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
retinoid isomerohydrolase RPE65 0.417 0.808 6.5E-14
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
group 0.500 None 1.000 22 3 1997 2019
Entrez Id: 6103
Gene Symbol: RPGR
RPGR
retinitis pigmentosa GTPase regulator 0.536 0.692 1.00
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
group 0.460 None 1.000 8 3 2002 2019
Entrez Id: 145226
Gene Symbol: RDH12
RDH12
retinol dehydrogenase 12 0.650 0.308 2.3E-09
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
group 0.460 None 1.000 7 2 2004 2019
Entrez Id: 57096
Gene Symbol: RPGRIP1
RPGRIP1
RPGR interacting protein 1 0.553 0.654 1.3E-23
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
group 0.420 None 1.000 3 6 2002 2006
Entrez Id: 5015
Gene Symbol: OTX2
OTX2
orthodenticle homeobox 2 0.514 0.808 0.92
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
group 0.410 strong 1.000 1 1 2009 2009
Entrez Id: 5631
Gene Symbol: PRPS1
PRPS1
phosphoribosyl pyrophosphate synthetase 1 0.584 0.731 0.92
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
group 0.400 strong 1.000 1 4 2018 2018
Entrez Id: 2527
Gene Symbol: FUT5
FUT5
fucosyltransferase 5 0.760 0.115
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
group 0.300 None 1.000 1 0 2017 2017
Entrez Id: 79883
Gene Symbol: PODNL1
PODNL1
podocan like 1 4.4E-13
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
group 0.300 None 1.000 1 0 2017 2017
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
ATP binding cassette subfamily A member 4 0.493 0.769 5.3E-48
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
group 0.200 None 0.967 30 35 1997 2019
Entrez Id: 23418
Gene Symbol: CRB1
CRB1
crumbs cell polarity complex component 1 0.570 0.654 5.6E-16
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
group 0.200 None 1.000 26 12 1999 2019
Entrez Id: 92211
Gene Symbol: CDHR1
CDHR1
cadherin related family member 1 0.670 0.308 2.8E-21
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
group 0.180 None 1.000 10 4 2005 2019
Entrez Id: 5961
Gene Symbol: PRPH2
PRPH2
peripherin 2 0.551 0.500 0.12
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
group 0.170 None 1.000 8 3 1998 2017
Entrez Id: 80184
Gene Symbol: CEP290
CEP290
centrosomal protein 290 0.517 0.769 1.1E-60
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
group 0.160 None 1.000 7 6 2007 2018
Entrez Id: 7439
Gene Symbol: BEST1
BEST1
bestrophin 1 0.465 0.885 1.8E-12
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
group 0.130 None 1.000 4 1 2009 2016
Entrez Id: 64802
Gene Symbol: NMNAT1
NMNAT1
nicotinamide nucleotide adenylyltransferase 1 0.656 0.269 3.5E-02
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
group 0.130 None 1.000 3 1 2014 2018
Entrez Id: 2202
Gene Symbol: EFEMP1
EFEMP1
EGF containing fibulin extracellular matrix protein 1 0.540 0.769 1.00
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
group 0.130 None 1.000 3 1 2002 2016
Entrez Id: 54806
Gene Symbol: AHI1
AHI1
Abelson helper integration site 1 0.513 0.846 1.1E-25
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
group 0.130 None 1.000 3 0 2006 2010
Entrez Id: 9227
Gene Symbol: LRAT
LRAT
lecithin retinol acyltransferase 0.608 0.654 2.8E-02
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
group 0.130 None 1.000 3 1 2011 2014
Entrez Id: 375298
Gene Symbol: CERKL
CERKL
ceramide kinase like 0.678 0.308 9.8E-25
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
group 0.120 None 1.000 4 5 2004 2018
Entrez Id: 9445
Gene Symbol: ITM2B
ITM2B
integral membrane protein 2B 0.617 0.654 0.63
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
group 0.120 None 1.000 2 0 2014 2019
Entrez Id: 284217
Gene Symbol: LAMA1
LAMA1
laminin subunit alpha 1 0.582 0.808 3.2E-32
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
group 0.120 None 0.500 2 0 2014 2016
Entrez Id: 10461
Gene Symbol: MERTK
MERTK
MER proto-oncogene, tyrosine kinase 0.531 0.692 2.7E-11
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
group 0.120 None 1.000 2 1 2000 2010
Entrez Id: 2978
Gene Symbol: GUCA1A
GUCA1A
guanylate cyclase activator 1A 0.647 0.500 4.1E-04
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
group 0.120 None 1.000 2 2 2005 2019
Entrez Id: 8842
Gene Symbol: PROM1
PROM1
prominin 1 0.410 0.846 1.9E-22
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
group 0.110 None 1.000 8 11 2008 2016
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
usherin 0.579 0.692 1.6E-94
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
group 0.110 None 1.000 4 10 2000 2018