Source: GENOMICS_ENGLAND

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: 103
Gene Symbol: ADAR
ADAR
adenosine deaminase RNA specific 0.501 0.808 2.6E-02
CUI: C0013421
Disease: Dystonia
Dystonia
phenotype 0.440 None 1.000 3 0 2006 2016
Entrez Id: 10382
Gene Symbol: TUBB4A
TUBB4A
tubulin beta 4A class IVa 0.608 0.615 0.11
CUI: C0013421
Disease: Dystonia
Dystonia
phenotype 0.500 None 1.000 3 0 2011 2018
Entrez Id: 8575
Gene Symbol: PRKRA
PRKRA
protein activator of interferon induced protein kinase EIF2AK2 0.579 0.615 0.42
CUI: C0013421
Disease: Dystonia
Dystonia
phenotype 0.600 None 1.000 3 0 2008 2018
Entrez Id: 84947
Gene Symbol: SERAC1
SERAC1
serine active site containing 1 0.686 0.385 3.9E-06
CUI: C0013421
Disease: Dystonia
Dystonia
phenotype 0.620 None 1.000 3 0 2006 2018
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
solute carrier family 2 member 1 0.388 0.808 0.99
CUI: C0013421
Disease: Dystonia
Dystonia
phenotype 0.450 None 1.000 3 0 2000 2018
Entrez Id: 23400
Gene Symbol: ATP13A2
ATP13A2
ATPase cation transporting 13A2 0.566 0.577 9.0E-09
CUI: C0013421
Disease: Dystonia
Dystonia
phenotype 0.440 strong 0.833 2 0 2010 2019
Entrez Id: 8905
Gene Symbol: AP1S2
AP1S2
adaptor related protein complex 1 subunit sigma 2 0.631 0.615 0.87
CUI: C0013421
Disease: Dystonia
Dystonia
phenotype 0.300 None 1.000 2 0 2008 2014
Entrez Id: 2639
Gene Symbol: GCDH
GCDH
glutaryl-CoA dehydrogenase 0.691 0.385 4.9E-03
CUI: C0013421
Disease: Dystonia
Dystonia
phenotype 0.430 None 1.000 2 0 1995 2015
Entrez Id: 5860
Gene Symbol: QDPR
QDPR
quinoid dihydropteridine reductase 0.691 0.500 1.5E-04
CUI: C0013421
Disease: Dystonia
Dystonia
phenotype 0.400 None 1.000 2 0 1998 2000
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
presenilin 1 0.469 0.846 0.97
CUI: C0013421
Disease: Dystonia
Dystonia
phenotype 0.410 None 1.000 2 0 2012 2017
Entrez Id: 5805
Gene Symbol: PTS
PTS
6-pyruvoyltetrahydropterin synthase 0.636 0.654 6.5E-06
CUI: C0013421
Disease: Dystonia
Dystonia
phenotype 0.400 None 1.000 2 0 2016 2016
Entrez Id: 54209
Gene Symbol: TREM2
TREM2
triggering receptor expressed on myeloid cells 2 0.519 0.769 3.3E-09
CUI: C0013421
Disease: Dystonia
Dystonia
phenotype 0.300 None 1.000 2 0 2005 2016
Entrez Id: 477
Gene Symbol: ATP1A2
ATP1A2
ATPase Na+/K+ transporting subunit alpha 2 0.597 0.615 1.8E-04
CUI: C0013421
Disease: Dystonia
Dystonia
phenotype 0.400 None 1.000 2 0 2003 2003
Entrez Id: 170302
Gene Symbol: ARX
ARX
aristaless related homeobox 0.516 0.654 0.91
CUI: C0013421
Disease: Dystonia
Dystonia
phenotype 0.460 None 1.000 2 0 2002 2015
Entrez Id: 1644
Gene Symbol: DDC
DDC
dopa decarboxylase 0.535 0.769 3.8E-08
CUI: C0013421
Disease: Dystonia
Dystonia
phenotype 0.300 None 1.000 2 0 2009 2014
Entrez Id: 11152
Gene Symbol: WDR45
WDR45
WD repeat domain 45 0.647 0.423 0.99
CUI: C0013421
Disease: Dystonia
Dystonia
phenotype 0.420 strong 1.000 2 0 2012 2015
Entrez Id: 5159
Gene Symbol: PDGFRB
PDGFRB
platelet derived growth factor receptor beta 0.416 0.846 0.90
CUI: C0013421
Disease: Dystonia
Dystonia
phenotype 0.400 None 1.000 2 0 2014 2015
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
parkin RBR E3 ubiquitin protein ligase 0.431 0.846 6.9E-07
CUI: C0013421
Disease: Dystonia
Dystonia
phenotype 0.490 strong 1.000 2 0 1998 2020
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
calcium voltage-gated channel subunit alpha1 A 0.489 0.769 1.00
CUI: C0013421
Disease: Dystonia
Dystonia
phenotype 0.480 None 1.000 1 0 1999 2020
Entrez Id: 57462
Gene Symbol: MYORG
MYORG
myogenesis regulating glycosidase (putative) 0.805 0.269 1.1E-11
CUI: C0013421
Disease: Dystonia
Dystonia
phenotype 0.400 strong 1.000 1 0 2019 2019
Entrez Id: 57192
Gene Symbol: MCOLN1
MCOLN1
mucolipin 1 0.601 0.654 5.8E-04
CUI: C0013421
Disease: Dystonia
Dystonia
phenotype 0.400 limited 1.000 1 0 2018 2018
Entrez Id: 55145
Gene Symbol: THAP1
THAP1
THAP domain containing 1 0.644 0.462 0.80
CUI: C0013421
Disease: Dystonia
Dystonia
phenotype 0.600 None 0.964 1 0 1999 2019
Entrez Id: 549
Gene Symbol: AUH
AUH
AU RNA binding methylglutaconyl-CoA hydratase 0.686 0.346 8.0E-06
CUI: C0013421
Disease: Dystonia
Dystonia
phenotype 0.400 None 1.000 1 0 2010 2010
Entrez Id: 54840
Gene Symbol: APTX
APTX
aprataxin 0.590 0.500 4.0E-10
CUI: C0013421
Disease: Dystonia
Dystonia
phenotype 0.410 None 1.000 1 0 2003 2003
Entrez Id: 84153
Gene Symbol: RNASEH2C
RNASEH2C
ribonuclease H2 subunit C 0.590 0.731 5.5E-03
CUI: C0013421
Disease: Dystonia
Dystonia
phenotype 0.400 limited 1.000 1 0 2006 2006