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: 2643
Gene Symbol: GCH1
GCH1
GTP cyclohydrolase 1 0.511 0.846 0.90
CUI: C0013421
Disease: Dystonia
Dystonia
phenotype 0.700 None 0.982 1 0 1991 2019
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: 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: 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: 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: 80025
Gene Symbol: PANK2
PANK2
pantothenate kinase 2 0.559 0.808 7.4E-07
CUI: C0013421
Disease: Dystonia
Dystonia
phenotype 0.500 strong 1.000 1 0 2001 2019
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: 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: 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: 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: 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: 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: 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: 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: 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: 65018
Gene Symbol: PINK1
PINK1
PTEN induced kinase 1 0.516 0.769 1.9E-10
CUI: C0013421
Disease: Dystonia
Dystonia
phenotype 0.420 strong 1.000 1 0 2004 2015
Entrez Id: 8803
Gene Symbol: SUCLA2
SUCLA2
succinate-CoA ligase ADP-forming subunit beta 0.566 0.654 2.3E-03
CUI: C0013421
Disease: Dystonia
Dystonia
phenotype 0.420 None 1.000 0 0 2007 2009
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: 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: 6575
Gene Symbol: SLC20A2
SLC20A2
solute carrier family 20 member 2 0.638 0.577 0.97
CUI: C0013421
Disease: Dystonia
Dystonia
phenotype 0.410 strong 1.000 1 0 2014 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: 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
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: 7701
Gene Symbol: ZNF142
ZNF142
zinc finger protein 142 0.861 0.192 4.8E-16
CUI: C0013421
Disease: Dystonia
Dystonia
phenotype 0.410 strong 1.000 1 0 2019 2019