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: 6121
Gene Symbol: RPE65
RPE65
RPE65, retinoid isomerohydrolase 0.479 0.759 9.1E-14
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
group 0.500 1.000 3 2 1997 2017
Entrez Id: 145226
Gene Symbol: RDH12
RDH12
retinol dehydrogenase 12 0.652 0.345 3.1E-09
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
group 0.460 1.000 2 2 2004 2017
Entrez Id: 6103
Gene Symbol: RPGR
RPGR
retinitis pigmentosa GTPase regulator 0.577 0.621 1.00
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
group 0.460 0.833 1 2 2002 2017
Entrez Id: 57096
Gene Symbol: RPGRIP1
RPGRIP1
RPGR interacting protein 1 0.567 0.448 3.4E-20
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
group 0.430 1.000 0 5 2003 2013
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
ATP binding cassette subfamily A member 4 0.520 0.793 5.8E-47
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
group 0.200 1.000 15 26 1997 2017
Entrez Id: 23418
Gene Symbol: CRB1
CRB1
crumbs 1, cell polarity complex component 0.579 0.552 8.4E-16
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
group 0.200 1.000 3 9 1999 2017
Entrez Id: 80184
Gene Symbol: CEP290
CEP290
centrosomal protein 290 0.546 0.724 1.8E-54
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
group 0.130 1.000 2 5 2007 2017
Entrez Id: 375298
Gene Symbol: CERKL
CERKL
ceramide kinase like 0.690 0.310 4.3E-22
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
group 0.120 1.000 3 4 2004 2018
Entrez Id: 3000
Gene Symbol: GUCY2D
GUCY2D
guanylate cyclase 2D, retinal 0.619 0.586 3.2E-09
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
group 0.120 1.000 2 2 2001 2017
Entrez Id: 128338
Gene Symbol: DRAM2
DRAM2
DNA damage regulated autophagy modulator 2 0.799 0.172 1.1E-04
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
group 0.120 1.000 1 7 2015 2016
Entrez Id: 1261
Gene Symbol: CNGA3
CNGA3
cyclic nucleotide gated channel alpha 3 0.676 0.138 1.1E-19
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
group 0.120 1.000 0 1 2002 2015
Entrez Id: 10461
Gene Symbol: MERTK
MERTK
MER proto-oncogene, tyrosine kinase 0.557 0.690 2.7E-11
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
group 0.120 1.000 0 1 2000 2002
Entrez Id: 9227
Gene Symbol: LRAT
LRAT
lecithin retinol acyltransferase 0.602 0.621 2.6E-02
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
group 0.120 1.000 0 1 2011 2012
Entrez Id: 8842
Gene Symbol: PROM1
PROM1
prominin 1 0.450 0.793 2.4E-18
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
group 0.110 1.000 7 9 2008 2017
Entrez Id: 167691
Gene Symbol: LCA5
LCA5
LCA5, lebercilin 0.672 0.241 3.6E-05
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
group 0.110 1.000 3 2 2014 2017
Entrez Id: 388939
Gene Symbol: PCARE
PCARE
photoreceptor cilium actin regulator 0.690 0.310
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
group 0.110 1.000 2 1 2010 2017
Entrez Id: 10002
Gene Symbol: NR2E3
NR2E3
nuclear receptor subfamily 2 group E member 3 0.616 0.517
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
group 0.110 1.000 2 3 2008 2017
Entrez Id: 92211
Gene Symbol: CDHR1
CDHR1
cadherin related family member 1 0.681 0.310 3.2E-21
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
group 0.110 1.000 2 2 2010 2017
Entrez Id: 9657
Gene Symbol: IQCB1
IQCB1
IQ motif containing B1 0.667 0.414 1.2E-12
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
group 0.110 1.000 2 1 2005 2017
Entrez Id: 26121
Gene Symbol: PRPF31
PRPF31
pre-mRNA processing factor 31 0.609 0.552 1.00
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
group 0.110 1.000 1 5 2016 2017
Entrez Id: 1406
Gene Symbol: CRX
CRX
cone-rod homeobox 0.590 0.517 0.54
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
group 0.110 1.000 1 2 2014 2017
Entrez Id: 5949
Gene Symbol: RBP3
RBP3
retinol binding protein 3 0.624 0.517 8.5E-05
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
group 0.110 1.000 1 2 2015 2017
Entrez Id: 65217
Gene Symbol: PCDH15
PCDH15
protocadherin related 15 0.627 0.448 4.4E-25
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
group 0.110 < 0.001 0 1 2013 2013
Entrez Id: 55812
Gene Symbol: SPATA7
SPATA7
spermatogenesis associated 7 0.652 0.414 9.0E-13
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
group 0.110 1.000 0 1 2011 2011
Entrez Id: 64072
Gene Symbol: CDH23
CDH23
cadherin related 23 0.577 0.552 5.4E-06
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
group 0.110 < 0.001 0 1 2013 2013