| 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. | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
intraflagellar transport 80 | 0.575 | 0.692 | 1.4E-19 |
|
disease | 0.320 | None | 1.000 | 0 | 0 | 2018 | 2019 | ||||||||
|
photoreceptor cilium actin regulator | 0.674 | 0.346 | 3.0E-18 |
|
disease | 0.300 | limited | 0 | 0 | |||||||||||
|
USH1 protein network component harmonin | 0.628 | 0.538 | 4.0E-18 |
|
disease | 0.300 | limited | 0 | 0 | |||||||||||
|
inversin | 0.619 | 0.538 | 5.6E-18 |
|
disease | 0.310 | None | 1.000 | 0 | 0 | 2018 | 2018 | ||||||||
|
Bardet-Biedl syndrome 2 | 0.565 | 0.654 | 1.0E-17 |
|
disease | 0.360 | None | 1.000 | 0 | 0 | 2011 | 2019 | ||||||||
|
nephrocystin 1 | 0.572 | 0.731 | 1.2E-17 |
|
disease | 0.330 | None | 1.000 | 0 | 0 | 2007 | 2014 | ||||||||
|
uromodulin | 0.520 | 0.846 | 3.1E-17 |
|
disease | 0.310 | None | 1.000 | 0 | 0 | 2014 | 2014 | ||||||||
|
coiled-coil domain containing 40 | 0.656 | 0.538 | 3.8E-17 |
|
disease | 0.300 | limited | 0 | 0 | |||||||||||
|
Bardet-Biedl syndrome 9 | 0.615 | 0.577 | 4.2E-17 |
|
disease | 0.310 | None | 1.000 | 0 | 0 | 2012 | 2012 | ||||||||
|
Bardet-Biedl syndrome 4 | 0.647 | 0.615 | 1.5E-16 |
|
disease | 0.310 | None | 1.000 | 0 | 0 | 2019 | 2019 | ||||||||
|
MKS transition zone complex subunit 1 | 0.505 | 0.769 | 3.4E-16 |
|
disease | 0.340 | None | 1.000 | 0 | 0 | 2007 | 2016 | ||||||||
|
crumbs cell polarity complex component 1 | 0.570 | 0.654 | 5.6E-16 |
|
disease | 0.310 | limited | 1.000 | 0 | 0 | 2017 | 2017 | ||||||||
|
nephrocystin 3 | 0.597 | 0.654 | 9.8E-16 |
|
disease | 0.330 | None | 1.000 | 0 | 0 | 2013 | 2017 | ||||||||
|
tectonic family member 1 | 0.597 | 0.615 | 1.1E-15 |
|
disease | 0.300 | None | 0 | 0 | |||||||||||
|
tectonic family member 2 | 0.578 | 0.654 | 1.8E-14 |
|
disease | 0.310 | None | 1.000 | 0 | 0 | 2018 | 2018 | ||||||||
|
retinoid isomerohydrolase RPE65 | 0.417 | 0.808 | 6.5E-14 |
|
disease | 0.300 | limited | 0 | 0 | |||||||||||
|
spermatogenesis associated 7 | 0.656 | 0.385 | 5.2E-13 |
|
disease | 0.300 | limited | 0 | 0 | |||||||||||
|
IQ motif containing B1 | 0.641 | 0.654 | 1.4E-12 |
|
disease | 0.340 | None | 1.000 | 0 | 0 | 2011 | 2018 | ||||||||
|
Bardet-Biedl syndrome 10 | 0.644 | 0.538 | 1.7E-12 |
|
disease | 0.300 | None | 0 | 0 | |||||||||||
|
transmembrane protein 237 | 0.612 | 0.538 | 1.9E-12 |
|
disease | 0.310 | None | 1.000 | 0 | 0 | 2011 | 2011 | ||||||||
|
Bardet-Biedl syndrome 1 | 0.593 | 0.692 | 3.4E-12 |
|
disease | 0.310 | None | 1.000 | 0 | 0 | 2019 | 2019 | ||||||||
|
coiled-coil domain containing 39 | 0.641 | 0.615 | 7.9E-12 |
|
disease | 0.300 | limited | 0 | 0 | |||||||||||
|
dynein axonemal assembly factor 1 | 0.633 | 0.654 | 8.5E-12 |
|
disease | 0.300 | limited | 0 | 0 | |||||||||||
|
sodium channel epithelial 1 subunit alpha | 0.601 | 0.577 | 1.1E-11 |
|
disease | 0.300 | None | 0 | 0 | |||||||||||
|
serologically defined colon cancer antigen 8 | 0.619 | 0.577 | 1.2E-11 |
|
disease | 0.330 | None | 1.000 | 0 | 0 | 2010 | 2018 |