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 431 0.417 0.808 6.5E-14 0.500 None 1.000 29 2 2001 2020
Entrez Id: 167691
Gene Symbol: LCA5
LCA5
Q86VQ0 lebercilin LCA5 53 0.674 0.269 4.1E-05 0.320 None 1.000 2 0 2007 2008
Entrez Id: 471
Gene Symbol: ATIC
ATIC
P31939 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase Enzyme 100 0.576 0.731 3.0E-19 0.300 None 1.000 1 0 2004 2004
Entrez Id: 23746
Gene Symbol: AIPL1
AIPL1
Q9NZN9 aryl hydrocarbon receptor interacting protein like 1 Chaperone 65 0.644 0.346 1.2E-05 0.200 None 1.000 16 0 2000 2019
Entrez Id: 3000
Gene Symbol: GUCY2D
GUCY2D
Q02846 guanylate cyclase 2D, retinal Kinase 121 0.570 0.769 6.5E-10 0.200 None 1.000 10 1 2002 2019
Entrez Id: 80184
Gene Symbol: CEP290
CEP290
O15078 centrosomal protein 290 196 0.517 0.769 1.1E-60 0.190 None 1.000 9 4 2006 2018
Entrez Id: 6103
Gene Symbol: RPGR
RPGR
Q92834 retinitis pigmentosa GTPase regulator 167 0.536 0.692 1.00 0.180 None 1.000 8 0 2002 2019
Entrez Id: 1201
Gene Symbol: CLN3
CLN3
Q13286 CLN3 lysosomal/endosomal transmembrane protein, battenin Transporter 120 0.572 0.692 1.3E-07 0.180 None 1.000 8 0 1996 2018
Entrez Id: 6010
Gene Symbol: RHO
RHO
P08100 rhodopsin G-protein coupled receptor 178 0.525 0.769 1.3E-04 0.170 None 1.000 7 2 2002 2018
Entrez Id: 4942
Gene Symbol: OAT
OAT
P04181 ornithine aminotransferase Enzyme 92 0.593 0.731 7.7E-07 0.160 None 1.000 6 0 1988 1997
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
P78363 ATP binding cassette subfamily A member 4 Transporter 227 0.493 0.769 5.3E-48 0.150 None 1.000 5 1 2004 2017
Entrez Id: 23418
Gene Symbol: CRB1
CRB1
P82279 crumbs cell polarity complex component 1 116 0.570 0.654 5.6E-16 0.140 None 1.000 4 0 2002 2019
Entrez Id: 1406
Gene Symbol: CRX
CRX
O43186 cone-rod homeobox Transcription factor 128 0.565 0.692 0.51 0.130 None 1.000 3 0 2001 2018
Entrez Id: 114548
Gene Symbol: NLRP3
NLRP3
Q96P20 NLR family pyrin domain containing 3 805 0.361 0.962 8.1E-04 0.130 None 1.000 3 0 2018 2019
Entrez Id: 768206
Gene Symbol: PRCD
PRCD
Q00LT1 photoreceptor disc component 40 0.700 0.269 1.6E-02 0.130 None 1.000 3 0 1998 2019
Entrez Id: 7078
Gene Symbol: TIMP3
TIMP3
P35625 TIMP metallopeptidase inhibitor 3 Enzyme modulator 325 0.445 0.923 0.63 0.120 None 1.000 2 0 1996 2000
Entrez Id: 26121
Gene Symbol: PRPF31
PRPF31
Q8WWY3 pre-mRNA processing factor 31 Nucleic acid binding 150 0.531 0.731 0.98 0.120 None 1.000 2 0 2012 2012
Entrez Id: 7840
Gene Symbol: ALMS1
ALMS1
Q8TCU4 ALMS1 centrosome and basal body associated protein 147 0.559 0.808 4.5E-60 0.120 None 1.000 2 1 2009 2015
Entrez Id: 145226
Gene Symbol: RDH12
RDH12
Q96NR8 retinol dehydrogenase 12 Enzyme 56 0.650 0.308 2.3E-09 0.120 None 1.000 2 0 2007 2008
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
P35498 sodium voltage-gated channel alpha subunit 1 Ion channel 287 0.477 0.808 1.00 0.120 None 1.000 2 1 2009 2018
Entrez Id: 9227
Gene Symbol: LRAT
LRAT
O95237 lecithin retinol acyltransferase 84 0.608 0.654 2.8E-02 0.120 None 1.000 2 0 2007 2014
Entrez Id: 2979
Gene Symbol: GUCA1B
GUCA1B
Q9UMX6 guanylate cyclase activator 1B 41 0.682 0.423 2.1E-04 0.120 None 1.000 2 1 2015 2018
Entrez Id: 4724
Gene Symbol: NDUFS4
NDUFS4
O43181 NADH:ubiquinone oxidoreductase subunit S4 137 0.587 0.808 3.1E-04 0.120 None 1.000 2 0 2017 2017
Entrez Id: 4041
Gene Symbol: LRP5
LRP5
O75197 LDL receptor related protein 5 283 0.485 0.846 0.51 0.120 None 1.000 2 0 2008 2011
Entrez Id: 7401
Gene Symbol: CLRN1
CLRN1
P58418 clarin 1 77 0.633 0.423 1.7E-08 0.110 None 1.000 1 0 2019 2019