Excel File Text File *Disease is associated/modeled with this Gene or a homolog. More...
      Disease Term Human Homologs Mouse Homologs Mouse Models Homology Source
     episodic kinesigenic dyskinesia 1 PRRT2* Prrt2* 2 models Alliance of Genome Resources
myoclonic dystonia 11 SGCE* Sgce* 2 models Alliance of Genome Resources
paroxysmal nonkinesigenic dyskinesia 1 PNKD* Pnkd* 2 models Alliance of Genome Resources
torsion dystonia 1 TOR1A* Tor1a* 4 models Alliance of Genome Resources
torsion dystonia 6 THAP1* Thap1* 2 models Alliance of Genome Resources
     focal dystonia TOR1A Tor1a* 1 model Alliance of Genome Resources
generalized dystonia CACNA1A Cacna1a* 2 models Alliance of Genome Resources
     blepharospasm DRD5* Drd5   Alliance of Genome Resources
cervical dystonia HLA-DQB1*, HLA-DQB2 H2-Ab1   Alliance of Genome Resources
childhood-onset dystonia with optic atrophy and basal ganglia abnormalities MECR* Mecr   Alliance of Genome Resources
childhood-onset GLUT1 deficiency syndrome 2 SLC2A1* Slc2a1   Alliance of Genome Resources
dystonia GCH1* Gch1   Alliance of Genome Resources
dystonia KCNN2* Kcnn2   Alliance of Genome Resources
dystonia KMT2B* Kmt2b   Alliance of Genome Resources
dystonia NUP54* Nup54   Alliance of Genome Resources
dystonia SPR* Spr   Alliance of Genome Resources
dystonia TIMM8A* Timm8a1   Alliance of Genome Resources
dystonia TMEM151A* Tmem151a   Alliance of Genome Resources
dystonia TSPOAP1* Tspoap1   Alliance of Genome Resources
dystonia VPS11* Vps11   Alliance of Genome Resources
dystonia VPS16* Vps16   Alliance of Genome Resources
dystonia SHQ1* Shq1   Alliance of Genome Resources
dystonia AOPEP* Aopep   Alliance of Genome Resources
dystonia EIF2AK2* Eif2ak2   Alliance of Genome Resources
dystonia 12 PLA2G6* Pla2g6   Alliance of Genome Resources
dystonia 12 ATP1A3* Atp1a3   Alliance of Genome Resources
dystonia 16 PRKRA* Prkra   Alliance of Genome Resources
dystonia 24 ANO3* Ano3   Alliance of Genome Resources
dystonia 25 GNAL* Gnal   Alliance of Genome Resources
dystonia 27 COL6A3* Col6a3   Alliance of Genome Resources
dystonia 5 GCH1* Gch1   Alliance of Genome Resources
dystonia 9 SLC2A1* Slc2a1   Alliance of Genome Resources
early-onset dystonia and/or spastic paraplegia ATP5MC3* Atp5mc3   Alliance of Genome Resources
myoclonic dystonia 26 KCTD17* Kctd17   Alliance of Genome Resources
paroxysmal nonkinesigenic dyskinesia 3 KCNMA1* Kcnma1   Alliance of Genome Resources
sepiapterin reductase deficiency SPR* Spr   Alliance of Genome Resources
torsion dystonia 2 HPCA* Hpca   Alliance of Genome Resources
torsion dystonia 4 TUBB4A* Tubb4a   Alliance of Genome Resources
X-linked dystonia-parkinsonism TAF1*, TAF1L Taf1   Alliance of Genome Resources

 
Transgenes and other genome features developed in mice to model this disease.
     Disease Term Transgenes and Other Genome Features Mouse Models
  paroxysmal nonkinesigenic dyskinesia 1 Tg(Pnkd*A7V*A9V,-DsRed)704Ljp 1 model
  paroxysmal nonkinesigenic dyskinesia 1 Tg(Pnkd*A7V*A9V,-DsRed)671Ljp 1 model
  torsion dystonia 1 Tg(CMV-TOR1A*)1Nush 1 model
  torsion dystonia 1 Tg(CMV-TOR1A*)2Nush 1 model
  torsion dystonia 1 Tg(Eno2-TOR1A*)13Shas 1 model