PMS2 Gene Mutation

Preferred Label : PMS2 Gene Mutation;

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

NCIt related terms : PMS2 Mutation;

NCIt definition : A change in the nucleotide sequence of the PMS2 gene.;

Details

Origin ID

C118397;

UMLS CUI

C3898042;

Automatic exact mappings (from CISMeF team)
- PMS2 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)
- PMS2 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]
- PMS2 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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