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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 |
|---|---|---|---|
| 8867 | SYNJ1 | synaptojanin 1 | |
| 8869 | ST3GAL5 | ST3 beta-galactoside alpha-2,3-sialyltransferase 5 | |
| 9091 | PIGQ | phosphatidylinositol glycan anchor biosynthesis class Q | |
| 9487 | PIGL | phosphatidylinositol glycan anchor biosynthesis class L | |
| 10715 | CERS1 | ceramide synthase 1 | |
| 22901 | ARSG | arylsulfatase G | |
| 23236 | PLCB1 | phospholipase C beta 1 | |
| 23556 | PIGN | phosphatidylinositol glycan anchor biosynthesis class N | |
| 26275 | HIBCH | 3-hydroxyisobutyryl-CoA hydrolase | |
| 27315 | PGAP2 | post-GPI attachment to proteins 2 |
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 |
