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: 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: 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: 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: 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: 5915
Gene Symbol: RARB
RARB
retinoic acid receptor beta 0.478 0.846 1.00
CUI: C0013421
Disease: Dystonia
Dystonia
phenotype 0.100 None 0 2
Entrez Id: 23314
Gene Symbol: SATB2
SATB2
SATB homeobox 2 0.503 0.769 1.00
CUI: C0013421
Disease: Dystonia
Dystonia
phenotype 0.100 None 0 1
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: 4864
Gene Symbol: NPC1
NPC1
NPC intracellular cholesterol transporter 1 0.518 0.692 6.5E-06
CUI: C0013421
Disease: Dystonia
Dystonia
phenotype 0.100 None 0 2
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: 2775
Gene Symbol: GNAO1
GNAO1
G protein subunit alpha o1 0.523 0.808 0.99
CUI: C0013421
Disease: Dystonia
Dystonia
phenotype 0.100 None 0 1
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: 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: 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: 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: 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: 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: 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: 79876
Gene Symbol: UBA5
UBA5
ubiquitin like modifier activating enzyme 5 0.582 0.731 2.5E-04
CUI: C0013421
Disease: Dystonia
Dystonia
phenotype 0.100 None 0 3
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
Entrez Id: 8621
Gene Symbol: CDK13
CDK13
cyclin dependent kinase 13 0.606 0.692 0.91
CUI: C0013421
Disease: Dystonia
Dystonia
phenotype 0.100 None 0 1
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: 8893
Gene Symbol: EIF2B5
EIF2B5
eukaryotic translation initiation factor 2B subunit epsilon 0.615 0.769 6.4E-02
CUI: C0013421
Disease: Dystonia
Dystonia
phenotype 0.100 None 0 1
Entrez Id: 2782
Gene Symbol: GNB1
GNB1
G protein subunit beta 1 0.617 0.731 1.00
CUI: C0013421
Disease: Dystonia
Dystonia
phenotype 0.100 None 0 2
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