| 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. | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
GTP cyclohydrolase 1 | 0.511 | 0.846 | 0.90 |
|
phenotype | 0.700 | None | 0.982 | 2 | 2 | 1991 | 2019 | ||||||||
|
serine active site containing 1 | 0.686 | 0.385 | 3.9E-06 |
|
phenotype | 0.620 | None | 1.000 | 4 | 0 | 2006 | 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 | ||||||||
|
THAP domain containing 1 | 0.644 | 0.462 | 0.80 |
|
phenotype | 0.600 | None | 0.964 | 2 | 0 | 1999 | 2019 | ||||||||
|
tubulin beta 4A class IVa | 0.608 | 0.615 | 0.11 |
|
phenotype | 0.500 | None | 1.000 | 3 | 1 | 2011 | 2018 | ||||||||
|
torsin family 1 member A | 0.566 | 0.731 | 5.1E-04 |
|
phenotype | 0.500 | None | 0.973 | 3 | 1 | 1991 | 2019 | ||||||||
|
lysine methyltransferase 2B | 0.529 | 0.808 | 1.00 |
|
phenotype | 0.500 | None | 1.000 | 1 | 1 | 2016 | 2019 | ||||||||
|
tyrosine hydroxylase | 0.462 | 0.885 | 1.7E-06 |
|
phenotype | 0.500 | None | 1.000 | 1 | 6 | 1989 | 2019 | ||||||||
|
pantothenate kinase 2 | 0.559 | 0.808 | 7.4E-07 |
|
phenotype | 0.500 | strong | 1.000 | 1 | 1 | 2001 | 2019 | ||||||||
|
ATPase Na+/K+ transporting subunit alpha 3 | 0.544 | 0.615 | 1.00 |
|
phenotype | 0.500 | None | 1.000 | 1 | 2 | 1999 | 2016 | ||||||||
|
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 | ||||||||
|
adenylate cyclase 5 | 0.617 | 0.577 | 1.00 |
|
phenotype | 0.470 | None | 1.000 | 1 | 0 | 2014 | 2017 | ||||||||
|
aristaless related homeobox | 0.516 | 0.654 | 0.91 |
|
phenotype | 0.460 | None | 1.000 | 2 | 0 | 2002 | 2015 | ||||||||
|
solute carrier family 2 member 1 | 0.388 | 0.808 | 0.99 |
|
phenotype | 0.450 | None | 1.000 | 3 | 1 | 2000 | 2018 | ||||||||
|
solute carrier family 30 member 10 | 0.578 | 0.654 | 0.98 |
|
phenotype | 0.450 | None | 1.000 | 1 | 0 | 2012 | 2019 | ||||||||
|
adenosine deaminase RNA specific | 0.501 | 0.808 | 2.6E-02 |
|
phenotype | 0.440 | None | 1.000 | 3 | 0 | 2006 | 2016 | ||||||||
|
ATPase cation transporting 13A2 | 0.566 | 0.577 | 9.0E-09 |
|
phenotype | 0.440 | strong | 0.833 | 2 | 0 | 2010 | 2019 | ||||||||
|
glutaryl-CoA dehydrogenase | 0.691 | 0.385 | 4.9E-03 |
|
phenotype | 0.430 | None | 1.000 | 2 | 1 | 1995 | 2015 | ||||||||
|
fatty acid 2-hydroxylase | 0.573 | 0.654 | 0.15 |
|
phenotype | 0.430 | None | 1.000 | 1 | 1 | 2008 | 2019 | ||||||||
|
WD repeat domain 45 | 0.647 | 0.423 | 0.99 |
|
phenotype | 0.420 | strong | 1.000 | 2 | 0 | 2012 | 2015 | ||||||||
|
PTEN induced kinase 1 | 0.516 | 0.769 | 1.9E-10 |
|
phenotype | 0.420 | strong | 1.000 | 1 | 0 | 2004 | 2015 | ||||||||
|
ATM serine/threonine kinase | 0.374 | 0.885 | 5.6E-47 |
|
phenotype | 0.420 | None | 0.500 | 0 | 0 | 2012 | 2015 | ||||||||
|
succinate-CoA ligase ADP-forming subunit beta | 0.566 | 0.654 | 2.3E-03 |
|
phenotype | 0.420 | None | 1.000 | 0 | 0 | 2007 | 2009 | ||||||||
|
presenilin 1 | 0.469 | 0.846 | 0.97 |
|
phenotype | 0.410 | None | 1.000 | 2 | 1 | 2012 | 2017 |