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: 57096
Gene Symbol: RPGRIP1
RPGRIP1
RPGR interacting protein 1 0.567 0.448 3.4E-20
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.410 1.000 0 0 2001 2001
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
calcium voltage-gated channel subunit alpha1 A 0.534 0.552 1.00
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.200 0.917 0 0 1998 2016
Entrez Id: 5354
Gene Symbol: PLP1
PLP1
proteolipid protein 1 0.577 0.517 0.93
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.140 1.000 0 0 2000 2015
Entrez Id: 5080
Gene Symbol: PAX6
PAX6
paired box 6 0.479 0.655 1.00
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.130 1.000 0 0 2000 2014
Entrez Id: 778
Gene Symbol: CACNA1F
CACNA1F
calcium voltage-gated channel subunit alpha1 F 0.611 0.414 8.1E-05
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.120 0.500 0 0 2006 2008
Entrez Id: 4976
Gene Symbol: OPA1
OPA1
OPA1, mitochondrial dynamin like GTPase 0.555 0.621 1.00
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.110 1.000 0 0 2016 2016
Entrez Id: 5428
Gene Symbol: POLG
POLG
DNA polymerase gamma, catalytic subunit 0.477 0.724 1.3E-09
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.110 1.000 0 0 2016 2016
Entrez Id: 6121
Gene Symbol: RPE65
RPE65
RPE65, retinoid isomerohydrolase 0.479 0.759 9.1E-14
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.110 1.000 0 0 2000 2000
Entrez Id: 8842
Gene Symbol: PROM1
PROM1
prominin 1 0.450 0.793 2.4E-18
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.110 1.000 0 0 2016 2016
Entrez Id: 7287
Gene Symbol: TULP1
TULP1
tubby like protein 1 0.636 0.345 5.3E-04
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.110 1.000 0 0 2016 2016
Entrez Id: 5582
Gene Symbol: PRKCG
PRKCG
protein kinase C gamma 0.642 0.345 1.00
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.110 1.000 0 0 2007 2007
Entrez Id: 167691
Gene Symbol: LCA5
LCA5
LCA5, lebercilin 0.672 0.241 3.6E-05
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.110 1.000 0 0 2014 2014
Entrez Id: 146167
Gene Symbol: SLC38A8
SLC38A8
solute carrier family 38 member 8 0.785 0.241 2.5E-24
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.110 1.000 0 0 2015 2015
Entrez Id: 3913
Gene Symbol: LAMB2
LAMB2
laminin subunit beta 2 0.639 0.483 1.4E-18
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.110 1.000 0 0 2010 2010
Entrez Id: 1406
Gene Symbol: CRX
CRX
cone-rod homeobox 0.590 0.517 0.54
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.110 1.000 0 0 2000 2000
Entrez Id: 3000
Gene Symbol: GUCY2D
GUCY2D
guanylate cyclase 2D, retinal 0.619 0.586 3.2E-09
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.110 1.000 0 0 2000 2000
Entrez Id: 1261
Gene Symbol: CNGA3
CNGA3
cyclic nucleotide gated channel alpha 3 0.676 0.138 1.1E-19
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.110 1.000 0 0 2008 2008
Entrez Id: 5961
Gene Symbol: PRPH2
PRPH2
peripherin 2 0.588 0.379 0.14
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.110 1.000 0 0 2016 2016
Entrez Id: 51151
Gene Symbol: SLC45A2
SLC45A2
solute carrier family 45 member 2 0.619 0.448 2.0E-06
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.110 < 0.001 0 0 2014 2014
Entrez Id: 8398
Gene Symbol: PLA2G6
PLA2G6
phospholipase A2 group VI 0.494 0.724 2.8E-10
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.110 1.000 0 0 2015 2015
Entrez Id: 51103
Gene Symbol: NDUFAF1
NDUFAF1
NADH:ubiquinone oxidoreductase complex assembly factor 1 0.667 0.379 3.8E-03
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.100 0 0
Entrez Id: 51218
Gene Symbol: GLRX5
GLRX5
glutaredoxin 5 0.663 0.414 0.75
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.100 0 0
Entrez Id: 51102
Gene Symbol: MECR
MECR
mitochondrial trans-2-enoyl-CoA reductase 0.735 0.207 2.5E-05
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.100 0 0
Entrez Id: 51259
Gene Symbol: TMEM216
TMEM216
transmembrane protein 216 0.582 0.552 1.9E-03
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.100 0 0
Entrez Id: 51300
Gene Symbol: TIMMDC1
TIMMDC1
translocase of inner mitochondrial membrane domain containing 1 0.639 0.483 9.3E-09
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.100 0 0