Activating GNAQ Gene Mutation

Preferred Label : Activating GNAQ Gene Mutation;

NCIt synonyms : Activating Guanine Nucleotide Binding Protein (G Protein), Q Polypeptide Gene Mutation; GNAQ Activating Gene Mutation; GNAQ Activating Mutation; Activating SWS Gene Mutation; Activating GAQ Gene Mutation; Activating CMC1 Gene Mutation; Activating G-ALPHA-q Gene Mutation; Activating G Protein Subunit Alpha q Gene Mutation; Activating GNAQ Mutation;

NCIt definition : A change in the nucleotide sequence of the GNAQ gene that that results in constitutive activation of both guanine nucleotide-binding protein G(q) subunit alpha and its downstream signaling pathways.;

NCI Metathesaurus CUI : CL1406506;

Details

Origin ID

C172377;

UMLS CUI

C5419623;

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
- GNAQ Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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