tuberous sclerosis

Summary
Synonym
  • Bourneville's disease
  • Epiloia
  • Tuberose sclerosis
  • Tuberous sclerosis syndrome
  • cerebral sclerosis
Definition
A syndrome that is characterized by the growth of numerous noncancerous tumors in many parts of the body.
Super Class
autosomal dominant disease syndrome
External Links
Related Genes
Displaying entries 51 - 60 of 140 in total
Gene ID Gene Symbol Description Source
3988 LIPA lipase A, lysosomal acid type
4099 MAG myelin associated glycoprotein
4360 MRC1 mannose receptor C-type 1
4706 NDUFAB1 NADH:ubiquinone oxidoreductase subunit AB1
4758 NEU1 neuraminidase 1
4913 NTHL1 nth like DNA glycosylase 1
4968 OGG1 8-oxoguanine DNA glycosylase
5048 PAFAH1B1 platelet activating factor acetylhydrolase 1b regulatory subunit 1
5161 PDHA2 pyruvate dehydrogenase E1 subunit alpha 2
5226 PGD phosphogluconate dehydrogenase
Related Glycoprotein
Displaying entries 111 - 112 of 112 in total
UniProt ID Protein Name Source
Q9Y2D2 UDP-N-acetylglucosamine transporter
Q9Y6A1 Protein O-mannosyl-transferase 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: August 19, 2024