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: 157657
Gene Symbol: C8orf37
C8orf37 		Q96NL8 chromosome 8 open reading frame 37 4 0.628 0.538 2.4E-05 0.950 strong 1.000 0 2 2012 2016
Entrez Id: 5158
Gene Symbol: PDE6B
PDE6B 		P35913 phosphodiesterase 6B 4 0.626 0.346 2.6E-27 0.900 strong 1.000 9 18 1992 2019
Entrez Id: 5145
Gene Symbol: PDE6A
PDE6A 		P16499 phosphodiesterase 6A 4 0.691 0.269 6.6E-25 0.900 strong 1.000 6 7 1995 2019
Entrez Id: 6103
Gene Symbol: RPGR
RPGR 		Q92834 retinitis pigmentosa GTPase regulator 13 0.536 0.692 1.00 0.800 strong 1.000 3 23 1995 2019
Entrez Id: 6121
Gene Symbol: RPE65
RPE65 		Q16518 retinoid isomerohydrolase RPE65 Enzyme 10 0.417 0.808 6.5E-14 0.800 moderate 1.000 1 5 1998 2019
Entrez Id: 1406
Gene Symbol: CRX
CRX 		O43186 cone-rod homeobox Transcription factor 7 0.565 0.692 0.51 0.800 strong 1.000 0 3 1997 2018
Entrez Id: 9227
Gene Symbol: LRAT
LRAT 		O95237 lecithin retinol acyltransferase 5 0.608 0.654 2.8E-02 0.710 strong 1.000 0 1 2007 2018
Entrez Id: 7399
Gene Symbol: USH2A
USH2A 		O75445 usherin Enzyme modulator 41 0.579 0.692 1.6E-94 0.700 strong 1.000 16 53 1998 2019
Entrez Id: 346007
Gene Symbol: EYS
EYS 		Q5T1H1 eyes shut homolog 5 0.631 0.538 3.7E-41 0.700 strong 0.974 11 46 2005 2019
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4 		P78363 ATP binding cassette subfamily A member 4 Transporter 30 0.493 0.769 5.3E-48 0.700 strong 0.974 8 19 1998 2019
Entrez Id: 6010
Gene Symbol: RHO
RHO 		P08100 rhodopsin G-protein coupled receptor 22 0.525 0.769 1.3E-04 0.700 strong 0.989 6 20 1978 2020
Entrez Id: 23418
Gene Symbol: CRB1
CRB1 		P82279 crumbs cell polarity complex component 1 10 0.570 0.654 5.6E-16 0.700 strong 0.970 3 13 1999 2019
Entrez Id: 10461
Gene Symbol: MERTK
MERTK 		Q12866 MER proto-oncogene, tyrosine kinase Kinase 3 0.531 0.692 2.7E-11 0.700 strong 1.000 2 4 2000 2019
Entrez Id: 3614
Gene Symbol: IMPDH1
IMPDH1 		P20839 inosine monophosphate dehydrogenase 1 Enzyme 3 0.623 0.462 5.8E-06 0.700 strong 1.000 0 1 2002 2020
Entrez Id: 6094
Gene Symbol: ROM1
ROM1 		Q03395 retinal outer segment membrane protein 1 2 0.579 0.654 4.1E-04 0.700 limited 1.000 0 1 1992 2017
Entrez Id: 1258
Gene Symbol: CNGB1
CNGB1 		Q14028 cyclic nucleotide gated channel subunit beta 1 Ion channel 3 0.628 0.538 1.8E-37 0.680 strong 1.000 6 12 2001 2019
Entrez Id: 6102
Gene Symbol: RP2
RP2 		O75695 RP2 activator of ARL3 GTPase Enzyme 7 0.670 0.346 0.96 0.680 strong 1.000 1 5 1999 2019
Entrez Id: 57096
Gene Symbol: RPGRIP1
RPGRIP1 		Q96KN7 RPGR interacting protein 1 Enzyme modulator 12 0.553 0.654 1.3E-23 0.680 strong 1.000 0 1 2004 2017
Entrez Id: 4901
Gene Symbol: NRL
NRL 		P54845 neural retina leucine zipper Transcription factor 5 0.647 0.462 4.8E-02 0.670 strong 0.750 0 1 1999 2017
Entrez Id: 145226
Gene Symbol: RDH12
RDH12 		Q96NR8 retinol dehydrogenase 12 Enzyme 7 0.650 0.308 2.3E-09 0.660 strong 1.000 1 8 2007 2019
Entrez Id: 7401
Gene Symbol: CLRN1
CLRN1 		P58418 clarin 1 7 0.633 0.423 1.7E-08 0.660 None 1.000 1 2 2002 2019
Entrez Id: 1259
Gene Symbol: CNGA1
CNGA1 		P29973 cyclic nucleotide gated channel subunit alpha 1 Ion channel 6 0.695 0.269 2.8E-11 0.640 strong 1.000 6 8 1995 2019
Entrez Id: 84100
Gene Symbol: ARL6
ARL6 		Q9H0F7 ADP ribosylation factor like GTPase 6 13 0.636 0.462 1.0E-02 0.610 strong 1.000 1 1 2009 2013
Entrez Id: 6101
Gene Symbol: RP1
RP1 		P56715 RP1 axonemal microtubule associated 3 0.663 0.462 4.4E-13 0.500 strong 1.000 6 19 1999 2015
Entrez Id: 84140
Gene Symbol: FAM161A
FAM161A 		Q3B820 FAM161 centrosomal protein A 4 0.691 0.308 5.1E-13 0.500 strong 0.938 6 7 2004 2019