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: 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: 576
Gene Symbol: ADGRB2
ADGRB2
adhesion G protein-coupled receptor B2 0.890 0.192 1.00
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.100 None 1.000 1 1 2017 2017
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B
AT-rich interaction domain 1B 0.503 0.846 1.00
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.100 None 1.000 2 1 2012 2015
Entrez Id: 27241
Gene Symbol: BBS9
BBS9
Bardet-Biedl syndrome 9 0.615 0.577 4.2E-17
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 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: C0028738
Disease: Nystagmus
Nystagmus
disease 0.140 None 1.000 0 2 2010 2017
Entrez Id: 823
Gene Symbol: CAPN1
CAPN1
calpain 1 0.539 0.808 5.9E-10
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.100 None 0 1
Entrez Id: 81570
Gene Symbol: CLPB
CLPB
caseinolytic mitochondrial matrix peptidase chaperone subunit B 0.631 0.654 5.0E-04
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.100 None 0 2
Entrez Id: 80184
Gene Symbol: CEP290
CEP290
centrosomal protein 290 0.517 0.769 1.1E-60
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.100 None 0 2
Entrez Id: 1186
Gene Symbol: CLCN7
CLCN7
chloride voltage-gated channel 7 0.590 0.731 0.27
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.100 None 0 1
Entrez Id: 56997
Gene Symbol: COQ8A
COQ8A
coenzyme Q8A 0.674 0.385 9.3E-11
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.100 None 0 1
Entrez Id: 80781
Gene Symbol: COL18A1
COL18A1
collagen type XVIII alpha 1 chain 0.449 0.808 1.7E-10
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.100 None 0 2
Entrez Id: 1261
Gene Symbol: CNGA3
CNGA3
cyclic nucleotide gated channel subunit alpha 3 0.650 0.154 8.0E-20
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.110 None 1.000 0 1 2008 2008
Entrez Id: 54714
Gene Symbol: CNGB3
CNGB3
cyclic nucleotide gated channel subunit beta 3 0.633 0.192 7.8E-19
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.100 None 0 1
Entrez Id: 27292
Gene Symbol: DIMT1
DIMT1
DIMT1 rRNA methyltransferase and ribosome maturation factor 0.760 0.385 3.9E-07
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.100 None 0 1
Entrez Id: 26610
Gene Symbol: ELP4
ELP4
elongator acetyltransferase complex subunit 4 0.666 0.462 1.2E-07
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.100 None 0 1
Entrez Id: 23233
Gene Symbol: EXOC6B
EXOC6B
exocyst complex component 6B 0.682 0.577 0.12
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.100 None 1.000 2 1 2013 2014
Entrez Id: 2312
Gene Symbol: FLG
FLG
filaggrin 0.525 0.846 2.9E-04
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.100 None 0 1
Entrez Id: 339400
Gene Symbol: FLG-AS1
FLG-AS1
FLG antisense RNA 1 0.700 0.538
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.100 None 0 1
Entrez Id: 2290
Gene Symbol: FOXG1
FOXG1
forkhead box G1 0.522 0.692 0.94
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.100 None 0 1
Entrez Id: 2782
Gene Symbol: GNB1
GNB1
G protein subunit beta 1 0.617 0.731 1.00
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.100 None 1.000 1 2 2016 2016
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: 2581
Gene Symbol: GALC
GALC
galactosylceramidase 0.604 0.615 5.2E-15
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.100 None 0 2
Entrez Id: 3000
Gene Symbol: GUCY2D
GUCY2D
guanylate cyclase 2D, retinal 0.570 0.769 6.5E-10
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.110 None 1.000 0 1 2000 2000
Entrez Id: 3020
Gene Symbol: H3-3A
H3-3A
H3.3 histone A 0.559 0.692 0.12
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.100 None 0 1
Entrez Id: 64207
Gene Symbol: IRF2BPL
IRF2BPL
interferon regulatory factor 2 binding protein like 0.631 0.462 0.84
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.100 None 0 2