Inactivating PMS1 Gene Mutation

Preferred Label : Inactivating PMS1 Gene Mutation;

NCIt synonyms : PMS1 Mismatch Repair Gene Inactivation; Inactivating MLH2 Gene Mutation; Loss of Function PMS1 Gene Mutation; Loss of Function PMS1 Mutation; Inactivating PMSL1 Gene Mutation; Inactivating PMS1 Mutation; PMS1 Gene Inactivation; Inactivating HNPCC3 Gene Mutation; Inactivating PMS1 Homolog 1, Mismatch Repair System Component Gene Mutation;

NCIt definition : A change in the nucleotide sequence of the PMS1 gene that either inhibits expression or results in the translation of an inactive PMS1 protein homolog 1 protein.;

Details

Origin ID

C36702;

UMLS CUI

C1518799;

Molecular abnormality of diseases
- Lynch 1 Syndrome [NCIt concept]
- Lynch 2 Syndrome [NCIt concept]
- Lynch Syndrome [NCIt concept]
Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
molecular_abnormality_involves_gene
- DNA Repair Gene [NCIt concept]
- PMS1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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