Deleterious TSC1 Gene Mutation

Preferred Label : Deleterious TSC1 Gene Mutation;

NCIt synonyms : Deleterious Tuberous Sclerosis 1 Gene Mutation; Deleterious Hamartin Gene Mutation; Deleterious TSC Gene Mutation; Deleterious TSC1 Mutation;

NCIt definition : A mutation in the TSC1 gene that is associated with an increased risk of disease.;

NCI Metathesaurus CUI : CL1406487;

Details

Origin ID

C172356;

UMLS CUI

C5419603;

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
- TSC1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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