Activating PTEN Gene Mutation

Preferred Label : Activating PTEN Gene Mutation;

NCIt synonyms : Activating MMAC1 Gene Mutation; Activating TEP1 Gene Mutation; Activating Phosphatase and Tensin Homolog Gene Mutation; PTEN Activating Gene Mutation; Activating Mutated in Multiple Advanced Cancers 1 Gene Mutation; PTEN Activating Mutation; Activating PTEN1 Gene Mutation;

NCIt definition : A change in the nucleotide sequence of the PTEN gene that that results in constitutive activation of both phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase PTEN and its downstream signaling pathways.;

NCI Metathesaurus CUI : CL937281;

Details

Origin ID

C157580;

UMLS CUI

C4763716;

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
- PTEN Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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