Source: CLINVAR

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 0 2 1991 2019
Entrez Id: 7054
Gene Symbol: TH
TH
tyrosine hydroxylase 0.462 0.885 1.7E-06
CUI: C0013421
Disease: Dystonia
Dystonia
phenotype 0.500 None 1.000 17 6 1989 2019
Entrez Id: 1861
Gene Symbol: TOR1A
TOR1A
torsin family 1 member A 0.566 0.731 5.1E-04
CUI: C0013421
Disease: Dystonia
Dystonia
phenotype 0.500 None 0.973 2 1 1991 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 1 1 2011 2018
Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3
ATPase Na+/K+ transporting subunit alpha 3 0.544 0.615 1.00
CUI: C0013421
Disease: Dystonia
Dystonia
phenotype 0.500 None 1.000 0 2 1999 2016
Entrez Id: 9757
Gene Symbol: KMT2B
KMT2B
lysine methyltransferase 2B 0.529 0.808 1.00
CUI: C0013421
Disease: Dystonia
Dystonia
phenotype 0.500 None 1.000 0 1 2016 2019
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 0 1 2001 2019
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 0 1 2000 2018
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 0 1 2008 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 0 1 1995 2015
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 3 2019 2019
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 1 1 2010 2016
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 1 1 2012 2017
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 0 2 2013 2017
Entrez Id: 2290
Gene Symbol: FOXG1
FOXG1
forkhead box G1 0.522 0.692 0.94
CUI: C0013421
Disease: Dystonia
Dystonia
phenotype 0.400 None 1.000 0 1 2017 2017
Entrez Id: 4541
Gene Symbol: ND6
ND6
NADH dehydrogenase, subunit 6 (complex I) 0.544 0.808
CUI: C0013421
Disease: Dystonia
Dystonia
phenotype 0.180 None 1.000 1 1 1994 2016
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
methyl-CpG binding protein 2 0.414 0.846 0.89
CUI: C0013421
Disease: Dystonia
Dystonia
phenotype 0.130 None 1.000 0 1 2008 2011
Entrez Id: 6697
Gene Symbol: SPR
SPR
sepiapterin reductase 0.631 0.654 4.3E-02
CUI: C0013421
Disease: Dystonia
Dystonia
phenotype 0.100 None 1.000 6 2 2001 2013
Entrez Id: 54082
Gene Symbol: TSPEAR-AS1
TSPEAR-AS1
TSPEAR antisense RNA 1 0.821 0.269
CUI: C0013421
Disease: Dystonia
Dystonia
phenotype 0.100 None 1.000 1 1 2016 2016
Entrez Id: 54084
Gene Symbol: TSPEAR
TSPEAR
thrombospondin type laminin G domain and EAR repeats 0.736 0.385 2.4E-17
CUI: C0013421
Disease: Dystonia
Dystonia
phenotype 0.100 None 1.000 1 2 2016 2016
Entrez Id: 51294
Gene Symbol: PCDH12
PCDH12
protocadherin 12 0.722 0.346 2.9E-13
CUI: C0013421
Disease: Dystonia
Dystonia
phenotype 0.100 None 1.000 1 1 2019 2019
Entrez Id: 1476
Gene Symbol: CSTB
CSTB
cystatin B 0.530 0.692 6.6E-03
CUI: C0013421
Disease: Dystonia
Dystonia
phenotype 0.100 None 0 1
Entrez Id: 8573
Gene Symbol: CASK
CASK
calcium/calmodulin dependent serine protein kinase 0.538 0.808 1.00
CUI: C0013421
Disease: Dystonia
Dystonia
phenotype 0.100 None 0 1
Entrez Id: 814
Gene Symbol: CAMK4
CAMK4
calcium/calmodulin dependent protein kinase IV 0.621 0.654 0.51
CUI: C0013421
Disease: Dystonia
Dystonia
phenotype 0.100 None 0 1
Entrez Id: 1892
Gene Symbol: ECHS1
ECHS1
enoyl-CoA hydratase, short chain 1 0.601 0.654 8.8E-04
CUI: C0013421
Disease: Dystonia
Dystonia
phenotype 0.100 None 0 2