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. | ||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
polynucleotide kinase 3'-phosphatase | 0.553 | 0.692 | 3.7E-14 |
|
phenotype | 0.410 | None | 1.000 | 0 | 0 | 2010 | 2010 | ||||||||
|
4-aminobutyrate aminotransferase | 0.628 | 0.538 | 6.3E-03 |
|
phenotype | 0.410 | None | 1.000 | 0 | 0 | 1999 | 2018 | ||||||||
|
G protein subunit beta 1 | 0.617 | 0.731 | 1.00 |
|
phenotype | 0.410 | strong | 1.000 | 0 | 0 | 2015 | 2016 | ||||||||
|
delta like canonical Notch ligand 1 | 0.492 | 0.808 | 1.00 |
|
phenotype | 0.410 | None | 1.000 | 0 | 0 | 2018 | 2019 | ||||||||
|
notch receptor 3 | 0.435 | 0.808 | 0.41 |
|
phenotype | 0.410 | strong | 1.000 | 0 | 0 | 2009 | 2018 | ||||||||
|
cyclin and CBS domain divalent metal cation transport mediator 2 | 0.641 | 0.346 | 1.00 |
|
phenotype | 0.410 | None | 1.000 | 0 | 0 | 2012 | 2014 | ||||||||
|
protein kinase C delta | 0.480 | 0.846 | 1.00 |
|
phenotype | 0.410 | None | 1.000 | 0 | 0 | 2016 | 2017 | ||||||||
|
transcription factor 4 | 0.464 | 0.846 | 1.00 |
|
phenotype | 0.410 | None | 1.000 | 0 | 0 | 2008 | 2009 | ||||||||
|
cullin 4B | 0.556 | 0.769 | 1.00 |
|
phenotype | 0.410 | strong | 1.000 | 0 | 0 | 2012 | 2018 | ||||||||
|
multiple PDZ domain crumbs cell polarity complex component | 0.638 | 0.500 | 5.8E-38 |
|
phenotype | 0.410 | None | 1.000 | 0 | 0 | 2004 | 2009 | ||||||||
|
phosphatidylinositol glycan anchor biosynthesis class M | 0.695 | 0.346 | 5.4E-05 |
|
phenotype | 0.410 | None | 1.000 | 0 | 0 | 2006 | 2007 | ||||||||
|
PET100 cytochrome c oxidase chaperone | 0.650 | 0.577 | 3.6E-04 |
|
phenotype | 0.400 | strong | 1.000 | 0 | 0 | 2013 | 2013 | ||||||||
|
Ts translation elongation factor, mitochondrial | 0.736 | 0.423 | 1.9E-09 |
|
phenotype | 0.400 | moderate | 1.000 | 0 | 0 | 2011 | 2011 | ||||||||
|
APC regulator of WNT signaling pathway 2 | 0.582 | 0.654 | 1.00 |
|
phenotype | 0.400 | strong | 1.000 | 0 | 0 | 2012 | 2012 | ||||||||
|
solute carrier family 35 member A1 | 0.601 | 0.654 | 0.68 |
|
phenotype | 0.400 | moderate | 1.000 | 0 | 0 | 2017 | 2017 | ||||||||
|
three prime repair exonuclease 1 | 0.517 | 0.808 | 0.58 |
|
phenotype | 0.400 | strong | 1.000 | 0 | 0 | 2008 | 2016 | ||||||||
|
collagen type IV alpha 1 chain | 0.484 | 0.731 | 1.00 |
|
phenotype | 0.400 | strong | 1.000 | 0 | 0 | 2007 | 2007 | ||||||||
|
TBC1 domain family member 20 | 0.621 | 0.500 | 0.93 |
|
phenotype | 0.400 | moderate | 1.000 | 0 | 0 | 2013 | 2013 | ||||||||
|
cytochrome P450 family 27 subfamily A member 1 | 0.538 | 0.731 | 5.3E-19 |
|
phenotype | 0.400 | moderate | 1.000 | 0 | 0 | 1991 | 1991 | ||||||||
|
dihydrolipoamide branched chain transacylase E2 | 0.638 | 0.462 | 1.0E-05 |
|
phenotype | 0.400 | strong | 1.000 | 0 | 0 | 2019 | 2019 | ||||||||
|
deoxyhypusine synthase | 0.670 | 0.538 | 1.6E-04 |
|
phenotype | 0.400 | strong | 1.000 | 0 | 0 | 2012 | 2012 | ||||||||
|
atrophin 1 | 0.409 | 0.885 | 1.00 |
|
phenotype | 0.400 | strong | 1.000 | 0 | 0 | 2019 | 2019 | ||||||||
|
fucose kinase | 0.769 | 0.192 | 1.0E-29 |
|
phenotype | 0.400 | moderate | 1.000 | 0 | 0 | 2018 | 2018 | ||||||||
|
aminolevulinate dehydratase | 0.556 | 0.615 | 5.6E-05 |
|
phenotype | 0.400 | None | 1.000 | 0 | 0 | 2010 | 2010 | ||||||||
|
phosphatase and actin regulator 1 | 0.663 | 0.423 | 0.64 |
|
phenotype | 0.400 | strong | 1.000 | 0 | 0 | 2017 | 2017 |