Source: CLINVAR ×
Gene UniProt Gene Full Name Protein Class N. diseases g DSI g DPI g pLI Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 6121
Gene Symbol: RPE65
RPE65 		Q16518 retinoid isomerohydrolase RPE65 Enzyme 10 0.417 0.808 6.5E-14 0.500 None 1.000 2 2 1997 2019
Entrez Id: 145226
Gene Symbol: RDH12
RDH12 		Q96NR8 retinol dehydrogenase 12 Enzyme 7 0.650 0.308 2.3E-09 0.460 None 1.000 1 2 2004 2019
Entrez Id: 6103
Gene Symbol: RPGR
RPGR 		Q92834 retinitis pigmentosa GTPase regulator 13 0.536 0.692 1.00 0.460 None 1.000 1 3 2002 2019
Entrez Id: 57096
Gene Symbol: RPGRIP1
RPGRIP1 		Q96KN7 RPGR interacting protein 1 Enzyme modulator 12 0.553 0.654 1.3E-23 0.420 None 1.000 0 6 2002 2006
Entrez Id: 5631
Gene Symbol: PRPS1
PRPS1 		P60891 phosphoribosyl pyrophosphate synthetase 1 Kinase 11 0.584 0.731 0.92 0.400 strong 1.000 0 4 2018 2018
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4 		P78363 ATP binding cassette subfamily A member 4 Transporter 30 0.493 0.769 5.3E-48 0.200 None 0.967 18 34 1997 2019
Entrez Id: 23418
Gene Symbol: CRB1
CRB1 		P82279 crumbs cell polarity complex component 1 10 0.570 0.654 5.6E-16 0.200 None 1.000 4 12 1999 2019
Entrez Id: 92211
Gene Symbol: CDHR1
CDHR1 		Q96JP9 cadherin related family member 1 5 0.670 0.308 2.8E-21 0.180 None 1.000 2 4 2005 2019
Entrez Id: 5961
Gene Symbol: PRPH2
PRPH2 		P23942 peripherin 2 18 0.551 0.500 0.12 0.170 None 1.000 1 2 1998 2017
Entrez Id: 80184
Gene Symbol: CEP290
CEP290 		O15078 centrosomal protein 290 41 0.517 0.769 1.1E-60 0.160 None 1.000 1 6 2007 2018
Entrez Id: 7439
Gene Symbol: BEST1
BEST1 		O76090 bestrophin 1 Ion channel 11 0.465 0.885 1.8E-12 0.130 None 1.000 1 1 2009 2016
Entrez Id: 9227
Gene Symbol: LRAT
LRAT 		O95237 lecithin retinol acyltransferase 5 0.608 0.654 2.8E-02 0.130 None 1.000 0 1 2011 2014
Entrez Id: 64802
Gene Symbol: NMNAT1
NMNAT1 		Q9HAN9 nicotinamide nucleotide adenylyltransferase 1 Enzyme 10 0.656 0.269 3.5E-02 0.130 None 1.000 0 1 2014 2018
Entrez Id: 375298
Gene Symbol: CERKL
CERKL 		Q49MI3 ceramide kinase like 12 0.678 0.308 9.8E-25 0.120 None 1.000 2 5 2004 2018
Entrez Id: 10461
Gene Symbol: MERTK
MERTK 		Q12866 MER proto-oncogene, tyrosine kinase Kinase 3 0.531 0.692 2.7E-11 0.120 None 1.000 0 1 2000 2010
Entrez Id: 2978
Gene Symbol: GUCA1A
GUCA1A 		P43080 guanylate cyclase activator 1A 5 0.647 0.500 4.1E-04 0.120 None 1.000 0 1 2005 2019
Entrez Id: 8842
Gene Symbol: PROM1
PROM1 		O43490 prominin 1 Transporter 12 0.410 0.846 1.9E-22 0.110 None 1.000 7 11 2008 2016
Entrez Id: 282809
Gene Symbol: POC1B
POC1B 		Q8TC44 POC1 centriolar protein B 6 0.705 0.385 3.0E-08 0.110 None 1.000 3 1 2014 2015
Entrez Id: 7399
Gene Symbol: USH2A
USH2A 		O75445 usherin Enzyme modulator 41 0.579 0.692 1.6E-94 0.110 None 1.000 3 10 2000 2018
Entrez Id: 5949
Gene Symbol: RBP3
RBP3 		P10745 retinol binding protein 3 3 0.621 0.500 1.1E-04 0.110 None 1.000 1 2 2015 2016
Entrez Id: 5995
Gene Symbol: RGR
RGR 		P47804 retinal G protein coupled receptor G-protein coupled receptor 1 0.691 0.385 2.4E-10 0.110 None 1.000 1 1 1999 2016
Entrez Id: 6101
Gene Symbol: RP1
RP1 		P56715 RP1 axonemal microtubule associated 3 0.663 0.462 4.4E-13 0.110 None 1.000 1 7 2019 2019
Entrez Id: 3000
Gene Symbol: GUCY2D
GUCY2D 		Q02846 guanylate cyclase 2D, retinal Kinase 11 0.570 0.769 6.5E-10 0.110 None 1.000 1 2 2001 2020
Entrez Id: 9657
Gene Symbol: IQCB1
IQCB1 		Q15051 IQ motif containing B1 11 0.641 0.654 1.4E-12 0.110 None 1.000 1 4 2005 2018
Entrez Id: 26121
Gene Symbol: PRPF31
PRPF31 		Q8WWY3 pre-mRNA processing factor 31 Nucleic acid binding 3 0.531 0.731 0.98 0.110 None 1.000 1 6 2015 2016