TSC1 Gene Inactivation

Preferred Label : TSC1 Gene Inactivation;

NCIt synonyms : TSC1 Tumor-Suppressor Gene Inactivation; TSC Gene Inactivation; Tuberous Sclerosis 1 Gene Inactivation; Inactivating TSC1 Gene Mutation; Hamartin Gene Inactivation; Loss of Function TSC1 Mutation; TSC1 Loss of Function Gene Mutation; TSC1 Inactivating Mutation; Inactivating TSC1 Mutation; TSC1 Loss of Function Mutation;

NCIt definition : A mutation in the TSC1 gene that either inhibits the expression of or results in the translation of an inactive hamartin protein.;

Details

Origin ID

C40462;

UMLS CUI

C1515178;

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
- TSC1 Gene [NCIt concept]
- TSC1 wt Allele [NCIt concept]
is_molecular_abnormality_of_disease
- Tuberous Sclerosis 1 [NCIt concept]
molecular_abnormality_involves_gene
- TSC1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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