Activating NOTCH4 Mutation

Preferred Label : Activating NOTCH4 Mutation;

NCIt synonyms : Activating Notch 4 Gene Mutation; NOTCH4 Activating Mutation; Activating NOTCH4 Gene Mutation; Activating INT3 Gene Mutation; NOTCH4 Activating Gene Mutation; Activating Notch Homolog 4 Gene Mutation;

NCIt definition : A change in the nucleotide sequence of the NOTCH4 gene that that results in constitutive activation of both neurogenic locus notch homolog protein 4 and its downstream signaling pathways.;

NCI Metathesaurus CUI : CL937575;

Details

Origin ID

C158062;

UMLS CUI

C4764020;

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
- NOTCH4 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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