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. | ||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
adenosine deaminase RNA specific | 0.501 | 0.808 | 2.6E-02 |
|
phenotype | 0.440 | None | 1.000 | 3 | 0 | 2006 | 2016 | ||||||||
|
tubulin beta 4A class IVa | 0.608 | 0.615 | 0.11 |
|
phenotype | 0.500 | None | 1.000 | 3 | 0 | 2011 | 2018 | ||||||||
|
protein activator of interferon induced protein kinase EIF2AK2 | 0.579 | 0.615 | 0.42 |
|
phenotype | 0.600 | None | 1.000 | 3 | 0 | 2008 | 2018 | ||||||||
|
serine active site containing 1 | 0.686 | 0.385 | 3.9E-06 |
|
phenotype | 0.620 | None | 1.000 | 3 | 0 | 2006 | 2018 | ||||||||
|
solute carrier family 2 member 1 | 0.388 | 0.808 | 0.99 |
|
phenotype | 0.450 | None | 1.000 | 3 | 0 | 2000 | 2018 | ||||||||
|
ATPase cation transporting 13A2 | 0.566 | 0.577 | 9.0E-09 |
|
phenotype | 0.440 | strong | 0.833 | 2 | 0 | 2010 | 2019 | ||||||||
|
adaptor related protein complex 1 subunit sigma 2 | 0.631 | 0.615 | 0.87 |
|
phenotype | 0.300 | None | 1.000 | 2 | 0 | 2008 | 2014 | ||||||||
|
glutaryl-CoA dehydrogenase | 0.691 | 0.385 | 4.9E-03 |
|
phenotype | 0.430 | None | 1.000 | 2 | 0 | 1995 | 2015 | ||||||||
|
quinoid dihydropteridine reductase | 0.691 | 0.500 | 1.5E-04 |
|
phenotype | 0.400 | None | 1.000 | 2 | 0 | 1998 | 2000 | ||||||||
|
presenilin 1 | 0.469 | 0.846 | 0.97 |
|
phenotype | 0.410 | None | 1.000 | 2 | 0 | 2012 | 2017 | ||||||||
|
6-pyruvoyltetrahydropterin synthase | 0.636 | 0.654 | 6.5E-06 |
|
phenotype | 0.400 | None | 1.000 | 2 | 0 | 2016 | 2016 | ||||||||
|
triggering receptor expressed on myeloid cells 2 | 0.519 | 0.769 | 3.3E-09 |
|
phenotype | 0.300 | None | 1.000 | 2 | 0 | 2005 | 2016 | ||||||||
|
ATPase Na+/K+ transporting subunit alpha 2 | 0.597 | 0.615 | 1.8E-04 |
|
phenotype | 0.400 | None | 1.000 | 2 | 0 | 2003 | 2003 | ||||||||
|
aristaless related homeobox | 0.516 | 0.654 | 0.91 |
|
phenotype | 0.460 | None | 1.000 | 2 | 0 | 2002 | 2015 | ||||||||
|
dopa decarboxylase | 0.535 | 0.769 | 3.8E-08 |
|
phenotype | 0.300 | None | 1.000 | 2 | 0 | 2009 | 2014 | ||||||||
|
WD repeat domain 45 | 0.647 | 0.423 | 0.99 |
|
phenotype | 0.420 | strong | 1.000 | 2 | 0 | 2012 | 2015 | ||||||||
|
platelet derived growth factor receptor beta | 0.416 | 0.846 | 0.90 |
|
phenotype | 0.400 | None | 1.000 | 2 | 0 | 2014 | 2015 | ||||||||
|
parkin RBR E3 ubiquitin protein ligase | 0.431 | 0.846 | 6.9E-07 |
|
phenotype | 0.490 | strong | 1.000 | 2 | 0 | 1998 | 2020 | ||||||||
|
calcium voltage-gated channel subunit alpha1 A | 0.489 | 0.769 | 1.00 |
|
phenotype | 0.480 | None | 1.000 | 1 | 0 | 1999 | 2020 | ||||||||
|
myogenesis regulating glycosidase (putative) | 0.805 | 0.269 | 1.1E-11 |
|
phenotype | 0.400 | strong | 1.000 | 1 | 0 | 2019 | 2019 | ||||||||
|
mucolipin 1 | 0.601 | 0.654 | 5.8E-04 |
|
phenotype | 0.400 | limited | 1.000 | 1 | 0 | 2018 | 2018 | ||||||||
|
THAP domain containing 1 | 0.644 | 0.462 | 0.80 |
|
phenotype | 0.600 | None | 0.964 | 1 | 0 | 1999 | 2019 | ||||||||
|
AU RNA binding methylglutaconyl-CoA hydratase | 0.686 | 0.346 | 8.0E-06 |
|
phenotype | 0.400 | None | 1.000 | 1 | 0 | 2010 | 2010 | ||||||||
|
aprataxin | 0.590 | 0.500 | 4.0E-10 |
|
phenotype | 0.410 | None | 1.000 | 1 | 0 | 2003 | 2003 | ||||||||
|
ribonuclease H2 subunit C | 0.590 | 0.731 | 5.5E-03 |
|
phenotype | 0.400 | limited | 1.000 | 1 | 0 | 2006 | 2006 |