Deleterious RECQL Gene Mutation

Preferred Label : Deleterious RECQL Gene Mutation;

NCIt synonyms : RECQL Driver Mutation; Deleterious RecQ1 Gene Mutation; Deleterious RECQL1 Gene Mutation; Deleterious RECQL Mutation; Deleterious RecQ Like Helicase Gene Mutation;

NCIt definition : A change in the nucleotide sequence of the RECQL gene that is associated with increased risk of disease.;

NCI Metathesaurus CUI : CL1663533;

Details

Origin ID

C180974;

UMLS CUI

C5556762;

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
- RECQL Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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