Activating IRAK1 Gene Mutation

Preferred Label : Activating IRAK1 Gene Mutation;

NCIt synonyms : Activating Interleukin-1 Receptor-Associated Kinase 1 Gene Mutation; Activating Interleukin 1 Receptor Associated Kinase 1 Gene Mutation; Activating pelle Gene Mutation; IRAK1 Activating Mutation; Activating IRAK Gene Mutation; Activating IRAK1 Mutation; IRAK1 Activating Gene Mutation;

NCIt definition : A change in the nucleotide sequence of the IRAK1 gene that results in constitutive activation of both interleukin-1 receptor-associated kinase 1 protein and its downstream signaling pathways.;

NCI Metathesaurus CUI : CL937265;

Details

Origin ID

C157595;

UMLS CUI

C4763730;

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
- IRAK1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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