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
External Links
Disease Ontology
DOID:0080324
Mondo Disease Ontology
MeSH
OMIM
Related Genes
Displaying entries 11 - 20 of 27 in total
Gene ID Gene Symbol Description Source
5293 PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta
5294 PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma
5310 PKD1 polycystin 1, transient receptor potential channel interacting
5333 PLCD1 phospholipase C delta 1
5563 PRKAA2 protein kinase AMP-activated catalytic subunit alpha 2
5728 PTEN phosphatase and tensin homolog
5742 PTGS1 prostaglandin-endoperoxide synthase 1
5743 PTGS2 prostaglandin-endoperoxide synthase 2
6383 SDC2 syndecan 2
6390 SDHB succinate dehydrogenase complex iron sulfur subunit B

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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: August 19, 2024