| 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. | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
Bardet-Biedl syndrome 10 | 0.644 | 0.538 | 1.7E-12 |
|
disease | 0.100 | None | 1.000 | 1 | 2 | 2006 | 2006 | ||||||||
|
USH1 protein network component harmonin | 0.628 | 0.538 | 4.0E-18 |
|
disease | 0.110 | None | 1.000 | 1 | 2 | 2011 | 2019 | ||||||||
|
RCC1 and BTB domain containing protein 1 | 0.572 | 0.692 | 1.6E-06 |
|
disease | 0.100 | None | 1.000 | 1 | 4 | 2016 | 2016 | ||||||||
|
cadherin related 23 | 0.539 | 0.769 | 3.2E-06 |
|
disease | 0.130 | None | 1.000 | 1 | 2 | 2002 | 2019 | ||||||||
|
cyclic nucleotide gated channel subunit beta 3 | 0.633 | 0.192 | 7.8E-19 |
|
disease | 0.100 | None | 1.000 | 1 | 1 | 2019 | 2019 | ||||||||
|
CLN3 lysosomal/endosomal transmembrane protein, battenin | 0.572 | 0.692 | 1.3E-07 |
|
disease | 0.410 | strong | 1.000 | 1 | 4 | 2000 | 2014 | ||||||||
|
pantothenate kinase 2 | 0.559 | 0.808 | 7.4E-07 |
|
disease | 0.110 | None | 1.000 | 1 | 1 | 2003 | 2015 | ||||||||
|
CLRN1 antisense RNA 1 | 0.821 | 0.269 |
|
disease | 0.100 | None | 1.000 | 1 | 2 | 2002 | 2002 | |||||||||
|
Bardet-Biedl syndrome 2 | 0.565 | 0.654 | 1.0E-17 |
|
disease | 0.420 | None | 1.000 | 1 | 4 | 2015 | 2019 | ||||||||
|
CDH23 antisense RNA 1 | 0.839 | 0.192 |
|
disease | 0.100 | None | 1.000 | 1 | 1 | 2019 | 2019 | |||||||||
|
bestrophin 1 | 0.465 | 0.885 | 1.8E-12 |
|
disease | 0.430 | strong | 1.000 | 1 | 3 | 2009 | 2019 | ||||||||
|
retinaldehyde binding protein 1 | 0.644 | 0.500 | 1.1E-05 |
|
disease | 0.440 | strong | 0.800 | 1 | 3 | 1990 | 2015 | ||||||||
|
clarin 1 | 0.633 | 0.423 | 1.7E-08 |
|
disease | 0.660 | None | 1.000 | 1 | 2 | 2002 | 2019 | ||||||||
|
CHM Rab escort protein | 0.592 | 0.654 | 1.00 |
|
disease | 0.440 | strong | 1.000 | 1 | 1 | 2008 | 2019 | ||||||||
|
RP2 activator of ARL3 GTPase | 0.670 | 0.346 | 0.96 |
|
disease | 0.680 | strong | 1.000 | 1 | 5 | 1999 | 2019 | ||||||||
|
pre-mRNA processing factor 8 | 0.631 | 0.615 | 1.00 |
|
disease | 0.500 | strong | 1.000 | 1 | 2 | 2001 | 2018 | ||||||||
|
retinoid isomerohydrolase RPE65 | 0.417 | 0.808 | 6.5E-14 |
|
disease | 0.800 | moderate | 1.000 | 1 | 5 | 1998 | 2019 | ||||||||
|
centrosomal protein 290 | 0.517 | 0.769 | 1.1E-60 |
|
disease | 0.150 | None | 1.000 | 1 | 4 | 2006 | 2019 | ||||||||
|
nuclear receptor subfamily 2 group E member 3 | 0.603 | 0.500 |
|
disease | 0.480 | strong | 1.000 | 1 | 6 | 2007 | 2019 | |||||||||
|
IQ motif containing B1 | 0.641 | 0.654 | 1.4E-12 |
|
disease | 0.130 | None | 1.000 | 1 | 2 | 2005 | 2019 | ||||||||
|
small nuclear ribonucleoprotein U5 subunit 200 | 0.695 | 0.500 | 1.00 |
|
disease | 0.500 | strong | 1.000 | 1 | 4 | 2006 | 2019 | ||||||||
|
cadherin related family member 1 | 0.670 | 0.308 | 2.8E-21 |
|
disease | 0.400 | None | 1.000 | 1 | 2 | 2010 | 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 | ||||||||
|
guanylate cyclase activator 1A | 0.647 | 0.500 | 4.1E-04 |
|
disease | 0.140 | None | 1.000 | 1 | 1 | 1998 | 2013 | ||||||||
|
Bardet-Biedl syndrome 12 | 0.674 | 0.462 | 2.3E-07 |
|
disease | 0.110 | None | 1.000 | 1 | 1 | 2016 | 2019 |