Source: INFERRED

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: 4935
Gene Symbol: GPR143
GPR143
G protein-coupled receptor 143 0.659 0.385 0.93
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.440 strong 1.000 0 1 2001 2015
Entrez Id: 5917
Gene Symbol: RARS1
RARS1
arginyl-tRNA synthetase 1 0.604 0.538 3.3E-08
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.410 None 1.000 0 0 2014 2020
Entrez Id: 57096
Gene Symbol: RPGRIP1
RPGRIP1
RPGR interacting protein 1 0.553 0.654 1.3E-23
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.410 None 1.000 0 0 2001 2001
Entrez Id: 26090
Gene Symbol: ABHD12
ABHD12
abhydrolase domain containing 12 0.666 0.385 1.9E-05
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.400 strong 1.000 1 1 2014 2018
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
calcium voltage-gated channel subunit alpha1 A 0.489 0.769 1.00
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.200 None 0.900 0 0 1998 2015
Entrez Id: 5080
Gene Symbol: PAX6
PAX6
paired box 6 0.450 0.769 1.00
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.140 None 1.000 0 1 2000 2014
Entrez Id: 5354
Gene Symbol: PLP1
PLP1
proteolipid protein 1 0.543 0.769 0.93
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.140 None 1.000 0 0 2000 2014
Entrez Id: 8573
Gene Symbol: CASK
CASK
calcium/calmodulin dependent serine protein kinase 0.538 0.808 1.00
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.140 None 1.000 0 2 2010 2017
Entrez Id: 6311
Gene Symbol: ATXN2
ATXN2
ataxin 2 0.482 0.808 0.85
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.130 None 1.000 0 0 2003 2015
Entrez Id: 6310
Gene Symbol: ATXN1
ATXN1
ataxin 1 0.534 0.769 0.97
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.120 None 1.000 0 0 1999 2003
Entrez Id: 778
Gene Symbol: CACNA1F
CACNA1F
calcium voltage-gated channel subunit alpha1 F 0.595 0.500 1.2E-05
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.120 None 0.500 0 0 2006 2007
Entrez Id: 7287
Gene Symbol: TULP1
TULP1
TUB like protein 1 0.623 0.462 5.7E-04
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.110 None 1.000 0 0 2016 2016
Entrez Id: 167691
Gene Symbol: LCA5
LCA5
lebercilin LCA5 0.674 0.269 4.1E-05
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.110 None 1.000 0 0 2014 2014
Entrez Id: 4308
Gene Symbol: TRPM1
TRPM1
transient receptor potential cation channel subfamily M member 1 0.626 0.462 1.6E-42
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.110 None 1.000 0 0 2018 2018
Entrez Id: 219285
Gene Symbol: SAMD9L
SAMD9L
sterile alpha motif domain containing 9 like 0.700 0.500 5.6E-15
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.110 None 1.000 0 0 2018 2018
Entrez Id: 8398
Gene Symbol: PLA2G6
PLA2G6
phospholipase A2 group VI 0.476 0.846 2.5E-10
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.110 None 1.000 0 0 2015 2015
Entrez Id: 492
Gene Symbol: ATP2B3
ATP2B3
ATPase plasma membrane Ca2+ transporting 3 0.631 0.692 1.00
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.110 None 1.000 0 0 2017 2017
Entrez Id: 5428
Gene Symbol: POLG
POLG
DNA polymerase gamma, catalytic subunit 0.457 0.846 2.1E-09
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.110 None 1.000 0 0 2016 2016
Entrez Id: 196
Gene Symbol: AHR
AHR
aryl hydrocarbon receptor 0.410 0.923 1.00
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.110 None 1.000 0 0 2019 2019
Entrez Id: 4535
Gene Symbol: ND1
ND1
NADH dehydrogenase, subunit 1 (complex I) 0.522 0.769
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.110 None 1.000 0 0 2016 2016
Entrez Id: 4976
Gene Symbol: OPA1
OPA1
OPA1 mitochondrial dynamin like GTPase 0.510 0.846 0.99
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.110 None 1.000 0 0 2016 2016
Entrez Id: 10939
Gene Symbol: AFG3L2
AFG3L2
AFG3 like matrix AAA peptidase subunit 2 0.588 0.462 5.3E-09
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.110 None 1.000 0 0 2014 2014
Entrez Id: 6576
Gene Symbol: SLC25A1
SLC25A1
solute carrier family 25 member 1 0.553 0.731 5.9E-02
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.110 None 1.000 0 0 2017 2017
Entrez Id: 84504
Gene Symbol: NKX6-2
NKX6-2
NK6 homeobox 2 0.695 0.500 2.9E-02
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.110 None 1.000 0 0 2020 2020
Entrez Id: 26504
Gene Symbol: CNNM4
CNNM4
cyclin and CBS domain divalent metal cation transport mediator 4 0.695 0.346 2.9E-07
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.110 None 1.000 0 0 2016 2016