Inactivating PMS2 Gene Mutation

Preferred Label : Inactivating PMS2 Gene Mutation;

NCIt synonyms : PMS2 Mismatch Repair Gene Inactivation; PMS2 Gene Inactivation; Loss of Function PMS1 Homolog 2, Mismatch Repair System Component Gene Mutation; Loss of Function MLH4 Gene Mutation; Loss of Function PMS2 Gene Mutation; PMS2 Loss of Function Gene Mutation; Loss of Function PMS2CL Gene Mutation; Loss of Function PMSL2 Gene Mutation; Loss of Function PMS2 Mutation; Loss of Function HNPCC4 Gene Mutation; PMS2 Loss of Function Mutation; Loss of Function Postmeiotic Segregation Increased 2 Gene Mutation;

NCIt definition : A change in the nucleotide sequence of the PMS2 gene that either inhibits expression or results in the translation of an inactive mismatch repair endonuclease PMS2 protein.;

Details

Origin ID

C36703;

UMLS CUI

C1518800;

Molecular abnormality of diseases
- Lynch 1 Syndrome [NCIt concept]
- Lynch 2 Syndrome [NCIt concept]
- Lynch Syndrome [NCIt concept]
- Turcot Syndrome Type 1 [NCIt concept]
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]
is_abnormality_of_gene
- PMS2 Gene [NCIt concept]
- PMS2 wt Allele [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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