Activating MTOR Gene Mutation

Preferred Label : Activating MTOR Gene Mutation;

NCIt synonyms : Activating FK506 Binding Protein 12-Rapamycin Associated Protein 1 Gene Mutation; Activating FRAP1 Gene Mutation; Activating Mammalian Target of Rapamycin Gene Mutation; Activating FRAP Gene Mutation; Activating Mechanistic Target of Rapamycin Gene Mutation; MTOR Activating Mutation; Activating Rapamycin and FKBP12 Target 1 Gene Mutation;

NCIt definition : A change in the nucleotide sequence of the MTOR gene that results in constitutive activation of serine/threonine-protein kinase mTOR and its downstream signaling pathways.;

NCI Metathesaurus CUI : CL540125;

Details

Origin ID

C142101;

UMLS CUI

C4684407;

Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Disease Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
molecular_abnormality_involves_gene
- MTOR Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients