G2Cdb::Human Disease report
- Disease id
- D00000192
- Name
- Dystonia parkinsonism (rapid onset)
- Nervous system disease
- yes
Genes (3)
| Gene | Name/Description | Mutations Found | Literature | Mutations Type | Genetic association? |
|---|---|---|---|---|---|
| G00001313 | GRM5 glutamate receptor, metabotropic 5 |
Y | (15254951) | No mutation found (N) | N |
| G00001323 | ATP1A3 ATPase, Na+/K+ transporting, alpha 3 polypeptide |
Y | (17282997) | Unknown (?) | Y |
| G00001323 | ATP1A3 ATPase, Na+/K+ transporting, alpha 3 polypeptide |
Y | (16161139) | Microinsertion (MI) | Y |
| G00001323 | ATP1A3 ATPase, Na+/K+ transporting, alpha 3 polypeptide |
Y | (15897512) | No mutation found (N) | N |
| G00001323 | ATP1A3 ATPase, Na+/K+ transporting, alpha 3 polypeptide |
Y | (15260953) | Microinsertion (MI) | Y |
| G00001324 | ATP1A1 ATPase, Na+/K+ transporting, alpha 1 polypeptide |
Y | (15260953) | Microinsertion (MI) | Y |
| G00001324 | ATP1A1 ATPase, Na+/K+ transporting, alpha 1 polypeptide |
Y | (15260948) | Microinsertion (MI) | Y |