Activating NOTCH3 Mutation

Preferred Label : Activating NOTCH3 Mutation;

NCIt synonyms : Activating Notch 3 Gene Mutation; Activating Notch (Drosophila) Homolog 3 Gene Mutation; Activating IMF2 Gene Mutation; NOTCH3 Activating Mutation; Activating CASIL Gene Mutation; Activating CADASIL Gene Mutation; Activating NOTCH3 Gene Mutation; NOTCH3 Activating Gene Mutation; Activating Notch Homolog 3 Gene Mutation;

NCIt definition : A change in the nucleotide sequence of the NOTCH3 gene that that results in constitutive activation of both neurogenic locus notch homolog protein 3 and its downstream signaling pathways.;

NCI Metathesaurus CUI : CL937579;

Details

Origin ID

C158058;

UMLS CUI

C4764018;

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
- NOTCH3 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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