Deleterious NF2 Gene Mutation

Preferred Label : Deleterious NF2 Gene Mutation;

NCIt synonyms : Deleterious SCH Gene Mutation; Deleterious BANF Gene Mutation; Deleterious Merlin Gene Mutation; Deleterious Neurofibromin 2 Gene Mutation; Deleterious NF2 Mutation; Deleterious ACN Gene Mutation;

NCIt definition : A mutation in the NF2 gene that is associated with an increased risk of disease.;

NCI Metathesaurus CUI : CL1406485;

Details

Origin ID

C172354;

UMLS CUI

C5419601;

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
- NF2 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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