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. | ||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chromodomain helicase DNA binding protein 8 | 0.656 | 0.577 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 4 | 3 | 2012 | 2016 | ||||||||
|
N-acetylglucosamine-1-phosphate transferase subunits alpha and beta | 0.592 | 0.731 | 7.7E-19 |
|
phenotype | 0.100 | None | 1.000 | 3 | 1 | 2006 | 2014 | ||||||||
|
WD repeat domain 45 | 0.647 | 0.423 | 0.99 |
|
phenotype | 0.100 | None | 1.000 | 3 | 2 | 2012 | 2013 | ||||||||
|
eukaryotic translation elongation factor 1 alpha 2 | 0.554 | 0.808 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 3 | 2 | 2012 | 2016 | ||||||||
|
exocyst complex component 6B | 0.682 | 0.577 | 0.12 |
|
phenotype | 0.100 | None | 1.000 | 2 | 1 | 2013 | 2014 | ||||||||
|
potassium voltage-gated channel subfamily Q member 3 | 0.604 | 0.462 | 0.80 |
|
phenotype | 0.100 | None | 1.000 | 2 | 1 | 2012 | 2013 | ||||||||
|
abnormal spindle microtubule assembly | 0.526 | 0.769 | 3.4E-49 |
|
phenotype | 0.100 | None | 1.000 | 2 | 4 | 2002 | 2009 | ||||||||
|
TBC1 domain family member 24 | 0.530 | 0.808 | 1.3E-08 |
|
phenotype | 0.100 | None | 1.000 | 2 | 9 | 2014 | 2014 | ||||||||
|
kinesin family member 11 | 0.560 | 0.769 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 2 | 1 | 2014 | 2014 | ||||||||
|
filaggrin | 0.525 | 0.846 | 2.9E-04 |
|
phenotype | 0.100 | None | 1.000 | 1 | 2 | 2006 | 2006 | ||||||||
|
double PHD fingers 2 | 0.604 | 0.731 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2018 | 2018 | ||||||||
|
calcium/calmodulin dependent protein kinase II alpha | 0.612 | 0.538 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 1 | 9 | 2017 | 2017 | ||||||||
|
calcium/calmodulin dependent protein kinase II beta | 0.626 | 0.538 | 0.74 |
|
phenotype | 0.100 | None | 1.000 | 1 | 5 | 2017 | 2017 | ||||||||
|
bromodomain PHD finger transcription factor | 0.560 | 0.769 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 1 | 2 | 2017 | 2017 | ||||||||
|
RAD21 cohesin complex component | 0.528 | 0.846 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2019 | 2019 | ||||||||
|
iron-sulfur cluster assembly 1 | 0.792 | 0.231 | 0.17 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2017 | 2017 | ||||||||
|
S-phase cyclin A associated protein in the ER | 0.653 | 0.500 | 8.8E-03 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2019 | 2019 | ||||||||
|
syntaxin 7 | 0.821 | 0.231 | 5.0E-06 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2016 | 2016 | ||||||||
|
lysine acetyltransferase 6A | 0.560 | 0.769 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2015 | 2015 | ||||||||
|
G protein subunit beta 1 | 0.617 | 0.731 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 1 | 5 | 2016 | 2016 | ||||||||
|
AT-hook DNA binding motif containing 1 | 0.700 | 0.500 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 1 | 3 | 2014 | 2014 | ||||||||
|
PMS1 homolog 2, mismatch repair system component | 0.484 | 0.808 | 4.5E-27 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2007 | 2007 | ||||||||
|
zinc finger protein 142 | 0.861 | 0.192 | 4.8E-16 |
|
phenotype | 0.100 | None | 1.000 | 1 | 4 | 2019 | 2019 | ||||||||
|
SIN3 transcription regulator family member A | 0.551 | 0.692 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 1 | 2 | 2019 | 2019 | ||||||||
|
calcium voltage-gated channel subunit alpha1 A | 0.489 | 0.769 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 1 | 2 | 2015 | 2015 |