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 91 - 100 of 140 in total
Gene ID Gene Symbol Description Source
6652 SORD sorbitol dehydrogenase
6718 AKR1D1 aldo-keto reductase family 1 member D1
6783 SULT1E1 sulfotransferase family 1E member 1
7086 TKT transketolase
8879 SGPL1 sphingosine-1-phosphate lyase 1
9023 CH25H cholesterol 25-hydroxylase
9060 PAPSS2 3'-phosphoadenosine 5'-phosphosulfate synthase 2
9126 SMC3 structural maintenance of chromosomes 3
9197 SLC33A1 solute carrier family 33 member 1
9514 GAL3ST1 galactose-3-O-sulfotransferase 1
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