Deleterious MSH2 Gene Mutation

Preferred Label : Deleterious MSH2 Gene Mutation;

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

NCIt definition : A change in the nucleotide sequence of the MSH2 gene that is associated with increased risk of disease.;

NCI Metathesaurus CUI : CL514579;

Details

Origin ID

C131777;

UMLS CUI

C4318459;

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]
gene_mutant_encodes_gene_product_sequence_variation
- 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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