Inactivating WRN Gene Mutation

Preferred Label : Inactivating WRN Gene Mutation;

NCIt synonyms : WRN Inactivating Gene Mutation; WRN Loss of Function Mutation; WRN Gene Inactivation; Inactivating RECQ3 Gene Mutation; Inactivating WRN Mutation; Inactivating Werner Syndrome Gene Mutation; WRN Loss of Function Gene Mutation; Inactivating RECQL2 Gene Mutation; WRN Inactivating Mutation; Inactivating RECQL3 Gene Mutation;

NCIt definition : A change in the nucleotide sequence of the WRN gene that either inhibits expression or results in the translation of an inactive Werner syndrome ATP-dependent helicase protein.;

NCI Metathesaurus CUI : CL1661939;

Details

Origin ID

C179363;

UMLS CUI

C5552922;

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
- WRN Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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