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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
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 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 | |
| 5333 | PLCD1 | phospholipase C delta 1 | |
| 5563 | PRKAA2 | protein kinase AMP-activated catalytic subunit alpha 2 | |
| 5728 | PTEN | phosphatase and tensin homolog | |
| 5742 | PTGS1 | prostaglandin-endoperoxide synthase 1 | |
| 5743 | PTGS2 | prostaglandin-endoperoxide synthase 2 | |
| 6383 | SDC2 | syndecan 2 | |
| 6390 | SDHB | succinate dehydrogenase complex iron sulfur subunit B |
Related Glycoprotein
