Deleterious TSC2 Gene Mutation

Preferred Label : Deleterious TSC2 Gene Mutation;

NCIt synonyms : Deleterious Tuberous Sclerosis 2 Gene Mutation; Deleterious Tuberin Gene Mutation; Deleterious TSC2 Mutation;

NCIt definition : A mutation in the TSC2 gene that is associated with an increased risk of disease.;

NCI Metathesaurus CUI : CL1406490;

Details

Origin ID

C172357;

UMLS CUI

C5419604;

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
- TSC2 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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