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: 1406
Gene Symbol: CRX
CRX
cone-rod homeobox 0.565 0.692 0.51
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
group 0.110 None 1.000 0 2 2014 2014
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: 1259
Gene Symbol: CNGA1
CNGA1
cyclic nucleotide gated channel subunit alpha 1 0.695 0.269 2.8E-11
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
group 0.100 None 0 1
Entrez Id: 1261
Gene Symbol: CNGA3
CNGA3
cyclic nucleotide gated channel subunit alpha 3 0.650 0.154 8.0E-20
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
group 0.110 None 1.000 0 1 2002 2002
Entrez Id: 1258
Gene Symbol: CNGB1
CNGB1
cyclic nucleotide gated channel subunit beta 1 0.628 0.538 1.8E-37
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
group 0.100 None 0 2
Entrez Id: 54714
Gene Symbol: CNGB3
CNGB3
cyclic nucleotide gated channel subunit beta 3 0.633 0.192 7.8E-19
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
group 0.100 None 1.000 1 1 2000 2000
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
cyclin dependent kinase like 5 0.522 0.692 1.00
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
group 0.100 None 1.000 1 1 2016 2016
Entrez Id: 128338
Gene Symbol: DRAM2
DRAM2
DNA damage regulated autophagy modulator 2 0.729 0.462 1.4E-04
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
group 0.110 None 1.000 0 7 2015 2015
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: 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: 3000
Gene Symbol: GUCY2D
GUCY2D
guanylate cyclase 2D, retinal 0.570 0.769 6.5E-10
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
group 0.110 None 1.000 1 2 2001 2020
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 0 1 2005 2019
Entrez Id: 138050
Gene Symbol: HGSNAT
HGSNAT
heparan-alpha-glucosaminide N-acetyltransferase 0.628 0.577 6.3E-08
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
group 0.100 None 1.000 2 3 2006 2009
Entrez Id: 50939
Gene Symbol: IMPG2
IMPG2
interphotoreceptor matrix proteoglycan 2 0.659 0.308 2.8E-13
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
group 0.100 None 1.000 1 4 2010 2010
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: 4036
Gene Symbol: LRP2
LRP2
LDL receptor related protein 2 0.491 0.846 1.00
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
group 0.100 None 0 2
Entrez Id: 167691
Gene Symbol: LCA5
LCA5
lebercilin LCA5 0.674 0.269 4.1E-05
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
group 0.100 None 1.000 2 2 2013 2015
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 0 1 2011 2014
Entrez Id: 85444
Gene Symbol: LRRCC1
LRRCC1
leucine rich repeat and coiled-coil centrosomal protein 1 0.722 0.577 7.2E-21
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
group 0.100 None 0 1
Entrez Id: 83552
Gene Symbol: MFRP
MFRP
membrane frizzled-related protein 0.621 0.538 1.3E-15
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
group 0.100 None 0 3
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 0 1 2000 2010
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
myosin VIIA 0.585 0.423 1.6E-38
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
group 0.100 None 0 3
Entrez Id: 6448
Gene Symbol: SGSH
SGSH
N-sulfoglucosamine sulfohydrolase 0.638 0.692 1.0E-04
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
group 0.100 None 0 2
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: 152519
Gene Symbol: NIPAL1
NIPAL1
NIPA like domain containing 1 0.760 0.346 2.5E-10
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
group 0.100 None 0 1