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 | ||||||||
|
adenylate cyclase 5 | 0.617 | 0.577 | 1.00 |
|
phenotype | 0.470 | None | 1.000 | 1 | 0 | 2014 | 2017 | ||||||||
|
AFG3 like matrix AAA peptidase subunit 2 | 0.588 | 0.462 | 5.3E-09 |
|
phenotype | 0.400 | strong | 0 | 0 | |||||||||||
|
adaptor related protein complex 1 subunit sigma 2 | 0.631 | 0.615 | 0.87 |
|
phenotype | 0.300 | None | 1.000 | 2 | 0 | 2008 | 2014 | ||||||||
|
aprataxin | 0.590 | 0.500 | 4.0E-10 |
|
phenotype | 0.410 | None | 1.000 | 1 | 0 | 2003 | 2003 | ||||||||
|
arylsulfatase A | 0.448 | 0.923 | 1.1E-11 |
|
phenotype | 0.400 | None | 0 | 0 | |||||||||||
|
aristaless related homeobox | 0.516 | 0.654 | 0.91 |
|
phenotype | 0.460 | None | 1.000 | 2 | 0 | 2002 | 2015 | ||||||||
|
ATM serine/threonine kinase | 0.374 | 0.885 | 5.6E-47 |
|
phenotype | 0.420 | None | 0.500 | 0 | 0 | 2012 | 2015 | ||||||||
|
ATPase cation transporting 13A2 | 0.566 | 0.577 | 9.0E-09 |
|
phenotype | 0.440 | strong | 0.833 | 2 | 0 | 2010 | 2019 | ||||||||
|
ATPase Na+/K+ transporting subunit alpha 2 | 0.597 | 0.615 | 1.8E-04 |
|
phenotype | 0.400 | None | 1.000 | 2 | 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 | ||||||||
|
chromosome 19 open reading frame 12 | 0.641 | 0.615 | 0.34 |
|
phenotype | 0.410 | strong | 1.000 | 1 | 0 | 2013 | 2017 | ||||||||
|
calcium voltage-gated channel subunit alpha1 A | 0.489 | 0.769 | 1.00 |
|
phenotype | 0.480 | None | 1.000 | 1 | 0 | 1999 | 2020 | ||||||||
|
calcium voltage-gated channel subunit alpha1 E | 0.650 | 0.577 | 1.00 |
|
phenotype | 0.400 | strong | 1.000 | 1 | 0 | 2018 | 2018 | ||||||||
|
charged multivesicular body protein 2B | 0.543 | 0.731 | 4.6E-06 |
|
phenotype | 0.400 | None | 1.000 | 1 | 0 | 2008 | 2008 | ||||||||
|
ceruloplasmin | 0.466 | 0.846 | 4.2E-10 |
|
phenotype | 0.310 | None | 1.000 | 1 | 0 | 1987 | 2006 | ||||||||
|
cytochrome P450 family 27 subfamily A member 1 | 0.538 | 0.731 | 5.3E-19 |
|
phenotype | 0.400 | strong | 1.000 | 1 | 0 | 2018 | 2018 | ||||||||
|
DDB1 and CUL4 associated factor 17 | 0.653 | 0.577 | 3.7E-07 |
|
phenotype | 0.410 | None | 0.500 | 0 | 0 | 2010 | 2016 | ||||||||
|
dopa decarboxylase | 0.535 | 0.769 | 3.8E-08 |
|
phenotype | 0.300 | None | 1.000 | 2 | 0 | 2009 | 2014 | ||||||||
|
dihydrolipoamide S-acetyltransferase | 0.576 | 0.731 | 2.3E-08 |
|
phenotype | 0.300 | None | 1.000 | 1 | 0 | 2009 | 2009 | ||||||||
|
glutamyl-tRNA synthetase 2, mitochondrial | 0.666 | 0.538 | 1.1E-08 |
|
phenotype | 0.400 | limited | 0 | 0 | |||||||||||
|
ERCC excision repair 6, chromatin remodeling factor | 0.507 | 0.808 | 5.2E-22 |
|
phenotype | 0.300 | limited | 1.000 | 1 | 0 | 2008 | 2008 | ||||||||
|
fatty acid 2-hydroxylase | 0.573 | 0.654 | 0.15 |
|
phenotype | 0.430 | None | 1.000 | 1 | 0 | 2008 | 2019 | ||||||||
|
FAST kinase domains 2 | 0.659 | 0.731 | 2.9E-06 |
|
phenotype | 0.300 | limited | 0 | 0 | |||||||||||
|
F-box protein 7 | 0.650 | 0.769 | 5.8E-07 |
|
phenotype | 0.410 | strong | 1.000 | 1 | 0 | 2009 | 2010 |