Deleterious PMS2 Gene Mutation

Preferred Label : Deleterious PMS2 Gene Mutation;

NCIt synonyms : Deleterious PMS2CL Gene Mutation; Deleterious PMS1 Homolog 2, Mismatch Repair System Component Gene Mutation; Deleterious HNPCC4 Gene Mutation; Deleterious MLH4 Gene Mutation; Deleterious Postmeiotic Segregation Increased 2 Gene Mutation; Deleterious PMSL2 Gene Mutation; Deleterious Postmeiotic Segregation Increased (S. cerevisiae) 2 Gene Mutation;

NCIt definition : A change in the nucleotide sequence of the PMS2 gene that is associated with increased risk of disease.;

NCI Metathesaurus CUI : CL514631;

Details

Origin ID

C131780;

UMLS CUI

C4329710;

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]
molecular_abnormality_involves_gene
- DNA Repair Gene [NCIt concept]
- PMS2 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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