Activating PIK3R2 Gene Mutation

Preferred Label : Activating PIK3R2 Gene Mutation;

NCIt synonyms : Activating p85-BETA Gene Mutation; PIK3R2 Activating Mutation; Activating Phosphoinositide-3-Kinase Regulatory Subunit 2 Gene Mutation; Activating P85B Gene Mutation;

NCIt definition : A change in the nucleotide sequence of the PIK3R2 gene that that results in constitutive activation of phosphatidylinositol 3-kinase regulatory subunit beta and its downstream signaling pathways.;

NCI Metathesaurus CUI : CL540199;

Details

Origin ID

C142118;

UMLS CUI

C4684423;

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
- PIK3R2 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients