| 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. | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
retinoid isomerohydrolase RPE65 | 0.417 | 0.808 | 6.5E-14 |
|
disease | 0.300 | limited | 0 | 0 | |||||||||||
|
CF transmembrane conductance regulator | 0.424 | 0.885 | 2.2E-58 |
|
disease | 0.300 | None | 0 | 0 | |||||||||||
|
TSC complex subunit 2 | 0.439 | 0.808 | 1.00 |
|
disease | 0.300 | limited | 0 | 0 | |||||||||||
|
TSC complex subunit 1 | 0.440 | 0.808 | 1.00 |
|
disease | 0.300 | limited | 0 | 0 | |||||||||||
|
von Hippel-Lindau tumor suppressor | 0.443 | 0.846 | 8.0E-02 |
|
disease | 0.300 | limited | 0 | 0 | |||||||||||
|
MKS transition zone complex subunit 1 | 0.505 | 0.769 | 3.4E-16 |
|
disease | 0.340 | None | 1.000 | 0 | 0 | 2007 | 2016 | ||||||||
|
OFD1 centriole and centriolar satellite protein | 0.510 | 0.808 | 0.96 |
|
disease | 0.550 | definitive | 1.000 | 0 | 0 | 2006 | 2017 | ||||||||
|
transmembrane protein 67 | 0.512 | 0.769 | 2.1E-24 |
|
disease | 0.390 | None | 1.000 | 0 | 0 | 2008 | 2018 | ||||||||
|
Abelson helper integration site 1 | 0.513 | 0.846 | 1.1E-25 |
|
disease | 0.340 | None | 1.000 | 0 | 0 | 2013 | 2019 | ||||||||
|
nuclear receptor subfamily 1 group H member 4 | 0.513 | 0.808 | 9.4E-04 |
|
disease | 0.300 | strong | 0 | 0 | |||||||||||
|
centrosomal protein 290 | 0.517 | 0.769 | 1.1E-60 |
|
disease | 0.400 | None | 1.000 | 0 | 0 | 2006 | 2019 | ||||||||
|
uromodulin | 0.520 | 0.846 | 3.1E-17 |
|
disease | 0.310 | None | 1.000 | 0 | 0 | 2014 | 2014 | ||||||||
|
WD repeat domain 35 | 0.525 | 0.692 | 1.0E-22 |
|
disease | 0.330 | None | 1.000 | 0 | 0 | 2012 | 2018 | ||||||||
|
kinesin family member 7 | 0.528 | 0.731 | 2.3E-22 |
|
disease | 0.540 | None | 1.000 | 0 | 0 | 2011 | 2019 | ||||||||
|
growth differentiation factor 1 | 0.529 | 0.692 | 0.41 |
|
disease | 0.300 | None | 0 | 0 | |||||||||||
|
coiled-coil and C2 domain containing 2A | 0.532 | 0.692 | 1.7E-27 |
|
disease | 0.340 | None | 1.000 | 0 | 0 | 2008 | 2016 | ||||||||
|
NK2 homeobox 5 | 0.533 | 0.692 | 0.95 |
|
disease | 0.300 | limited | 0 | 0 | |||||||||||
|
RPGRIP1 like | 0.534 | 0.769 | 4.1E-31 |
|
disease | 0.370 | None | 1.000 | 0 | 0 | 2007 | 2019 | ||||||||
|
retinitis pigmentosa GTPase regulator | 0.536 | 0.692 | 1.00 |
|
disease | 0.330 | None | 1.000 | 0 | 0 | 2008 | 2018 | ||||||||
|
cadherin related 23 | 0.539 | 0.769 | 3.2E-06 |
|
disease | 0.300 | limited | 0 | 0 | |||||||||||
|
transmembrane protein 216 | 0.544 | 0.615 | 1.9E-03 |
|
disease | 0.310 | None | 1.000 | 0 | 0 | 2012 | 2012 | ||||||||
|
polycystin 2, transient receptor potential cation channel | 0.552 | 0.731 | 1.7E-04 |
|
disease | 0.300 | None | 0 | 0 | |||||||||||
|
RPGR interacting protein 1 | 0.553 | 0.654 | 1.3E-23 |
|
disease | 0.320 | limited | 1.000 | 0 | 0 | 2009 | 2011 | ||||||||
|
WD repeat domain 19 | 0.554 | 0.769 | 4.6E-11 |
|
disease | 0.550 | None | 1.000 | 0 | 0 | 2011 | 2018 | ||||||||
|
transmembrane protein 231 | 0.554 | 0.692 | 3.1E-07 |
|
disease | 0.310 | None | 1.000 | 0 | 0 | 2013 | 2013 |