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 1 - 10 of 27 in total
Gene ID Gene Symbol Description Source
28 ABO ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase
353 APRT adenine phosphoribosyltransferase
821 CANX calnexin
873 CBR1 carbonyl reductase 1
2220 FCN2 ficolin 2
3383 ICAM1 intercellular adhesion molecule 1
4968 OGG1 8-oxoguanine DNA glycosylase
5289 PIK3C3 phosphatidylinositol 3-kinase catalytic subunit type 3
5290 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha
5291 PIK3CB phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta
Related Glycoprotein
Displaying entries 21 - 22 of 22 in total
UniProt ID Protein Name Source
Q15485 Ficolin-2
Q6P1J6 Phospholipase B1, membrane-associated

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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