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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 |
|---|---|---|---|
| 28 | ABO | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | |
| 353 | APRT | adenine phosphoribosyltransferase | |
| 821 | CANX | calnexin | |
| 873 | CBR1 | carbonyl reductase 1 | |
| 2220 | FCN2 | ficolin 2 | |
| 3383 | ICAM1 | intercellular adhesion molecule 1 | |
| 4968 | OGG1 | 8-oxoguanine DNA glycosylase | |
| 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 |
