Deleterious Inactivating NF1 Gene Mutation

Preferred Label : Deleterious Inactivating NF1 Gene Mutation;

NCIt synonyms : Deleterious Inactivating Neurofibromin 1 Gene Mutation; Deleterious Inactivating NF1 Mutation; Deleterious Inactivating NFNS Gene Mutation; Deleterious NF1 Gene Inactivation;

NCIt definition : A mutation in the NF1 gene that is associated with an increased risk of disease and either inhibits expression or results in the translation of an inactive NF1 protein.;

NCI Metathesaurus CUI : CL1406504;

Details

Origin ID

C172375;

UMLS CUI

C5419621;

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
- NF1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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