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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
blepharospasm
Summary
- Definition
- A focal dystonia that is characterized by the involuntary, forcible contraction of the muscles controlling eye blinks.
- Super Class
- focal dystonia
External Links
- Disease Ontology
- DOID:529
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- GARD
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 5538 | PPT1 | palmitoyl-protein thioesterase 1 | |
| 5621 | PRNP | prion protein (Kanno blood group) | |
| 5660 | PSAP | prosaposin | |
| 6309 | SC5D | sterol-C5-desaturase | |
| 6389 | SDHA | succinate dehydrogenase complex flavoprotein subunit A | |
| 6392 | SDHD | succinate dehydrogenase complex subunit D | |
| 6487 | ST3GAL3 | ST3 beta-galactoside alpha-2,3-sialyltransferase 3 | |
| 6900 | CNTN2 | contactin 2 | |
| 7957 | EPM2A | EPM2A glucan phosphatase, laforin | |
| 8398 | PLA2G6 | phospholipase A2 group VI |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q96MW5 | Conserved oligomeric Golgi complex subunit 8 | |
| Q99519 | Sialidase-1 | |
| Q9NPH2 | Inositol-3-phosphate synthase 1 | |
| Q9NQ66 | 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-1 | |
| Q9UNP4 | Lactosylceramide alpha-2,3-sialyltransferase |
