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 61 - 70 of 140 in total
Gene ID Gene Symbol Description Source
5236 PGM1 phosphoglucomutase 1
5277 PIGA phosphatidylinositol glycan anchor biosynthesis class A
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
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
5311 PKD2 polycystin 2, transient receptor potential cation channel
5333 PLCD1 phospholipase C delta 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