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Standards Ontologies Notations
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 21 - 27 of 27 in total
Gene ID Gene Symbol Description Source
6652 SORD sorbitol dehydrogenase
7086 TKT transketolase
10724 OGA O-GlcNAcase
23417 MLYCD malonyl-CoA decarboxylase
23600 AMACR alpha-methylacyl-CoA racemase
151056 PLB1 phospholipase B1
284004 HEXD hexosaminidase D
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