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. | ||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
T-box transcription factor 5 | 0.528 | 0.769 | 1.00 |
|
group | 0.060 | None | 0.833 | 6 | 1 | 2003 | 2019 | ||||||||
|
retinoid isomerohydrolase RPE65 | 0.417 | 0.808 | 6.5E-14 |
|
group | 0.030 | None | 1.000 | 3 | 0 | 2011 | 2016 | ||||||||
|
cytoskeleton associated protein 4 | 0.436 | 0.731 | 0.51 |
|
group | 0.030 | None | 1.000 | 3 | 0 | 2011 | 2016 | ||||||||
|
UV radiation resistance associated | 0.436 | 0.769 | 0.99 |
|
group | 0.030 | None | 1.000 | 3 | 0 | 2011 | 2016 | ||||||||
|
tumor protein p63 | 0.362 | 0.769 | 1.00 |
|
group | 0.030 | None | 1.000 | 3 | 0 | 2011 | 2016 | ||||||||
|
NIPBL cohesin loading factor | 0.521 | 0.808 | 1.00 |
|
group | 0.020 | None | 1.000 | 2 | 0 | 2014 | 2016 | ||||||||
|
Adams-Oliver syndrome | 0.792 | 0.462 |
|
group | 0.020 | None | 1.000 | 2 | 0 | 2014 | 2017 | |||||||||
|
basic helix-loop-helix family member a9 | 0.644 | 0.269 | 0.30 |
|
group | 0.020 | None | 1.000 | 2 | 0 | 2014 | 2014 | ||||||||
|
spalt like transcription factor 4 | 0.489 | 0.769 | 1.00 |
|
group | 0.020 | None | 0.500 | 2 | 0 | 2002 | 2018 | ||||||||
|
Rac family small GTPase 1 | 0.429 | 0.962 | 0.76 |
|
group | 0.020 | None | 1.000 | 2 | 0 | 2013 | 2019 | ||||||||
|
thrombopoietin | 0.513 | 0.692 | 0.20 |
|
group | 0.020 | None | 1.000 | 2 | 0 | 2009 | 2012 | ||||||||
|
S100 calcium binding protein A9 | 0.433 | 0.885 | 0.48 |
|
group | 0.010 | None | 1.000 | 1 | 0 | 1998 | 1998 | ||||||||
|
S13 erythroblastosis (avian) oncogene homolog | 0.606 | 0.615 |
|
group | 0.010 | None | 1.000 | 1 | 0 | 1997 | 1997 | |||||||||
|
nectin cell adhesion molecule 1 | 0.523 | 0.808 | 6.1E-02 |
|
group | 0.010 | None | 1.000 | 1 | 0 | 2014 | 2014 | ||||||||
|
Rho GTPase activating protein 31 | 0.581 | 0.615 | 1.00 |
|
group | 0.010 | None | 1.000 | 1 | 0 | 2014 | 2014 | ||||||||
|
heat shock protein family B (small) member 2 | 0.457 | 0.769 | 3.3E-04 |
|
group | 0.010 | None | 1.000 | 1 | 0 | 2005 | 2005 | ||||||||
|
chromodomain helicase DNA binding protein 7 | 0.441 | 0.846 | 1.00 |
|
group | 0.010 | None | 1.000 | 1 | 0 | 2007 | 2007 | ||||||||
|
mitogen-activated protein kinase kinase kinase 20 | 0.564 | 0.769 | 8.4E-09 |
|
group | 0.010 | None | 1.000 | 1 | 0 | 2016 | 2016 | ||||||||
|
splicing factor 3b subunit 6 | 0.544 | 0.808 | 0.59 |
|
group | 0.010 | None | 1.000 | 1 | 0 | 1998 | 1998 | ||||||||
|
proprotein convertase subtilisin/kexin type 5 | 0.659 | 0.538 | 2.5E-12 |
|
group | 0.010 | None | 1.000 | 1 | 0 | 2017 | 2017 | ||||||||
|
eukaryotic translation initiation factor 4A3 | 0.608 | 0.500 | 1.00 |
|
group | 0.010 | None | 1.000 | 1 | 0 | 2014 | 2014 | ||||||||
|
forkhead box L2 | 0.542 | 0.692 | 0.88 |
|
group | 0.010 | None | 1.000 | 1 | 0 | 2000 | 2000 | ||||||||
|
T-box transcription factor 3 | 0.525 | 0.769 | 0.99 |
|
group | 0.010 | None | 1.000 | 1 | 0 | 2009 | 2009 | ||||||||
|
T-box transcription factor 4 | 0.576 | 0.731 | 0.50 |
|
group | 0.010 | None | 1.000 | 1 | 0 | 2011 | 2011 | ||||||||
|
heat shock protein family B (small) member 3 | 0.448 | 0.769 | 6.1E-05 |
|
group | 0.010 | None | 1.000 | 1 | 0 | 2005 | 2005 |