TSC2 Gene Inactivation

Preferred Label : TSC2 Gene Inactivation;

NCIt synonyms : TSC2 Tumor-Suppressor Gene Inactivation; Tuberous Sclerosis 2 Gene Inactivation; Inactivating TSC2 Gene Mutation; Tuberin Gene Inactivation;

NCIt definition : A mutation in the TSC2 gene that either inhibits the expression of or results in the translation of an inactive tuberin protein.;

Details

Origin ID

C36696;

UMLS CUI

C1515179;

Molecular abnormality of diseases
- Adult Subependymal Giant Cell Astrocytoma [NCIt concept]
- Childhood Subependymal Giant Cell Astrocytoma [NCIt concept]
- Lung Lymphangioleiomyomatosis [NCIt concept]
- Recurrent Childhood Subependymal Giant Cell Astrocytoma [NCIt concept]
- Subependymal Giant Cell Astrocytoma [NCIt concept]
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]
is_abnormality_of_gene
- TSC2 Gene [NCIt concept]
- TSC2 wt Allele [NCIt concept]
is_molecular_abnormality_of_disease
- Tuberous Sclerosis 2 [NCIt concept]
molecular_abnormality_involves_gene
- TSC2 Gene [NCIt concept]

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