| 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 | ||||||||
|
solute carrier family 2 member 1 | 0.388 | 0.808 | 0.99 |
|
phenotype | 0.450 | None | 1.000 | 3 | 0 | 2000 | 2018 | ||||||||
|
serine active site containing 1 | 0.686 | 0.385 | 3.9E-06 |
|
phenotype | 0.620 | None | 1.000 | 3 | 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 | ||||||||
|
tubulin beta 4A class IVa | 0.608 | 0.615 | 0.11 |
|
phenotype | 0.500 | None | 1.000 | 3 | 0 | 2011 | 2018 | ||||||||
|
6-pyruvoyltetrahydropterin synthase | 0.636 | 0.654 | 6.5E-06 |
|
phenotype | 0.400 | None | 1.000 | 2 | 0 | 2016 | 2016 | ||||||||
|
quinoid dihydropteridine reductase | 0.691 | 0.500 | 1.5E-04 |
|
phenotype | 0.400 | None | 1.000 | 2 | 0 | 1998 | 2000 | ||||||||
|
triggering receptor expressed on myeloid cells 2 | 0.519 | 0.769 | 3.3E-09 |
|
phenotype | 0.300 | None | 1.000 | 2 | 0 | 2005 | 2016 | ||||||||
|
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 | ||||||||
|
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 | ||||||||
|
presenilin 1 | 0.469 | 0.846 | 0.97 |
|
phenotype | 0.410 | None | 1.000 | 2 | 0 | 2012 | 2017 | ||||||||
|
platelet derived growth factor receptor beta | 0.416 | 0.846 | 0.90 |
|
phenotype | 0.400 | None | 1.000 | 2 | 0 | 2014 | 2015 | ||||||||
|
ATPase Na+/K+ transporting subunit alpha 2 | 0.597 | 0.615 | 1.8E-04 |
|
phenotype | 0.400 | None | 1.000 | 2 | 0 | 2003 | 2003 | ||||||||
|
charged multivesicular body protein 2B | 0.543 | 0.731 | 4.6E-06 |
|
phenotype | 0.400 | None | 1.000 | 1 | 0 | 2008 | 2008 | ||||||||
|
GTP cyclohydrolase 1 | 0.511 | 0.846 | 0.90 |
|
phenotype | 0.700 | None | 0.982 | 1 | 0 | 1991 | 2019 | ||||||||
|
proteolipid protein 1 | 0.543 | 0.769 | 0.93 |
|
phenotype | 0.400 | None | 1.000 | 1 | 0 | 2000 | 2000 | ||||||||
|
aprataxin | 0.590 | 0.500 | 4.0E-10 |
|
phenotype | 0.410 | None | 1.000 | 1 | 0 | 2003 | 2003 | ||||||||
|
AU RNA binding methylglutaconyl-CoA hydratase | 0.686 | 0.346 | 8.0E-06 |
|
phenotype | 0.400 | None | 1.000 | 1 | 0 | 2010 | 2010 | ||||||||
|
THAP domain containing 1 | 0.644 | 0.462 | 0.80 |
|
phenotype | 0.600 | None | 0.964 | 1 | 0 | 1999 | 2019 | ||||||||
|
adenylate cyclase 5 | 0.617 | 0.577 | 1.00 |
|
phenotype | 0.470 | None | 1.000 | 1 | 0 | 2014 | 2017 | ||||||||
|
fatty acid 2-hydroxylase | 0.573 | 0.654 | 0.15 |
|
phenotype | 0.430 | None | 1.000 | 1 | 0 | 2008 | 2019 | ||||||||
|
forkhead box G1 | 0.522 | 0.692 | 0.94 |
|
phenotype | 0.400 | None | 1.000 | 1 | 0 | 2017 | 2017 | ||||||||
|
ceruloplasmin | 0.466 | 0.846 | 4.2E-10 |
|
phenotype | 0.310 | None | 1.000 | 1 | 0 | 1987 | 2006 |