferred Label : MSH2 Gene Mutation;

NCIt synonyms : MSH2 Mutation; HNPCC1 Gene Mutation; COCA1 Gene Mutation; MutS, E. coli, Homolog of, 2 Gene Mutation; HNPCC Gene Mutation; MutS Homolog 2 Gene Mutation;

NCIt definition : A change in the nucleotide sequence of the MSH2 gene.;

NCI Metathesaurus CUI : CL508629;

Details

Origin ID

C128821;

UMLS CUI

C4283807;

Automatic exact mappings (from CISMeF team)
- MSH2 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)
- MSH2 mutation [MedDRA LLT]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_mutant_encodes_gene_product_sequence_variation
- MSH2 NP_000242.1:p.A636P [NCIt concept]
- MSH2 Protein Variant [NCIt concept]
molecular_abnormality_involves_gene
- DNA Repair Gene [NCIt concept]
- MSH2 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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