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. | ||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
prominin 1 | 0.410 | 0.846 | 1.9E-22 |
|
group | 0.110 | None | 1.000 | 7 | 11 | 2008 | 2016 | ||||||||
|
retinoid isomerohydrolase RPE65 | 0.417 | 0.808 | 6.5E-14 |
|
group | 0.500 | None | 1.000 | 2 | 2 | 1997 | 2019 | ||||||||
|
collagen type XVIII alpha 1 chain | 0.449 | 0.808 | 1.7E-10 |
|
group | 0.100 | None | 0 | 6 | |||||||||||
|
bestrophin 1 | 0.465 | 0.885 | 1.8E-12 |
|
group | 0.130 | None | 1.000 | 1 | 1 | 2009 | 2016 | ||||||||
|
LDL receptor related protein 2 | 0.491 | 0.846 | 1.00 |
|
group | 0.100 | None | 0 | 2 | |||||||||||
|
ATP binding cassette subfamily A member 4 | 0.493 | 0.769 | 5.3E-48 |
|
group | 0.200 | None | 0.967 | 18 | 34 | 1997 | 2019 | ||||||||
|
centrosomal protein 290 | 0.517 | 0.769 | 1.1E-60 |
|
group | 0.160 | None | 1.000 | 1 | 6 | 2007 | 2018 | ||||||||
|
cyclin dependent kinase like 5 | 0.522 | 0.692 | 1.00 |
|
group | 0.100 | None | 1.000 | 1 | 1 | 2016 | 2016 | ||||||||
|
solute carrier family 19 member 1 | 0.523 | 0.692 | 6.5E-06 |
|
group | 0.100 | None | 0 | 4 | |||||||||||
|
pre-mRNA processing factor 31 | 0.531 | 0.731 | 0.98 |
|
group | 0.110 | None | 1.000 | 1 | 6 | 2015 | 2016 | ||||||||
|
MER proto-oncogene, tyrosine kinase | 0.531 | 0.692 | 2.7E-11 |
|
group | 0.120 | None | 1.000 | 0 | 1 | 2000 | 2010 | ||||||||
|
retinitis pigmentosa GTPase regulator | 0.536 | 0.692 | 1.00 |
|
group | 0.460 | None | 1.000 | 1 | 3 | 2002 | 2019 | ||||||||
|
cadherin related 23 | 0.539 | 0.769 | 3.2E-06 |
|
group | 0.100 | None | 0 | 1 | |||||||||||
|
peroxisomal biogenesis factor 6 | 0.547 | 0.731 | 6.3E-06 |
|
group | 0.100 | None | 0 | 2 | |||||||||||
|
peripherin 2 | 0.551 | 0.500 | 0.12 |
|
group | 0.170 | None | 1.000 | 1 | 2 | 1998 | 2017 | ||||||||
|
RPGR interacting protein 1 | 0.553 | 0.654 | 1.3E-23 |
|
group | 0.420 | None | 1.000 | 0 | 6 | 2002 | 2006 | ||||||||
|
ALMS1 centrosome and basal body associated protein | 0.559 | 0.808 | 4.5E-60 |
|
group | 0.100 | None | 0 | 1 | |||||||||||
|
Bardet-Biedl syndrome 2 | 0.565 | 0.654 | 1.0E-17 |
|
group | 0.100 | None | 1.000 | 1 | 1 | 2019 | 2019 | ||||||||
|
cone-rod homeobox | 0.565 | 0.692 | 0.51 |
|
group | 0.110 | None | 1.000 | 0 | 2 | 2014 | 2014 | ||||||||
|
crumbs cell polarity complex component 1 | 0.570 | 0.654 | 5.6E-16 |
|
group | 0.200 | None | 1.000 | 4 | 12 | 1999 | 2019 | ||||||||
|
guanylate cyclase 2D, retinal | 0.570 | 0.769 | 6.5E-10 |
|
group | 0.110 | None | 1.000 | 1 | 2 | 2001 | 2020 | ||||||||
|
adhesion G protein-coupled receptor V1 | 0.572 | 0.731 | 3.2E-39 |
|
group | 0.100 | None | 0 | 1 | |||||||||||
|
usherin | 0.579 | 0.692 | 1.6E-94 |
|
group | 0.110 | None | 1.000 | 3 | 10 | 2000 | 2018 | ||||||||
|
vacuolar protein sorting 13 homolog B | 0.579 | 0.769 | 2.5E-45 |
|
group | 0.110 | None | 1.000 | 0 | 2 | 2016 | 2016 | ||||||||
|
phosphoribosyl pyrophosphate synthetase 1 | 0.584 | 0.731 | 0.92 |
|
group | 0.400 | strong | 1.000 | 0 | 4 | 2018 | 2018 |