tuberous sclerosis 1

Summary
Definition
A tuberous sclerosis that is characterized by hamartomas in multiple organ systems and has_material_basis_in heterozygous mutation in the TSC1 gene on chromosome 9q34.
Super Class
tuberous sclerosis
Disease Ontology
DOID:0080324
Mondo Disease Ontology
MeSH
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
7248 TSC1 TSC complex subunit 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
64930 Tsc1 TSC complex subunit 1

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 9, 2024