| 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. | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
cyclin dependent kinase like 5 | 0.522 | 0.692 | 1.00 |
|
phenotype | 0.500 | None | 1.000 | 0 | 1 | 2005 | 2019 | ||||||||
|
glial fibrillary acidic protein | 0.421 | 0.885 | 1.5E-06 |
|
phenotype | 0.460 | strong | 1.000 | 0 | 1 | 2006 | 2019 | ||||||||
|
structural maintenance of chromosomes 1A | 0.509 | 0.808 | 1.00 |
|
phenotype | 0.420 | strong | 1.000 | 0 | 1 | 2015 | 2019 | ||||||||
|
cullin 4B | 0.556 | 0.769 | 1.00 |
|
phenotype | 0.410 | strong | 1.000 | 0 | 1 | 2012 | 2018 | ||||||||
|
Rho related BTB domain containing 2 | 0.631 | 0.615 | 1.3E-02 |
|
phenotype | 0.400 | strong | 1.000 | 0 | 1 | 2016 | 2016 | ||||||||
|
ATPase copper transporting alpha | 0.494 | 0.769 | 1.00 |
|
phenotype | 0.400 | None | 1.000 | 0 | 1 | 2012 | 2012 | ||||||||
|
zinc finger protein 292 | 0.695 | 0.423 | 1.00 |
|
phenotype | 0.400 | moderate | 1.000 | 0 | 1 | 2018 | 2018 | ||||||||
|
collagen type IV alpha 1 chain | 0.484 | 0.731 | 1.00 |
|
phenotype | 0.400 | strong | 1.000 | 0 | 1 | 2007 | 2007 | ||||||||
|
transient receptor potential cation channel subfamily M member 3 | 0.663 | 0.769 | 5.7E-07 |
|
phenotype | 0.400 | moderate | 1.000 | 0 | 1 | 2017 | 2019 | ||||||||
|
AF4/FMR2 family member 3 | 0.623 | 0.692 | 1.00 |
|
phenotype | 0.400 | None | 1.000 | 0 | 1 | 2008 | 2008 | ||||||||
|
galactosylceramidase | 0.604 | 0.615 | 5.2E-15 |
|
phenotype | 0.400 | strong | 1.000 | 0 | 2 | 2010 | 2010 | ||||||||
|
tripartite motif containing 8 | 0.588 | 0.731 | 0.99 |
|
phenotype | 0.400 | strong | 1.000 | 0 | 1 | 2013 | 2013 | ||||||||
|
mannose-P-dolichol utilization defect 1 | 0.682 | 0.500 | 1.0E-05 |
|
phenotype | 0.400 | strong | 1.000 | 0 | 2 | 2001 | 2001 | ||||||||
|
potassium two pore domain channel subfamily K member 4 | 0.743 | 0.385 | 5.7E-03 |
|
phenotype | 0.400 | None | 1.000 | 0 | 2 | 2018 | 2018 | ||||||||
|
TBC1 domain containing kinase | 0.650 | 0.654 | 2.1E-15 |
|
phenotype | 0.400 | strong | 1.000 | 0 | 1 | 2016 | 2016 | ||||||||
|
HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 | 0.601 | 0.692 | 6.1E-06 |
|
phenotype | 0.400 | None | 1.000 | 0 | 1 | 2015 | 2015 | ||||||||
|
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 2 | 0.518 | 0.731 | 1.00 |
|
phenotype | 0.200 | None | 0.944 | 0 | 4 | 2004 | 2019 | ||||||||
|
sodium voltage-gated channel alpha subunit 1 | 0.477 | 0.808 | 1.00 |
|
phenotype | 0.200 | None | 0.932 | 0 | 15 | 2002 | 2020 | ||||||||
|
mechanistic target of rapamycin kinase | 0.343 | 0.885 | 1.00 |
|
phenotype | 0.200 | None | 0.957 | 0 | 3 | 2012 | 2020 | ||||||||
|
sodium voltage-gated channel alpha subunit 8 | 0.510 | 0.731 | 1.00 |
|
phenotype | 0.200 | None | 1.000 | 0 | 2 | 2007 | 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 | ||||||||
|
SH3 and multiple ankyrin repeat domains 3 | 0.550 | 0.731 | 1.00 |
|
phenotype | 0.150 | None | 1.000 | 0 | 1 | 2013 | 2019 |