Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 1861
Gene Symbol: TOR1A
TOR1A
torsin family 1 member A 0.566 0.731 5.1E-04
CUI: C0752203
Disease: Dystonia, Primary
Dystonia, Primary
disease 0.400 None 0.963 26 2 1997 2019
Entrez Id: 55145
Gene Symbol: THAP1
THAP1
THAP domain containing 1 0.644 0.462 0.80
CUI: C0752203
Disease: Dystonia, Primary
Dystonia, Primary
disease 0.400 None 1.000 15 0 2009 2016
Entrez Id: 2774
Gene Symbol: GNAL
GNAL
G protein subunit alpha L 0.674 0.308 1.00
CUI: C0752203
Disease: Dystonia, Primary
Dystonia, Primary
disease 0.330 None 1.000 3 0 2013 2014
Entrez Id: 10382
Gene Symbol: TUBB4A
TUBB4A
tubulin beta 4A class IVa 0.608 0.615 0.11
CUI: C0752203
Disease: Dystonia, Primary
Dystonia, Primary
disease 0.030 None 0.667 3 1 2013 2017
Entrez Id: 627
Gene Symbol: BDNF
BDNF
brain derived neurotrophic factor 0.345 0.923 0.66
CUI: C0752203
Disease: Dystonia, Primary
Dystonia, Primary
disease 0.020 None < 0.001 2 2 2013 2014
Entrez Id: 8910
Gene Symbol: SGCE
SGCE
sarcoglycan epsilon 0.626 0.538 2.4E-02
CUI: C0752203
Disease: Dystonia, Primary
Dystonia, Primary
disease 0.020 None 0.500 2 0 2004 2007
Entrez Id: 112476
Gene Symbol: PRRT2
PRRT2
proline rich transmembrane protein 2 0.448 0.808 0.58
CUI: C0752203
Disease: Dystonia, Primary
Dystonia, Primary
disease 0.020 None 1.000 2 0 2013 2013
Entrez Id: 2643
Gene Symbol: GCH1
GCH1
GTP cyclohydrolase 1 0.511 0.846 0.90
CUI: C0752203
Disease: Dystonia, Primary
Dystonia, Primary
disease 0.010 None 1.000 1 0 2014 2014
Entrez Id: 25792
Gene Symbol: CIZ1
CIZ1
CDKN1A interacting zinc finger protein 1 0.617 0.500 6.3E-02
CUI: C0752203
Disease: Dystonia, Primary
Dystonia, Primary
disease 0.010 None 1.000 1 0 2013 2013
Entrez Id: 4036
Gene Symbol: LRP2
LRP2
LDL receptor related protein 2 0.491 0.846 1.00
CUI: C0752203
Disease: Dystonia, Primary
Dystonia, Primary
disease 0.010 None 1.000 1 0 2018 2018
Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3
ATPase Na+/K+ transporting subunit alpha 3 0.544 0.615 1.00
CUI: C0752203
Disease: Dystonia, Primary
Dystonia, Primary
disease 0.010 None 1.000 1 0 2013 2013
Entrez Id: 23263
Gene Symbol: MCF2L
MCF2L
MCF.2 cell line derived transforming sequence like 0.559 0.769 2.7E-07
CUI: C0752203
Disease: Dystonia, Primary
Dystonia, Primary
disease 0.010 None 1.000 1 0 2018 2018
Entrez Id: 55532
Gene Symbol: SLC30A10
SLC30A10
solute carrier family 30 member 10 0.578 0.654 0.98
CUI: C0752203
Disease: Dystonia, Primary
Dystonia, Primary
disease 0.010 None 1.000 1 0 2013 2013
Entrez Id: 64601
Gene Symbol: VPS16
VPS16
VPS16 core subunit of CORVET and HOPS complexes 0.890 0.077 2.3E-15
CUI: C0752203
Disease: Dystonia, Primary
Dystonia, Primary
disease 0.010 None 1.000 1 0 2016 2016
Entrez Id: 348
Gene Symbol: APOE
APOE
apolipoprotein E 0.338 0.962 1.9E-03
CUI: C0752203
Disease: Dystonia, Primary
Dystonia, Primary
disease 0.010 None 1.000 1 0 2003 2003