PMS1 Gene Mutation

Preferred Label : PMS1 Gene Mutation;

NCIt synonyms : Postmeiotic Segregation Increased 1 Gene Mutation; PMS1 Mutation; PMSL1 Gene Mutation; Postmeiotic Segregation Increased (S. cerevisiae) 1 Gene Mutation; HNPCC3 Gene Mutation; MLH2 Gene Mutation;

NCIt definition : A change in the nucleotide sequence of the PMS1 gene.;

NCI Metathesaurus CUI : CL508634;

Details

Origin ID

C128822;

UMLS CUI

C4283806;

Automatic exact mappings (from CISMeF team)
- PMS1 mutation [MedDRA LLT]
Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
UMLS correspondences (same concept)
- PMS1 mutation [MedDRA LLT]
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]
- PMS1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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