Activating TYK2 Gene Mutation

Preferred Label : Activating TYK2 Gene Mutation;

NCIt synonyms : Activating TYK2 Mutation; TKY2 Activating Gene Mutation; Activating JTK1 Gene Mutation; TYK2 Activating Mutation; Activating Tyrosine Kinase 2 Gene Mutation;

NCIt definition : A change in the nucleotide sequence of the TYK2 gene that that results in constitutive activation of both non-receptor tyrosine-protein kinase TYK2 protein and its downstream signaling pathways.;

NCI Metathesaurus CUI : CL937266;

Details

Origin ID

C157596;

UMLS CUI

C4763731;

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
- TYK2 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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