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: 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 5 2007 2015
Entrez Id: 5961
Gene Symbol: PRPH2
PRPH2
P23942 peripherin 2 152 0.551 0.500 0.12 0.140 None 1.000 4 2 1997 2016
Entrez Id: 63901
Gene Symbol: FAM111A
FAM111A
Q96PZ2 family with sequence similarity 111 member A 64 0.663 0.462 2.2E-03 0.100 None 0 1
Entrez Id: 7439
Gene Symbol: BEST1
BEST1
O76090 bestrophin 1 Ion channel 292 0.465 0.885 1.8E-12 0.090 None 1.000 9 5 1999 2018
Entrez Id: 5362
Gene Symbol: PLXNA2
PLXNA2
O75051 plexin A2 307 0.447 0.808 1.1E-06 0.070 None 1.000 7 0 2017 2019
Entrez Id: 23418
Gene Symbol: CRB1
CRB1
P82279 crumbs cell polarity complex component 1 116 0.570 0.654 5.6E-16 0.050 None 1.000 5 0 2006 2018
Entrez Id: 8842
Gene Symbol: PROM1
PROM1
O43490 prominin 1 Transporter 477 0.410 0.846 1.9E-22 0.040 None 1.000 4 1 2008 2019
Entrez Id: 4658
Gene Symbol: MYP2
MYP2
myopia 2 (high grade, autosomal dominant) 38 0.659 0.308 0.040 None 1.000 4 0 2017 2019
Entrez Id: 6785
Gene Symbol: ELOVL4
ELOVL4
Q9GZR5 ELOVL fatty acid elongase 4 Enzyme 111 0.601 0.577 0.83 0.030 None 1.000 3 0 2010 2016
Entrez Id: 2202
Gene Symbol: EFEMP1
EFEMP1
Q12805 EGF containing fibulin extracellular matrix protein 1 Extracellular structure 153 0.540 0.769 1.00 0.030 None 1.000 3 1 2001 2013
Entrez Id: 7078
Gene Symbol: TIMP3
TIMP3
P35625 TIMP metallopeptidase inhibitor 3 Enzyme modulator 325 0.445 0.923 0.63 0.020 None 1.000 2 0 1997 2010
Entrez Id: 3075
Gene Symbol: CFH
CFH
P08603 complement factor H 393 0.441 0.885 0.86 0.020 None 1.000 2 0 2008 2011
Entrez Id: 5630
Gene Symbol: PRPH
PRPH
P41219 peripherin 73 0.623 0.462 4.8E-14 0.020 None 1.000 2 0 1996 2019
Entrez Id: 7263
Gene Symbol: TST
TST
Q16762 thiosulfate sulfurtransferase Enzyme 91 0.588 0.654 7.9E-05 0.020 None 1.000 2 0 1997 2003
Entrez Id: 256471
Gene Symbol: MFSD8
MFSD8
Q8NHS3 major facilitator superfamily domain containing 8 50 0.682 0.231 2.5E-12 0.020 None 1.000 2 1 2017 2020
Entrez Id: 23746
Gene Symbol: AIPL1
AIPL1
Q9NZN9 aryl hydrocarbon receptor interacting protein like 1 Chaperone 65 0.644 0.346 1.2E-05 0.020 None 1.000 2 2 2004 2006
Entrez Id: 375298
Gene Symbol: CERKL
CERKL
Q49MI3 ceramide kinase like 50 0.678 0.308 9.8E-25 0.020 None 1.000 2 0 2009 2019
Entrez Id: 6120
Gene Symbol: RPE
RPE
Q96AT9 ribulose-5-phosphate-3-epimerase 90 0.575 0.538 2.5E-04 0.010 None 1.000 1 0 2017 2017
Entrez Id: 582
Gene Symbol: BBS1
BBS1
Q8NFJ9 Bardet-Biedl syndrome 1 111 0.593 0.692 3.4E-12 0.010 None 1.000 1 0 2006 2006
Entrez Id: 6121
Gene Symbol: RPE65
RPE65
Q16518 retinoid isomerohydrolase RPE65 Enzyme 431 0.417 0.808 6.5E-14 0.010 None 1.000 1 0 2013 2013
Entrez Id: 5959
Gene Symbol: RDH5
RDH5
Q92781 retinol dehydrogenase 5 Enzyme 49 0.656 0.462 8.9E-11 0.010 None 1.000 1 0 2012 2012
Entrez Id: 64240
Gene Symbol: ABCG5
ABCG5
Q9H222 ATP binding cassette subfamily G member 5 Transporter 108 0.592 0.577 3.1E-21 0.010 None 1.000 1 0 2013 2013
Entrez Id: 9415
Gene Symbol: FADS2
FADS2
O95864 fatty acid desaturase 2 140 0.575 0.692 1.00 0.010 None 1.000 1 0 2013 2013
Entrez Id: 729230
Gene Symbol: CCR2
CCR2
P41597 C-C motif chemokine receptor 2 436 0.418 0.846 2.3E-02 0.010 None 1.000 1 0 2013 2013
Entrez Id: 7422
Gene Symbol: VEGFA
VEGFA
P15692 vascular endothelial growth factor A Signaling 1899 0.266 0.923 2.4E-05 0.010 None 1.000 1 0 2018 2018