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. | ||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
ATP binding cassette subfamily A member 4 | 0.493 | 0.769 | 5.3E-48 |
|
group | 0.200 | None | 0.967 | 18 | 34 | 1997 | 2019 | ||||||||
|
prominin 1 | 0.410 | 0.846 | 1.9E-22 |
|
group | 0.110 | None | 1.000 | 7 | 11 | 2008 | 2016 | ||||||||
|
crumbs cell polarity complex component 1 | 0.570 | 0.654 | 5.6E-16 |
|
group | 0.200 | None | 1.000 | 4 | 12 | 1999 | 2019 | ||||||||
|
usherin | 0.579 | 0.692 | 1.6E-94 |
|
group | 0.110 | None | 1.000 | 3 | 10 | 2000 | 2018 | ||||||||
|
POC1 centriolar protein B | 0.705 | 0.385 | 3.0E-08 |
|
group | 0.110 | None | 1.000 | 3 | 1 | 2014 | 2015 | ||||||||
|
heparan-alpha-glucosaminide N-acetyltransferase | 0.628 | 0.577 | 6.3E-08 |
|
group | 0.100 | None | 1.000 | 2 | 3 | 2006 | 2009 | ||||||||
|
retinoid isomerohydrolase RPE65 | 0.417 | 0.808 | 6.5E-14 |
|
group | 0.500 | None | 1.000 | 2 | 2 | 1997 | 2019 | ||||||||
|
lebercilin LCA5 | 0.674 | 0.269 | 4.1E-05 |
|
group | 0.100 | None | 1.000 | 2 | 2 | 2013 | 2015 | ||||||||
|
zinc finger DHHC-type containing 24 | 0.722 | 0.462 | 4.2E-04 |
|
group | 0.100 | None | 1.000 | 2 | 1 | 2002 | 2016 | ||||||||
|
Bardet-Biedl syndrome 1 | 0.593 | 0.692 | 3.4E-12 |
|
group | 0.100 | None | 1.000 | 2 | 1 | 2002 | 2016 | ||||||||
|
ceramide kinase like | 0.678 | 0.308 | 9.8E-25 |
|
group | 0.120 | None | 1.000 | 2 | 5 | 2004 | 2018 | ||||||||
|
cadherin related family member 1 | 0.670 | 0.308 | 2.8E-21 |
|
group | 0.180 | None | 1.000 | 2 | 4 | 2005 | 2019 | ||||||||
|
RP2 activator of ARL3 GTPase | 0.670 | 0.346 | 0.96 |
|
group | 0.100 | None | 1.000 | 2 | 3 | 1999 | 2003 | ||||||||
|
cyclic nucleotide gated channel subunit beta 3 | 0.633 | 0.192 | 7.8E-19 |
|
group | 0.100 | None | 1.000 | 1 | 1 | 2000 | 2000 | ||||||||
|
peripherin 2 | 0.551 | 0.500 | 0.12 |
|
group | 0.170 | None | 1.000 | 1 | 2 | 1998 | 2017 | ||||||||
|
interphotoreceptor matrix proteoglycan 2 | 0.659 | 0.308 | 2.8E-13 |
|
group | 0.100 | None | 1.000 | 1 | 4 | 2010 | 2010 | ||||||||
|
photoreceptor cilium actin regulator | 0.674 | 0.346 | 3.0E-18 |
|
group | 0.100 | None | 1.000 | 1 | 1 | 2010 | 2010 | ||||||||
|
IQ motif containing B1 | 0.641 | 0.654 | 1.4E-12 |
|
group | 0.110 | None | 1.000 | 1 | 4 | 2005 | 2018 | ||||||||
|
Bardet-Biedl syndrome 2 | 0.565 | 0.654 | 1.0E-17 |
|
group | 0.100 | None | 1.000 | 1 | 1 | 2019 | 2019 | ||||||||
|
retinol binding protein 3 | 0.621 | 0.500 | 1.1E-04 |
|
group | 0.110 | None | 1.000 | 1 | 2 | 2015 | 2016 | ||||||||
|
FAM161 centrosomal protein A | 0.691 | 0.308 | 5.1E-13 |
|
group | 0.100 | None | 1.000 | 1 | 3 | 2019 | 2019 | ||||||||
|
centrosomal protein 290 | 0.517 | 0.769 | 1.1E-60 |
|
group | 0.160 | None | 1.000 | 1 | 6 | 2007 | 2018 | ||||||||
|
calcium voltage-gated channel subunit alpha1 F | 0.595 | 0.500 | 1.2E-05 |
|
group | 0.100 | None | 1.000 | 1 | 1 | 2015 | 2015 | ||||||||
|
bestrophin 1 | 0.465 | 0.885 | 1.8E-12 |
|
group | 0.130 | None | 1.000 | 1 | 1 | 2009 | 2016 | ||||||||
|
cyclin dependent kinase like 5 | 0.522 | 0.692 | 1.00 |
|
group | 0.100 | None | 1.000 | 1 | 1 | 2016 | 2016 |