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;
Origin ID : C142117;
UMLS CUI : C4684422;
- Semantic type(s)
- concept_is_in_subset
- molecular_abnormality_involves_gene