| 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. | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
NIPA like domain containing 1 | 0.760 | 0.346 | 2.5E-10 |
|
disease | 0.100 | None | 1.000 | 6 | 8 | 1995 | 2019 | ||||||||
|
PHD finger protein 3 | 0.760 | 0.192 | 0.99 |
|
disease | 0.100 | None | 1.000 | 2 | 13 | 2018 | 2019 | ||||||||
|
peripherin 2 | 0.551 | 0.500 | 0.12 |
|
disease | 0.200 | None | 0.974 | 2 | 9 | 1991 | 2019 | ||||||||
|
zinc finger DHHC-type containing 24 | 0.722 | 0.462 | 4.2E-04 |
|
disease | 0.100 | None | 1.000 | 2 | 2 | 2002 | 2019 | ||||||||
|
phytanoyl-CoA 2-hydroxylase | 0.659 | 0.577 | 2.4E-06 |
|
disease | 0.100 | None | 1.000 | 2 | 2 | 1997 | 2004 | ||||||||
|
guanylate cyclase activator 1A | 0.647 | 0.500 | 4.1E-04 |
|
disease | 0.140 | None | 1.000 | 1 | 1 | 1998 | 2013 | ||||||||
|
Bardet-Biedl syndrome 2 | 0.565 | 0.654 | 1.0E-17 |
|
disease | 0.420 | None | 1.000 | 1 | 4 | 2015 | 2019 | ||||||||
|
Bardet-Biedl syndrome 12 | 0.674 | 0.462 | 2.3E-07 |
|
disease | 0.110 | None | 1.000 | 1 | 1 | 2016 | 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 | ||||||||
|
IQ motif containing B1 | 0.641 | 0.654 | 1.4E-12 |
|
disease | 0.130 | None | 1.000 | 1 | 2 | 2005 | 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 | ||||||||
|
S-phase cyclin A associated protein in the ER | 0.653 | 0.500 | 8.8E-03 |
|
disease | 0.410 | None | 1.000 | 1 | 1 | 2017 | 2019 | ||||||||
|
myosin VIIA | 0.585 | 0.423 | 1.6E-38 |
|
disease | 0.180 | None | 1.000 | 1 | 2 | 1996 | 2019 | ||||||||
|
cadherin related 23 | 0.539 | 0.769 | 3.2E-06 |
|
disease | 0.130 | None | 1.000 | 1 | 2 | 2002 | 2019 | ||||||||
|
centrosomal protein 290 | 0.517 | 0.769 | 1.1E-60 |
|
disease | 0.150 | None | 1.000 | 1 | 4 | 2006 | 2019 | ||||||||
|
CDH23 antisense RNA 1 | 0.839 | 0.192 |
|
disease | 0.100 | None | 1.000 | 1 | 1 | 2019 | 2019 | |||||||||
|
cadherin related family member 1 | 0.670 | 0.308 | 2.8E-21 |
|
disease | 0.400 | None | 1.000 | 1 | 2 | 2010 | 2019 | ||||||||
|
pantothenate kinase 2 | 0.559 | 0.808 | 7.4E-07 |
|
disease | 0.110 | None | 1.000 | 1 | 1 | 2003 | 2015 | ||||||||
|
USH1 protein network component harmonin | 0.628 | 0.538 | 4.0E-18 |
|
disease | 0.110 | None | 1.000 | 1 | 2 | 2011 | 2019 | ||||||||
|
CLRN1 antisense RNA 1 | 0.821 | 0.269 |
|
disease | 0.100 | None | 1.000 | 1 | 2 | 2002 | 2002 | |||||||||
|
Bardet-Biedl syndrome 10 | 0.644 | 0.538 | 1.7E-12 |
|
disease | 0.100 | None | 1.000 | 1 | 2 | 2006 | 2006 | ||||||||
|
clarin 1 | 0.633 | 0.423 | 1.7E-08 |
|
disease | 0.660 | None | 1.000 | 1 | 2 | 2002 | 2019 | ||||||||
|
intraflagellar transport 140 | 0.572 | 0.692 | 9.9E-24 |
|
disease | 0.420 | None | 1.000 | 1 | 2 | 2015 | 2016 | ||||||||
|
RP1 like 1 | 0.780 | 0.154 | 1.8E-10 |
|
disease | 0.110 | None | 1.000 | 0 | 2 | 2013 | 2013 | ||||||||
|
visual system homeobox 2 | 0.695 | 0.462 | 1.6E-04 |
|
disease | 0.100 | None | 0 | 1 |