| 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. | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
beta-1,3-N-acetylgalactosaminyltransferase 2 | 0.578 | 0.577 | 2.8E-07 |
|
phenotype | 0.100 | None | 1.000 | 2 | 1 | 2013 | 2014 | ||||||||
|
zinc finger C4H2-type containing | 0.561 | 0.731 | 0.91 |
|
phenotype | 0.100 | None | 1.000 | 2 | 1 | 2013 | 2015 | ||||||||
|
EMC1 antisense RNA 1 | 0.792 | 0.385 |
|
phenotype | 0.100 | None | 1.000 | 2 | 1 | 2013 | 2016 | |||||||||
|
TBL1X receptor 1 | 0.534 | 0.808 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 10 | 1 | 2012 | 2017 | ||||||||
|
thyroid hormone receptor alpha | 0.566 | 0.769 | 0.33 |
|
phenotype | 0.100 | None | 1.000 | 9 | 1 | 2012 | 2016 | ||||||||
|
collagen type IV alpha 2 chain | 0.563 | 0.654 | 3.6E-15 |
|
phenotype | 0.100 | None | 1.000 | 7 | 1 | 2012 | 2016 | ||||||||
|
glutamyl-tRNA synthetase 2, mitochondrial | 0.666 | 0.538 | 1.1E-08 |
|
phenotype | 0.100 | None | 1.000 | 7 | 1 | 2012 | 2016 | ||||||||
|
SRY-box transcription factor 5 | 0.545 | 0.769 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 6 | 1 | 2012 | 2017 | ||||||||
|
acylglycerol kinase | 0.650 | 0.654 | 6.0E-09 |
|
phenotype | 0.100 | None | 1.000 | 6 | 2 | 2012 | 2017 | ||||||||
|
ATPase phospholipid transporting 8A2 | 0.659 | 0.577 | 1.2E-12 |
|
phenotype | 0.100 | None | 1.000 | 5 | 1 | 2012 | 2017 | ||||||||
|
solute carrier family 52 member 3 | 0.610 | 0.654 | 1.9E-02 |
|
phenotype | 0.100 | None | 1.000 | 5 | 2 | 2012 | 2016 | ||||||||
|
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 | 0.434 | 0.846 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 5 | 2 | 2012 | 2014 | ||||||||
|
histidyl-tRNA synthetase 1 | 0.569 | 0.808 | 2.4E-06 |
|
phenotype | 0.100 | None | 1.000 | 4 | 1 | 2012 | 2016 | ||||||||
|
prune exopolyphosphatase 1 | 0.678 | 0.308 | 9.1E-03 |
|
phenotype | 0.100 | None | 1.000 | 4 | 2 | 2012 | 2017 | ||||||||
|
tubulin beta class I | 0.603 | 0.692 | 0.98 |
|
phenotype | 0.100 | None | 1.000 | 3 | 1 | 2012 | 2015 | ||||||||
|
solute carrier family 52 member 2 | 0.483 | 0.808 | 2.5E-03 |
|
phenotype | 0.100 | None | 1.000 | 3 | 2 | 2012 | 2016 | ||||||||
|
KAT8 regulatory NSL complex subunit 1 | 0.592 | 0.731 | 1.00 |
|
phenotype | 0.400 | None | 1.000 | 0 | 1 | 2012 | 2012 | ||||||||
|
kinesin family member 1A | 0.559 | 0.692 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 15 | 1 | 2011 | 2018 | ||||||||
|
ASXL transcriptional regulator 3 | 0.590 | 0.577 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 9 | 3 | 2011 | 2017 | ||||||||
|
ciliogenesis and planar polarity effector 1 | 0.575 | 0.692 | 5.9E-36 |
|
phenotype | 0.100 | None | 1.000 | 6 | 1 | 2011 | 2015 | ||||||||
|
WW domain containing adaptor with coiled-coil | 0.686 | 0.615 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 6 | 1 | 2011 | 2016 | ||||||||
|
chromosome alignment maintaining phosphoprotein 1 | 0.691 | 0.500 | 0.99 |
|
phenotype | 0.100 | None | 1.000 | 5 | 2 | 2011 | 2016 | ||||||||
|
laminin subunit gamma 3 | 0.722 | 0.308 | 1.4E-23 |
|
phenotype | 0.100 | None | 1.000 | 2 | 1 | 2011 | 2015 | ||||||||
|
transient receptor potential cation channel subfamily V member 4 | 0.457 | 0.808 | 2.2E-16 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2011 | 2011 | ||||||||
|
DEAF1 transcription factor | 0.575 | 0.615 | 3.4E-04 |
|
phenotype | 0.100 | None | 1.000 | 10 | 2 | 2010 | 2017 |