| 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. | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
galactosylceramidase | 0.604 | 0.615 | 5.2E-15 |
|
phenotype | 0.400 | strong | 1.000 | 0 | 2 | 2010 | 2010 | ||||||||
|
mechanistic target of rapamycin kinase | 0.343 | 0.885 | 1.00 |
|
phenotype | 0.200 | None | 0.957 | 0 | 3 | 2012 | 2020 | ||||||||
|
calcium voltage-gated channel subunit alpha1 A | 0.489 | 0.769 | 1.00 |
|
phenotype | 0.200 | None | 0.900 | 0 | 2 | 1997 | 2019 | ||||||||
|
sodium voltage-gated channel alpha subunit 1 | 0.477 | 0.808 | 1.00 |
|
phenotype | 0.200 | None | 0.932 | 0 | 15 | 2002 | 2020 | ||||||||
|
sodium voltage-gated channel alpha subunit 8 | 0.510 | 0.731 | 1.00 |
|
phenotype | 0.200 | None | 1.000 | 0 | 2 | 2007 | 2019 | ||||||||
|
sodium voltage-gated channel alpha subunit 2 | 0.518 | 0.731 | 1.00 |
|
phenotype | 0.200 | None | 0.944 | 0 | 4 | 2004 | 2019 | ||||||||
|
TBC1 domain family member 24 | 0.530 | 0.808 | 1.3E-08 |
|
phenotype | 0.180 | None | 1.000 | 2 | 8 | 2014 | 2019 | ||||||||
|
adenosine kinase | 0.584 | 0.769 | 3.1E-04 |
|
phenotype | 0.180 | None | 1.000 | 0 | 1 | 2007 | 2019 | ||||||||
|
SZT2 subunit of KICSTOR complex | 0.670 | 0.423 | 2.3E-14 |
|
phenotype | 0.170 | None | 1.000 | 0 | 2 | 2013 | 2019 | ||||||||
|
ubiquitin protein ligase E3A | 0.561 | 0.692 | 1.00 |
|
phenotype | 0.160 | None | 1.000 | 0 | 2 | 1999 | 2019 | ||||||||
|
DEP domain containing 5, GATOR1 subcomplex subunit | 0.631 | 0.538 | 0.12 |
|
phenotype | 0.150 | None | 1.000 | 4 | 4 | 2013 | 2020 | ||||||||
|
glutamate ionotropic receptor NMDA type subunit 2B | 0.510 | 0.692 | 1.00 |
|
phenotype | 0.150 | None | 1.000 | 0 | 2 | 2014 | 2017 | ||||||||
|
aristaless related homeobox | 0.516 | 0.654 | 0.91 |
|
phenotype | 0.150 | None | 0.800 | 0 | 1 | 2007 | 2017 | ||||||||
|
SH3 and multiple ankyrin repeat domains 3 | 0.550 | 0.731 | 1.00 |
|
phenotype | 0.150 | None | 1.000 | 0 | 1 | 2013 | 2019 | ||||||||
|
aldehyde dehydrogenase 7 family member A1 | 0.551 | 0.769 | 1.4E-22 |
|
phenotype | 0.140 | None | 1.000 | 8 | 6 | 2006 | 2018 | ||||||||
|
potassium sodium-activated channel subfamily T member 1 | 0.610 | 0.308 | 2.8E-05 |
|
phenotype | 0.140 | None | 1.000 | 3 | 1 | 2015 | 2019 | ||||||||
|
B-Raf proto-oncogene, serine/threonine kinase | 0.319 | 0.846 | 1.00 |
|
phenotype | 0.140 | None | 0.857 | 3 | 1 | 2006 | 2019 | ||||||||
|
WD repeat domain 45 | 0.647 | 0.423 | 0.99 |
|
phenotype | 0.140 | None | 1.000 | 3 | 2 | 2012 | 2018 | ||||||||
|
pyridoxamine 5'-phosphate oxidase | 0.659 | 0.500 | 1.1E-08 |
|
phenotype | 0.140 | None | 1.000 | 0 | 1 | 2006 | 2019 | ||||||||
|
phosphatase and tensin homolog | 0.305 | 0.923 | 0.26 |
|
phenotype | 0.140 | None | 0.750 | 0 | 2 | 2011 | 2018 | ||||||||
|
heterogeneous nuclear ribonucleoprotein U | 0.575 | 0.654 | 1.00 |
|
phenotype | 0.140 | None | 1.000 | 0 | 1 | 2010 | 2017 | ||||||||
|
syntaxin binding protein 1 | 0.532 | 0.692 | 1.00 |
|
phenotype | 0.140 | None | 0.750 | 0 | 2 | 2011 | 2018 | ||||||||
|
synaptic Ras GTPase activating protein 1 | 0.584 | 0.577 | 1.00 |
|
phenotype | 0.140 | None | 1.000 | 0 | 1 | 2017 | 2019 | ||||||||
|
syntaxin 1B | 0.650 | 0.308 | 0.99 |
|
phenotype | 0.140 | None | 1.000 | 0 | 2 | 2014 | 2018 | ||||||||
|
sodium voltage-gated channel beta subunit 1 | 0.575 | 0.538 | 0.10 |
|
phenotype | 0.130 | None | 0.950 | 17 | 1 | 1998 | 2016 |