Activating PIK3R1 Gene Mutation

Preferred Label : Activating PIK3R1 Gene Mutation;

NCIt synonyms : PIK3R1 Activating Mutation; Activating GRB1 Gene Mutation; Activating p85-ALPHA Gene Mutation; Activating Phosphoinositide-3-Kinase Regulatory Subunit 1 Gene Mutation;

NCIt definition : A change in the nucleotide sequence of the PIK3R1 gene that that results in constitutive activation of phosphatidylinositol 3-kinase regulatory subunit alpha and its downstream signaling pathways.;

NCI Metathesaurus CUI : CL540109;

Details

Origin ID

C142117;

UMLS CUI

C4684422;

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
- PIK3R1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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