Activating PIK3CB Gene Mutation

Preferred Label : Activating PIK3CB Gene Mutation;

NCIt synonyms : P110BETA Activating Gene Mutation; PIK3C1 Activating Gene Mutation; PIK3CB Gain; PIK3CB Gain of Function; Phosphatidylinositol-4,5-Bisphosphate 3-Kinase Catalytic Subunit Beta Activating Gene Mutation; PI3KBETA Activating Gene Mutation; PIK3CB Activating Gene Mutation; p110-Beta Activating Gene Mutation; PIK3CB Gain of Function Mutation; PIK3CB Activating Mutation;

NCIt definition : A change in the nucleotide sequence of the PIK3CB gene that results in constitutive activation of phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit beta isoform and its downstream signaling pathways.;

NCI Metathesaurus CUI : CL554835;

Details

Origin ID

C153395;

UMLS CUI

C4724211;

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
- PIK3CB Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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