Preferred Label : Activating JAK1 Gene Mutation;
NCIt synonyms : Gain of Function JAK1 Mutation; Gain of Function JAK1 Gene Mutation; Activating JTK3 Gene Mutation; JAK1 Activating Mutation; JAK1 Gain of Function Gene Mutation; Activating JAK1 Mutation; Activating Janus Kinase 1 Gene Mutation; JAK1 Gain of Function Mutation; JAK1 Activating Gene Mutation;
NCIt related terms : JAK1 GOF;
NCIt definition : A change in the nucleotide sequence of the JAK1 gene that that results in constitutive
activation of both tyrosine-protein kinase JAK1 and its downstream signaling pathways.
These mutations are involved in autoinflammation, immune dysregulation, and eosinophilia
(AIIDE).;
NCI Metathesaurus CUI : CL1642711;
Origin ID : C176671;
UMLS CUI : C5447362;
Semantic type(s)
- molecular_abnormality_involves_gene
