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: 111
Gene Symbol: ADCY5
ADCY5
adenylate cyclase 5 0.617 0.577 1.00
CUI: C0013421
Disease: Dystonia
Dystonia
phenotype 0.470 None 1.000 1 0 2014 2017
Entrez Id: 10939
Gene Symbol: AFG3L2
AFG3L2
AFG3 like matrix AAA peptidase subunit 2 0.588 0.462 5.3E-09
CUI: C0013421
Disease: Dystonia
Dystonia
phenotype 0.400 strong 0 0
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: 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: 410
Gene Symbol: ARSA
ARSA
arylsulfatase A 0.448 0.923 1.1E-11
CUI: C0013421
Disease: Dystonia
Dystonia
phenotype 0.400 None 0 0
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: 472
Gene Symbol: ATM
ATM
ATM serine/threonine kinase 0.374 0.885 5.6E-47
CUI: C0013421
Disease: Dystonia
Dystonia
phenotype 0.420 None 0.500 0 0 2012 2015
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: 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: 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: 83636
Gene Symbol: C19orf12
C19orf12
chromosome 19 open reading frame 12 0.641 0.615 0.34
CUI: C0013421
Disease: Dystonia
Dystonia
phenotype 0.410 strong 1.000 1 0 2013 2017
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: 777
Gene Symbol: CACNA1E
CACNA1E
calcium voltage-gated channel subunit alpha1 E 0.650 0.577 1.00
CUI: C0013421
Disease: Dystonia
Dystonia
phenotype 0.400 strong 1.000 1 0 2018 2018
Entrez Id: 25978
Gene Symbol: CHMP2B
CHMP2B
charged multivesicular body protein 2B 0.543 0.731 4.6E-06
CUI: C0013421
Disease: Dystonia
Dystonia
phenotype 0.400 None 1.000 1 0 2008 2008
Entrez Id: 1356
Gene Symbol: CP
CP
ceruloplasmin 0.466 0.846 4.2E-10
CUI: C0013421
Disease: Dystonia
Dystonia
phenotype 0.310 None 1.000 1 0 1987 2006
Entrez Id: 1593
Gene Symbol: CYP27A1
CYP27A1
cytochrome P450 family 27 subfamily A member 1 0.538 0.731 5.3E-19
CUI: C0013421
Disease: Dystonia
Dystonia
phenotype 0.400 strong 1.000 1 0 2018 2018
Entrez Id: 80067
Gene Symbol: DCAF17
DCAF17
DDB1 and CUL4 associated factor 17 0.653 0.577 3.7E-07
CUI: C0013421
Disease: Dystonia
Dystonia
phenotype 0.410 None 0.500 0 0 2010 2016
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: 1737
Gene Symbol: DLAT
DLAT
dihydrolipoamide S-acetyltransferase 0.576 0.731 2.3E-08
CUI: C0013421
Disease: Dystonia
Dystonia
phenotype 0.300 None 1.000 1 0 2009 2009
Entrez Id: 124454
Gene Symbol: EARS2
EARS2
glutamyl-tRNA synthetase 2, mitochondrial 0.666 0.538 1.1E-08
CUI: C0013421
Disease: Dystonia
Dystonia
phenotype 0.400 limited 0 0
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6
ERCC excision repair 6, chromatin remodeling factor 0.507 0.808 5.2E-22
CUI: C0013421
Disease: Dystonia
Dystonia
phenotype 0.300 limited 1.000 1 0 2008 2008
Entrez Id: 79152
Gene Symbol: FA2H
FA2H
fatty acid 2-hydroxylase 0.573 0.654 0.15
CUI: C0013421
Disease: Dystonia
Dystonia
phenotype 0.430 None 1.000 1 0 2008 2019
Entrez Id: 22868
Gene Symbol: FASTKD2
FASTKD2
FAST kinase domains 2 0.659 0.731 2.9E-06
CUI: C0013421
Disease: Dystonia
Dystonia
phenotype 0.300 limited 0 0
Entrez Id: 25793
Gene Symbol: FBXO7
FBXO7
F-box protein 7 0.650 0.769 5.8E-07
CUI: C0013421
Disease: Dystonia
Dystonia
phenotype 0.410 strong 1.000 1 0 2009 2010