| 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. | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
small nuclear ribonucleoprotein U5 subunit 200 | 0.695 | 0.500 | 1.00 |
|
disease | 0.500 | strong | 1.000 | 1 | 4 | 2006 | 2019 | ||||||||
|
pre-mRNA processing factor 8 | 0.631 | 0.615 | 1.00 |
|
disease | 0.500 | strong | 1.000 | 1 | 2 | 2001 | 2018 | ||||||||
|
pre-mRNA processing factor 31 | 0.531 | 0.731 | 0.98 |
|
disease | 0.500 | strong | 1.000 | 0 | 8 | 1996 | 2019 | ||||||||
|
TUB like protein 1 | 0.623 | 0.462 | 5.7E-04 |
|
disease | 0.500 | strong | 1.000 | 0 | 3 | 1998 | 2018 | ||||||||
|
ceramide kinase like | 0.678 | 0.308 | 9.8E-25 |
|
disease | 0.490 | strong | 1.000 | 6 | 3 | 2004 | 2019 | ||||||||
|
nuclear receptor subfamily 2 group E member 3 | 0.603 | 0.500 |
|
disease | 0.480 | strong | 1.000 | 1 | 6 | 2007 | 2019 | |||||||||
|
carbonic anhydrase 4 | 0.674 | 0.577 | 7.1E-06 |
|
disease | 0.470 | moderate | 1.000 | 2 | 1 | 1997 | 2010 | ||||||||
|
male germ cell associated kinase | 0.695 | 0.346 | 8.6E-19 |
|
disease | 0.470 | strong | 1.000 | 0 | 4 | 2010 | 2018 | ||||||||
|
photoreceptor disc component | 0.700 | 0.269 | 1.6E-02 |
|
disease | 0.460 | strong | 1.000 | 0 | 2 | 1998 | 2016 | ||||||||
|
pre-mRNA processing factor 3 | 0.695 | 0.385 | 1.00 |
|
disease | 0.450 | strong | 1.000 | 0 | 1 | 2002 | 2019 | ||||||||
|
photoreceptor cilium actin regulator | 0.674 | 0.346 | 3.0E-18 |
|
disease | 0.440 | strong | 1.000 | 2 | 6 | 2010 | 2015 | ||||||||
|
retinaldehyde binding protein 1 | 0.644 | 0.500 | 1.1E-05 |
|
disease | 0.440 | strong | 0.800 | 1 | 3 | 1990 | 2015 | ||||||||
|
prominin 1 | 0.410 | 0.846 | 1.9E-22 |
|
disease | 0.440 | strong | 1.000 | 1 | 3 | 2007 | 2017 | ||||||||
|
CHM Rab escort protein | 0.592 | 0.654 | 1.00 |
|
disease | 0.440 | strong | 1.000 | 1 | 1 | 2008 | 2019 | ||||||||
|
dehydrodolichyl diphosphate synthase subunit | 0.468 | 0.885 | 0.25 |
|
disease | 0.430 | strong | 1.000 | 6 | 1 | 2011 | 2018 | ||||||||
|
TOP1 binding arginine/serine rich protein | 0.659 | 0.538 | 1.00 |
|
disease | 0.430 | strong | 1.000 | 3 | 2 | 2007 | 2019 | ||||||||
|
Bardet-Biedl syndrome 1 | 0.593 | 0.692 | 3.4E-12 |
|
disease | 0.430 | strong | 1.000 | 3 | 3 | 2002 | 2019 | ||||||||
|
bestrophin 1 | 0.465 | 0.885 | 1.8E-12 |
|
disease | 0.430 | strong | 1.000 | 1 | 3 | 2009 | 2019 | ||||||||
|
cytochrome P450 family 4 subfamily V member 2 | 0.670 | 0.577 | 2.2E-10 |
|
disease | 0.430 | strong | 1.000 | 1 | 1 | 2012 | 2017 | ||||||||
|
ADP ribosylation factor like GTPase 2 binding protein | 0.647 | 0.654 | 3.3E-05 |
|
disease | 0.430 | None | 1.000 | 0 | 1 | 2013 | 2019 | ||||||||
|
kelch like family member 7 | 0.581 | 0.731 | 4.6E-05 |
|
disease | 0.430 | strong | 1.000 | 0 | 3 | 2009 | 2017 | ||||||||
|
Bardet-Biedl syndrome 2 | 0.565 | 0.654 | 1.0E-17 |
|
disease | 0.420 | None | 1.000 | 1 | 4 | 2015 | 2019 | ||||||||
|
intraflagellar transport 140 | 0.572 | 0.692 | 9.9E-24 |
|
disease | 0.420 | None | 1.000 | 1 | 2 | 2015 | 2016 | ||||||||
|
heparan-alpha-glucosaminide N-acetyltransferase | 0.628 | 0.577 | 6.3E-08 |
|
disease | 0.420 | None | 1.000 | 0 | 1 | 2015 | 2017 | ||||||||
|
pre-mRNA processing factor 6 | 0.621 | 0.538 | 3.2E-03 |
|
disease | 0.420 | strong | 1.000 | 0 | 1 | 2011 | 2012 |