Activating PIK3CA Gene Mutation

Preferred Label : Activating PIK3CA Gene Mutation;

NCIt synonyms : Activating Phosphatidylinositol-4,5-Bisphosphate 3-Kinase Catalytic Subunit Alpha Gene Mutation; Activating PI3KCA Gene Mutation; Activating p110-alpha Gene Mutation; PIK3CA Activating Mutation; Activating PI3K-Alpha Gene Mutation; PIK3CA Activation Mutation; PIK3CA Gain of Function Mutation; PIK3CA Gain of Function Gene Mutation;

NCIt definition : A change in the nucleotide sequence of the PIK3CA gene that results in constitutive activation of phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform and its downstream signaling pathways.;

NCI Metathesaurus CUI : CL540110;

Détails

Origin ID

C142116;

UMLS CUI

C4684421;

Currated CISMeF NLP mapping
- PIK3CA-activated mutation [MedDRA Preferred Term]
Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
UMLS correspondences (same concept)
- PIK3CA-activated mutation [MedDRA Preferred Term]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_mutant_encodes_gene_product_sequence_variation
- PIK3CA Protein Variant [NCIt concept]
molecular_abnormality_involves_gene
- PIK3CA Gene [NCIt concept]

Position du mot-clé dans l'(les) arborescence(s) :

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