Source: CLINVAR

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: 23469
Gene Symbol: PHF3
PHF3
PHD finger protein 3 0.760 0.192 0.99
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
group 0.100 None 1.000 1 2 2016 2016
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 1 1 2009 2016
Entrez Id: 5949
Gene Symbol: RBP3
RBP3
retinol binding protein 3 0.621 0.500 1.1E-04
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
group 0.110 None 1.000 1 2 2015 2016
Entrez Id: 26121
Gene Symbol: PRPF31
PRPF31
pre-mRNA processing factor 31 0.531 0.731 0.98
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
group 0.110 None 1.000 1 6 2015 2016
Entrez Id: 346007
Gene Symbol: EYS
EYS
eyes shut homolog 0.631 0.538 3.7E-41
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
group 0.100 None 1.000 1 8 2016 2016
Entrez Id: 5995
Gene Symbol: RGR
RGR
retinal G protein coupled receptor 0.691 0.385 2.4E-10
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
group 0.110 None 1.000 1 1 1999 2016
Entrez Id: 157680
Gene Symbol: VPS13B
VPS13B
vacuolar protein sorting 13 homolog B 0.579 0.769 2.5E-45
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
group 0.110 None 1.000 0 2 2016 2016
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 1 2 1998 2017
Entrez Id: 5158
Gene Symbol: PDE6B
PDE6B
phosphodiesterase 6B 0.626 0.346 2.6E-27
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
group 0.110 None 1.000 0 1 2017 2017
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 3 10 2000 2018
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 2 5 2004 2018
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 1 6 2007 2018
Entrez Id: 9657
Gene Symbol: IQCB1
IQCB1
IQ motif containing B1 0.641 0.654 1.4E-12
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
group 0.110 None 1.000 1 4 2005 2018
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 0 1 2014 2018
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 0 4 2018 2018
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 18 34 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 4 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 2 4 2005 2019
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 2 2 1997 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 1 2 2004 2019
Entrez Id: 84140
Gene Symbol: FAM161A
FAM161A
FAM161 centrosomal protein A 0.691 0.308 5.1E-13
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
group 0.100 None 1.000 1 3 2019 2019
Entrez Id: 583
Gene Symbol: BBS2
BBS2
Bardet-Biedl syndrome 2 0.565 0.654 1.0E-17
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
group 0.100 None 1.000 1 1 2019 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 1 3 2002 2019
Entrez Id: 6101
Gene Symbol: RP1
RP1
RP1 axonemal microtubule associated 0.663 0.462 4.4E-13
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
group 0.110 None 1.000 1 7 2019 2019
Entrez Id: 80216
Gene Symbol: ALPK1
ALPK1
alpha kinase 1 0.644 0.615 1.0E-19
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
group 0.100 None 1.000 1 1 2019 2019