| 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. | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
dehydrodolichyl diphosphate synthase subunit | 0.468 | 0.885 | 0.25 |
|
disease | 0.430 | strong | 1.000 | 6 | 1 | 2011 | 2018 | ||||||||
|
carbonic anhydrase 4 | 0.674 | 0.577 | 7.1E-06 |
|
disease | 0.470 | moderate | 1.000 | 2 | 1 | 1997 | 2010 | ||||||||
|
Bardet-Biedl syndrome 12 | 0.674 | 0.462 | 2.3E-07 |
|
disease | 0.110 | None | 1.000 | 1 | 1 | 2016 | 2019 | ||||||||
|
ADP ribosylation factor like GTPase 6 | 0.636 | 0.462 | 1.0E-02 |
|
disease | 0.610 | strong | 1.000 | 1 | 1 | 2009 | 2013 | ||||||||
|
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 | ||||||||
|
CHM Rab escort protein | 0.592 | 0.654 | 1.00 |
|
disease | 0.440 | strong | 1.000 | 1 | 1 | 2008 | 2019 | ||||||||
|
pantothenate kinase 2 | 0.559 | 0.808 | 7.4E-07 |
|
disease | 0.110 | None | 1.000 | 1 | 1 | 2003 | 2015 | ||||||||
|
cyclic nucleotide gated channel subunit beta 3 | 0.633 | 0.192 | 7.8E-19 |
|
disease | 0.100 | None | 1.000 | 1 | 1 | 2019 | 2019 | ||||||||
|
CDH23 antisense RNA 1 | 0.839 | 0.192 |
|
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 | ||||||||
|
kizuna centrosomal protein | 0.722 | 0.308 |
|
disease | 0.400 | None | 1.000 | 0 | 1 | 2014 | 2014 | |||||||||
|
pre-mRNA processing factor 3 | 0.695 | 0.385 | 1.00 |
|
disease | 0.450 | strong | 1.000 | 0 | 1 | 2002 | 2019 | ||||||||
|
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 | ||||||||
|
pre-mRNA processing factor 6 | 0.621 | 0.538 | 3.2E-03 |
|
disease | 0.420 | strong | 1.000 | 0 | 1 | 2011 | 2012 | ||||||||
|
Bardet-Biedl syndrome 4 | 0.647 | 0.615 | 1.5E-16 |
|
disease | 0.120 | None | 1.000 | 0 | 1 | 2002 | 2005 | ||||||||
|
RPGR interacting protein 1 | 0.553 | 0.654 | 1.3E-23 |
|
disease | 0.680 | strong | 1.000 | 0 | 1 | 2004 | 2017 | ||||||||
|
neural retina leucine zipper | 0.647 | 0.462 | 4.8E-02 |
|
disease | 0.670 | strong | 0.750 | 0 | 1 | 1999 | 2017 | ||||||||
|
visual system homeobox 2 | 0.695 | 0.462 | 1.6E-04 |
|
disease | 0.100 | None | 0 | 1 | |||||||||||
|
lecithin retinol acyltransferase | 0.608 | 0.654 | 2.8E-02 |
|
disease | 0.710 | strong | 1.000 | 0 | 1 | 2007 | 2018 | ||||||||
|
inosine monophosphate dehydrogenase 1 | 0.623 | 0.462 | 5.8E-06 |
|
disease | 0.700 | strong | 1.000 | 0 | 1 | 2002 | 2020 | ||||||||
|
retinal outer segment membrane protein 1 | 0.579 | 0.654 | 4.1E-04 |
|
disease | 0.700 | limited | 1.000 | 0 | 1 | 1992 | 2017 | ||||||||
|
tubulin tyrosine ligase like 5 | 0.686 | 0.500 | 2.9E-22 |
|
disease | 0.100 | None | 0 | 1 | |||||||||||
|
Bardet-Biedl syndrome 5 | 0.659 | 0.577 | 4.8E-06 |
|
disease | 0.100 | None | 0 | 1 | |||||||||||
|
solute carrier family 19 member 1 | 0.523 | 0.692 | 6.5E-06 |
|
disease | 0.100 | None | 0 | 1 |