Source: HPO

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: 4513
Gene Symbol: COX2
COX2
cytochrome c oxidase subunit II 0.352 0.962
CUI: C0013421
Disease: Dystonia
Dystonia
phenotype 0.110 None 1.000 0 0 2017 2017
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: 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 0 2000 2018
Entrez Id: 6857
Gene Symbol: SYT1
SYT1
synaptotagmin 1 0.412 0.846 0.60
CUI: C0013421
Disease: Dystonia
Dystonia
phenotype 0.100 None 0 0
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 0 2008 2011
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 0 0 2014 2015
Entrez Id: 6622
Gene Symbol: SNCA
SNCA
synuclein alpha 0.427 0.885 0.88
CUI: C0013421
Disease: Dystonia
Dystonia
phenotype 0.100 None 0 0
Entrez Id: 8878
Gene Symbol: SQSTM1
SQSTM1
sequestosome 1 0.428 0.885 8.6E-04
CUI: C0013421
Disease: Dystonia
Dystonia
phenotype 0.110 None 1.000 0 0 2019 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 0 0 1998 2020
Entrez Id: 4512
Gene Symbol: COX1
COX1
cytochrome c oxidase subunit I 0.441 0.885
CUI: C0013421
Disease: Dystonia
Dystonia
phenotype 0.100 None 0 0
Entrez Id: 4137
Gene Symbol: MAPT
MAPT
microtubule associated protein tau 0.446 0.923 6.0E-03
CUI: C0013421
Disease: Dystonia
Dystonia
phenotype 0.100 None 0 0
Entrez Id: 2720
Gene Symbol: GLB1
GLB1
galactosidase beta 1 0.448 0.808 7.9E-10
CUI: C0013421
Disease: Dystonia
Dystonia
phenotype 0.110 None < 0.001 0 0 1992 1992
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: 7080
Gene Symbol: NKX2-1
NKX2-1
NK2 homeobox 1 0.457 0.808 0.36
CUI: C0013421
Disease: Dystonia
Dystonia
phenotype 0.110 None 1.000 0 0 2007 2007
Entrez Id: 79947
Gene Symbol: DHDDS
DHDDS
dehydrodolichyl diphosphate synthase subunit 0.468 0.885 0.25
CUI: C0013421
Disease: Dystonia
Dystonia
phenotype 0.100 None 0 0
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 0 0 2012 2017
Entrez Id: 7415
Gene Symbol: VCP
VCP
valosin containing protein 0.469 0.923 1.00
CUI: C0013421
Disease: Dystonia
Dystonia
phenotype 0.100 None 0 0
Entrez Id: 23636
Gene Symbol: NUP62
NUP62
nucleoporin 62 0.470 0.885 0.95
CUI: C0013421
Disease: Dystonia
Dystonia
phenotype 0.100 None 0 0
Entrez Id: 64135
Gene Symbol: IFIH1
IFIH1
interferon induced with helicase C domain 1 0.471 0.808 7.0E-44
CUI: C0013421
Disease: Dystonia
Dystonia
phenotype 0.100 None 0 0
Entrez Id: 6392
Gene Symbol: SDHD
SDHD
succinate dehydrogenase complex subunit D 0.472 0.885 0.34
CUI: C0013421
Disease: Dystonia
Dystonia
phenotype 0.100 None 0 0
Entrez Id: 6535
Gene Symbol: SLC6A8
SLC6A8
solute carrier family 6 member 8 0.476 0.846 1.00
CUI: C0013421
Disease: Dystonia
Dystonia
phenotype 0.110 None 1.000 0 0 2012 2012
Entrez Id: 7430
Gene Symbol: EZR
EZR
ezrin 0.476 0.808 0.18
CUI: C0013421
Disease: Dystonia
Dystonia
phenotype 0.100 None 0 0
Entrez Id: 8398
Gene Symbol: PLA2G6
PLA2G6
phospholipase A2 group VI 0.476 0.846 2.5E-10
CUI: C0013421
Disease: Dystonia
Dystonia
phenotype 0.180 None 1.000 0 0 2009 2018
Entrez Id: 9997
Gene Symbol: SCO2
SCO2
synthesis of cytochrome C oxidase 2 0.479 0.846 7.5E-07
CUI: C0013421
Disease: Dystonia
Dystonia
phenotype 0.110 None 1.000 0 0 2017 2017
Entrez Id: 7528
Gene Symbol: YY1
YY1
YY1 transcription factor 0.481 0.808 0.99
CUI: C0013421
Disease: Dystonia
Dystonia
phenotype 0.100 None 0 0