Activating STAT1 Gene Mutation

Preferred Label : Activating STAT1 Gene Mutation;

NCIt synonyms : STAT1 Gain of Function; STAT1 Activating Mutation; STAT1 Activating Gene Mutation; STAT1 Gain of Function Gene Mutation; Activating STAT1 Mutation; STAT1 Gain of Function Mutation;

NCIt related terms : STAT-1 GOF;

NCIt definition : A mutation in the STAT1 gene that results in an increase in cytokine-related functions associated with IFN-alpha/beta, IFN-gamma, IFN-delta, and IL-27. STAT1 mutations of this type are associated with autosomal dominant immunodeficiency 31C.;

NCI Metathesaurus CUI : CL504908;

Details

Origin ID

C126346;

UMLS CUI

C4288262;

Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
molecular_abnormality_involves_gene
- STAT1 Gene [NCIt concept]
- Signal Transducer and Activator of Transcription Family Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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