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: 169522
Gene Symbol: KCNV2
KCNV2
potassium voltage-gated channel modifier subfamily V member 2 0.736 0.115 1.2E-26
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
group 0.100 None 1.000 1 3 2011 2011
Entrez Id: 1261
Gene Symbol: CNGA3
CNGA3
cyclic nucleotide gated channel subunit alpha 3 0.650 0.154 8.0E-20
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
group 0.110 None 1.000 0 1 2002 2002
Entrez Id: 57010
Gene Symbol: CABP4
CABP4
calcium binding protein 4 0.711 0.154 1.7E-10
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
group 0.100 None 0 1
Entrez Id: 23469
Gene Symbol: PHF3
PHF3
PHD finger protein 3 0.760 0.192 0.99
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
group 0.100 None 1.000 1 2 2016 2016
Entrez Id: 54714
Gene Symbol: CNGB3
CNGB3
cyclic nucleotide gated channel subunit beta 3 0.633 0.192 7.8E-19
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
group 0.100 None 1.000 1 1 2000 2000
Entrez Id: 167691
Gene Symbol: LCA5
LCA5
lebercilin LCA5 0.674 0.269 4.1E-05
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
group 0.100 None 1.000 2 2 2013 2015
Entrez Id: 116933
Gene Symbol: CLRN1-AS1
CLRN1-AS1
CLRN1 antisense RNA 1 0.821 0.269
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
group 0.100 None 0 1
Entrez Id: 1259
Gene Symbol: CNGA1
CNGA1
cyclic nucleotide gated channel subunit alpha 1 0.695 0.269 2.8E-11
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
group 0.100 None 0 1
Entrez Id: 51090
Gene Symbol: PLLP
PLLP
plasmolipin 0.805 0.269 9.2E-03
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
group 0.100 None 0 1
Entrez Id: 64802
Gene Symbol: NMNAT1
NMNAT1
nicotinamide nucleotide adenylyltransferase 1 0.656 0.269 3.5E-02
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
group 0.130 None 1.000 0 1 2014 2018
Entrez Id: 375298
Gene Symbol: CERKL
CERKL
ceramide kinase like 0.678 0.308 9.8E-25
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
group 0.120 None 1.000 2 5 2004 2018
Entrez Id: 92211
Gene Symbol: CDHR1
CDHR1
cadherin related family member 1 0.670 0.308 2.8E-21
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
group 0.180 None 1.000 2 4 2005 2019
Entrez Id: 145226
Gene Symbol: RDH12
RDH12
retinol dehydrogenase 12 0.650 0.308 2.3E-09
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
group 0.460 None 1.000 1 2 2004 2019
Entrez Id: 50939
Gene Symbol: IMPG2
IMPG2
interphotoreceptor matrix proteoglycan 2 0.659 0.308 2.8E-13
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
group 0.100 None 1.000 1 4 2010 2010
Entrez Id: 84140
Gene Symbol: FAM161A
FAM161A
FAM161 centrosomal protein A 0.691 0.308 5.1E-13
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
group 0.100 None 1.000 1 3 2019 2019
Entrez Id: 6102
Gene Symbol: RP2
RP2
RP2 activator of ARL3 GTPase 0.670 0.346 0.96
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
group 0.100 None 1.000 2 3 1999 2003
Entrez Id: 388939
Gene Symbol: PCARE
PCARE
photoreceptor cilium actin regulator 0.674 0.346 3.0E-18
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
group 0.100 None 1.000 1 1 2010 2010
Entrez Id: 114902
Gene Symbol: C1QTNF5
C1QTNF5
C1q and TNF related 5 0.663 0.346 0.84
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
group 0.100 None 0 3
Entrez Id: 152519
Gene Symbol: NIPAL1
NIPAL1
NIPA like domain containing 1 0.760 0.346 2.5E-10
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
group 0.100 None 0 1
Entrez Id: 5158
Gene Symbol: PDE6B
PDE6B
phosphodiesterase 6B 0.626 0.346 2.6E-27
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
group 0.110 None 1.000 0 1 2017 2017
Entrez Id: 282809
Gene Symbol: POC1B
POC1B
POC1 centriolar protein B 0.705 0.385 3.0E-08
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
group 0.110 None 1.000 3 1 2014 2015
Entrez Id: 26090
Gene Symbol: ABHD12
ABHD12
abhydrolase domain containing 12 0.666 0.385 1.9E-05
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
group 0.100 None 1.000 1 2 2012 2012
Entrez Id: 5995
Gene Symbol: RGR
RGR
retinal G protein coupled receptor 0.691 0.385 2.4E-10
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
group 0.110 None 1.000 1 1 1999 2016
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
myosin VIIA 0.585 0.423 1.6E-38
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
group 0.100 None 0 3
Entrez Id: 7401
Gene Symbol: CLRN1
CLRN1
clarin 1 0.633 0.423 1.7E-08
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
group 0.100 None 0 1