| 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. | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
CLN3 lysosomal/endosomal transmembrane protein, battenin | 0.572 | 0.692 | 1.3E-07 |
|
disease | 0.410 | strong | 1.000 | 0 | 0 | 2000 | 2014 | ||||||||
|
MER proto-oncogene, tyrosine kinase | 0.531 | 0.692 | 2.7E-11 |
|
disease | 0.700 | strong | 1.000 | 0 | 0 | 2000 | 2019 | ||||||||
|
cyclic nucleotide gated channel subunit beta 1 | 0.628 | 0.538 | 1.8E-37 |
|
disease | 0.680 | strong | 1.000 | 0 | 0 | 2001 | 2019 | ||||||||
|
pre-mRNA processing factor 8 | 0.631 | 0.615 | 1.00 |
|
disease | 0.500 | strong | 1.000 | 0 | 0 | 2001 | 2018 | ||||||||
|
Bardet-Biedl syndrome 1 | 0.593 | 0.692 | 3.4E-12 |
|
disease | 0.430 | strong | 1.000 | 2 | 0 | 2002 | 2019 | ||||||||
|
RP9 pre-mRNA splicing factor | 0.670 | 0.500 | 1.9E-02 |
|
disease | 0.320 | strong | 1.000 | 0 | 0 | 2002 | 2017 | ||||||||
|
pre-mRNA processing factor 3 | 0.695 | 0.385 | 1.00 |
|
disease | 0.450 | strong | 1.000 | 0 | 0 | 2002 | 2019 | ||||||||
|
inosine monophosphate dehydrogenase 1 | 0.623 | 0.462 | 5.8E-06 |
|
disease | 0.700 | strong | 1.000 | 0 | 0 | 2002 | 2020 | ||||||||
|
fascin actin-bundling protein 2, retinal | 0.682 | 0.346 | 3.8E-13 |
|
disease | 0.320 | limited | 1.000 | 0 | 0 | 2003 | 2008 | ||||||||
|
guanylate cyclase activator 1B | 0.682 | 0.423 | 2.1E-04 |
|
disease | 0.520 | strong | 1.000 | 1 | 0 | 2004 | 2011 | ||||||||
|
FAM161 centrosomal protein A | 0.691 | 0.308 | 5.1E-13 |
|
disease | 0.500 | strong | 0.938 | 0 | 0 | 2004 | 2019 | ||||||||
|
ceramide kinase like | 0.678 | 0.308 | 9.8E-25 |
|
disease | 0.490 | strong | 1.000 | 0 | 0 | 2004 | 2019 | ||||||||
|
RPGR interacting protein 1 | 0.553 | 0.654 | 1.3E-23 |
|
disease | 0.680 | strong | 1.000 | 0 | 0 | 2004 | 2017 | ||||||||
|
eyes shut homolog | 0.631 | 0.538 | 3.7E-41 |
|
disease | 0.700 | strong | 0.974 | 0 | 0 | 2005 | 2019 | ||||||||
|
guanylate cyclase 2D, retinal | 0.570 | 0.769 | 6.5E-10 |
|
disease | 0.680 | strong | 0.875 | 0 | 0 | 2005 | 2016 | ||||||||
|
aryl hydrocarbon receptor interacting protein like 1 | 0.644 | 0.346 | 1.2E-05 |
|
disease | 0.550 | strong | 1.000 | 0 | 0 | 2005 | 2010 | ||||||||
|
semaphorin 4A | 0.569 | 0.692 | 1.8E-05 |
|
disease | 0.310 | moderate | 1.000 | 1 | 0 | 2006 | 2006 | ||||||||
|
small nuclear ribonucleoprotein U5 subunit 200 | 0.695 | 0.500 | 1.00 |
|
disease | 0.500 | strong | 1.000 | 0 | 0 | 2006 | 2019 | ||||||||
|
retinol dehydrogenase 12 | 0.650 | 0.308 | 2.3E-09 |
|
disease | 0.660 | strong | 1.000 | 1 | 0 | 2007 | 2019 | ||||||||
|
prominin 1 | 0.410 | 0.846 | 1.9E-22 |
|
disease | 0.440 | strong | 1.000 | 0 | 0 | 2007 | 2017 | ||||||||
|
lecithin retinol acyltransferase | 0.608 | 0.654 | 2.8E-02 |
|
disease | 0.710 | strong | 1.000 | 0 | 0 | 2007 | 2018 | ||||||||
|
TOP1 binding arginine/serine rich protein | 0.659 | 0.538 | 1.00 |
|
disease | 0.430 | strong | 1.000 | 0 | 0 | 2007 | 2019 | ||||||||
|
nuclear receptor subfamily 2 group E member 3 | 0.603 | 0.500 |
|
disease | 0.480 | strong | 1.000 | 0 | 0 | 2007 | 2019 | |||||||||
|
CHM Rab escort protein | 0.592 | 0.654 | 1.00 |
|
disease | 0.440 | strong | 1.000 | 0 | 0 | 2008 | 2019 | ||||||||
|
isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta | 0.700 | 0.462 | 3.0E-11 |
|
disease | 0.510 | strong | 1.000 | 0 | 0 | 2008 | 2008 |