| 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. | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
membrane frizzled-related protein | 0.621 | 0.538 | 1.3E-15 |
|
group | 0.100 | None | 0 | 3 | |||||||||||
|
retinoid isomerohydrolase RPE65 | 0.417 | 0.808 | 6.5E-14 |
|
group | 0.500 | None | 1.000 | 2 | 2 | 1997 | 2019 | ||||||||
|
interphotoreceptor matrix proteoglycan 2 | 0.659 | 0.308 | 2.8E-13 |
|
group | 0.100 | None | 1.000 | 1 | 4 | 2010 | 2010 | ||||||||
|
RP1 axonemal microtubule associated | 0.663 | 0.462 | 4.4E-13 |
|
group | 0.110 | None | 1.000 | 1 | 7 | 2019 | 2019 | ||||||||
|
FAM161 centrosomal protein A | 0.691 | 0.308 | 5.1E-13 |
|
group | 0.100 | None | 1.000 | 1 | 3 | 2019 | 2019 | ||||||||
|
IQ motif containing B1 | 0.641 | 0.654 | 1.4E-12 |
|
group | 0.110 | None | 1.000 | 1 | 4 | 2005 | 2018 | ||||||||
|
Bardet-Biedl syndrome 10 | 0.644 | 0.538 | 1.7E-12 |
|
group | 0.100 | None | 0 | 1 | |||||||||||
|
bestrophin 1 | 0.465 | 0.885 | 1.8E-12 |
|
group | 0.130 | None | 1.000 | 1 | 1 | 2009 | 2016 | ||||||||
|
Bardet-Biedl syndrome 1 | 0.593 | 0.692 | 3.4E-12 |
|
group | 0.100 | None | 1.000 | 2 | 1 | 2002 | 2016 | ||||||||
|
MER proto-oncogene, tyrosine kinase | 0.531 | 0.692 | 2.7E-11 |
|
group | 0.120 | None | 1.000 | 0 | 1 | 2000 | 2010 | ||||||||
|
cyclic nucleotide gated channel subunit alpha 1 | 0.695 | 0.269 | 2.8E-11 |
|
group | 0.100 | None | 0 | 1 | |||||||||||
|
calcium binding protein 4 | 0.711 | 0.154 | 1.7E-10 |
|
group | 0.100 | None | 0 | 1 | |||||||||||
|
collagen type XVIII alpha 1 chain | 0.449 | 0.808 | 1.7E-10 |
|
group | 0.100 | None | 0 | 6 | |||||||||||
|
retinal G protein coupled receptor | 0.691 | 0.385 | 2.4E-10 |
|
group | 0.110 | None | 1.000 | 1 | 1 | 1999 | 2016 | ||||||||
|
NIPA like domain containing 1 | 0.760 | 0.346 | 2.5E-10 |
|
group | 0.100 | None | 0 | 1 | |||||||||||
|
guanylate cyclase 2D, retinal | 0.570 | 0.769 | 6.5E-10 |
|
group | 0.110 | None | 1.000 | 1 | 2 | 2001 | 2020 | ||||||||
|
retinol dehydrogenase 12 | 0.650 | 0.308 | 2.3E-09 |
|
group | 0.460 | None | 1.000 | 1 | 2 | 2004 | 2019 | ||||||||
|
ADP ribosylation factor like GTPase 13B | 0.631 | 0.538 | 2.7E-09 |
|
group | 0.100 | None | 0 | 1 | |||||||||||
|
Bardet-Biedl syndrome 7 | 0.682 | 0.462 | 7.1E-09 |
|
group | 0.100 | None | 0 | 1 | |||||||||||
|
clarin 1 | 0.633 | 0.423 | 1.7E-08 |
|
group | 0.100 | None | 0 | 1 | |||||||||||
|
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 | ||||||||
|
Bardet-Biedl syndrome 12 | 0.674 | 0.462 | 2.3E-07 |
|
group | 0.100 | None | 0 | 1 | |||||||||||
|
cilia and flagella associated protein 410 | 0.633 | 0.615 | 3.3E-07 |
|
group | 0.110 | None | 1.000 | 0 | 2 | 2015 | 2015 | ||||||||
|
cadherin related 23 | 0.539 | 0.769 | 3.2E-06 |
|
group | 0.100 | None | 0 | 1 |