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
neurodevelopmental disorder with involuntary movements GNAO1* Gnao1* 1 model 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
movement disease EFNB3 Efnb3* 1 model Alliance of Genome Resources
Stiff-Person syndrome TRAK1 Trak1* 1 model 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 GLUT1 deficiency syndrome 2 SLC2A1* Slc2a1   Alliance of Genome Resources
choreatic disease NKX2-1* Nkx2-1   Alliance of Genome Resources
choreatic disease VPS13A* Vps13a   Alliance of Genome Resources
choreatic disease HLA-DQA1*, HLA-DQA2 H2-Aa   Alliance of Genome Resources
choreatic disease HLA-DQB1*, HLA-DQB2 H2-Ab1   Alliance of Genome Resources
choreatic disease HLA-DRB1*, HLA-DRB3, HLA-DRB4, HLA-DRB5 H2-Eb1, H2-Eb2   Alliance of Genome Resources
classic dopamine transporter deficiency syndrome SLC6A3* Slc6a3   Alliance of Genome Resources
congenital mirror movement disorder RAD51* Rad51   Alliance of Genome Resources
congenital mirror movement disorder DCC* Dcc   Alliance of Genome Resources
congenital mirror movement disorder DNAL4* Dnal4   Alliance of Genome Resources
congenital mirror movement disorder NTN1* Ntn1   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 AOPEP* Aopep   Alliance of Genome Resources
dystonia EIF2AK2* Eif2ak2   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 MECR* Mecr   Alliance of Genome Resources
dystonia NUP54* Nup54   Alliance of Genome Resources
dystonia SHQ1* Shq1   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 12 ATP1A3* Atp1a3   Alliance of Genome Resources
dystonia 12 PLA2G6* Pla2g6   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
essential tremor DRD3* Drd3   Alliance of Genome Resources
essential tremor HNMT* Hnmt   Alliance of Genome Resources
essential tremor 1 DRD3* Drd3   Alliance of Genome Resources
essential tremor 4 FUS* Fus   Alliance of Genome Resources
essential tremor 5 TENM4* Tenm4   Alliance of Genome Resources
essential tremor 6 NOTCH2NLC*  
extrapyramidal and movement disease CYP2D6*, CYP2D7 Cyp2d9, Cyp2d10, Cyp2d11, Cyp2d12, Cyp2d22, Cyp2d26, Cyp2d34, Cyp2d40   Alliance of Genome Resources
infantile parkinsonism-dystonia 2 SLC18A2* Slc18a2   Alliance of Genome Resources
movement disease DRD2* Drd2   Alliance of Genome Resources
movement disease GSTP1* Gstp1, Gstp2, Gstp3, Gstp-ps   Alliance of Genome Resources
movement disease GSTM1*, GSTM5 Gstm1, Gstm2, Gstm3, Gstm6   Alliance of Genome Resources
myoclonic dystonia 26 KCTD17* Kctd17   Alliance of Genome Resources
Parkinsonism TNFRSF1B* Tnfrsf1b   Alliance of Genome Resources
Parkinsonism BDNF* Bdnf   Alliance of Genome Resources
Parkinsonism FGF2* Fgf2   Alliance of Genome Resources
Parkinsonism GBA1* Gba1   Alliance of Genome Resources
Parkinsonism GCH1* Gch1   Alliance of Genome Resources
Parkinsonism GDNF* Gdnf   Alliance of Genome Resources
Parkinsonism HSPA1A*, HSPA1B Hspa1a, Hspa1b   Alliance of Genome Resources
Parkinsonism LRRK2* Lrrk2   Alliance of Genome Resources
Parkinsonism MANF* Manf   Alliance of Genome Resources
Parkinsonism PARK7* Park7   Alliance of Genome Resources
Parkinsonism TH* Th   Alliance of Genome Resources
paroxysmal nonkinesigenic dyskinesia 3 KCNMA1* Kcnma1   Alliance of Genome Resources
progressive supranuclear palsy MAPT* Mapt   Alliance of Genome Resources
progressive supranuclear palsy NAT2*, NAT1 Nat1, Nat2, Nat3   Alliance of Genome Resources
progressive supranuclear palsy MAP2K6* Map2k6   Alliance of Genome Resources
sepiapterin reductase deficiency SPR* Spr   Alliance of Genome Resources
Stiff-Person syndrome HSD17B4* Hsd17b4   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
X-linked parkinsonism-spasticity syndrome ATP6AP2* Atp6ap2   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*)2Nush 1 model
  torsion dystonia 1 Tg(Eno2-TOR1A*)13Shas 1 model
  torsion dystonia 1 Tg(CMV-TOR1A*)1Nush 1 model