Activating NOTCH2 Mutation

Preferred Label : Activating NOTCH2 Mutation;

NCIt synonyms : Activating Notch 2 Gene Mutation; Activating hN2 Gene Mutation; Activating Notch (Drosophila) Homolog 2 Gene Mutation; NOTCH2 Activating Mutation; Activating NOTCH2 Gene Mutation; Activating HJCYS Gene Mutation; Activating AGS2 Gene Mutation; Activating Notch Homolog 2 Gene Mutation; NOTCH2 Activating Gene Mutation;

NCIt definition : A change in the nucleotide sequence of the NOTCH2 gene that results in constitutive activation of both neurogenic locus notch homolog protein 2 and its downstream signaling pathways.;

NCI Metathesaurus CUI : CL937576;

Details

Origin ID

C158059;

UMLS CUI

C4764019;

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
- NOTCH2 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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