| 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. | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
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 | ||||||||
|
zinc finger protein 292 | 0.695 | 0.423 | 1.00 |
|
phenotype | 0.400 | moderate | 1.000 | 0 | 1 | 2018 | 2018 | ||||||||
|
solute carrier family 2 member 1 | 0.388 | 0.808 | 0.99 |
|
phenotype | 0.700 | strong | 1.000 | 3 | 4 | 1998 | 2018 | ||||||||
|
actin like 6B | 0.656 | 0.462 | 2.8E-04 |
|
phenotype | 0.400 | strong | 1.000 | 1 | 1 | 2019 | 2019 | ||||||||
|
G protein subunit beta 1 | 0.617 | 0.731 | 1.00 |
|
phenotype | 0.410 | strong | 1.000 | 1 | 8 | 2015 | 2016 | ||||||||
|
three prime repair exonuclease 1 | 0.517 | 0.808 | 0.58 |
|
phenotype | 0.400 | strong | 1.000 | 1 | 2 | 2008 | 2016 | ||||||||
|
F-box and leucine rich repeat protein 4 | 0.695 | 0.423 | 1.1E-08 |
|
phenotype | 0.400 | strong | 1.000 | 1 | 1 | 2016 | 2017 | ||||||||
|
neurobeachin | 0.760 | 0.538 | 1.00 |
|
phenotype | 0.400 | strong | 1.000 | 1 | 2 | 2013 | 2018 | ||||||||
|
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 | ||||||||
|
tripartite motif containing 8 | 0.588 | 0.731 | 0.99 |
|
phenotype | 0.400 | strong | 1.000 | 0 | 1 | 2013 | 2013 | ||||||||
|
structural maintenance of chromosomes 1A | 0.509 | 0.808 | 1.00 |
|
phenotype | 0.420 | strong | 1.000 | 0 | 1 | 2015 | 2019 | ||||||||
|
galactosylceramidase | 0.604 | 0.615 | 5.2E-15 |
|
phenotype | 0.400 | strong | 1.000 | 0 | 2 | 2010 | 2010 | ||||||||
|
collagen type IV alpha 1 chain | 0.484 | 0.731 | 1.00 |
|
phenotype | 0.400 | strong | 1.000 | 0 | 1 | 2007 | 2007 | ||||||||
|
glial fibrillary acidic protein | 0.421 | 0.885 | 1.5E-06 |
|
phenotype | 0.460 | strong | 1.000 | 0 | 1 | 2006 | 2019 | ||||||||
|
mannose-P-dolichol utilization defect 1 | 0.682 | 0.500 | 1.0E-05 |
|
phenotype | 0.400 | strong | 1.000 | 0 | 2 | 2001 | 2001 | ||||||||
|
TBC1 domain containing kinase | 0.650 | 0.654 | 2.1E-15 |
|
phenotype | 0.400 | strong | 1.000 | 0 | 1 | 2016 | 2016 | ||||||||
|
DNA polymerase gamma, catalytic subunit | 0.457 | 0.846 | 2.1E-09 |
|
phenotype | 0.430 | None | 1.000 | 76 | 11 | 2001 | 2019 | ||||||||
|
potassium voltage-gated channel subfamily Q member 2 | 0.537 | 0.654 | 1.00 |
|
phenotype | 0.500 | None | 1.000 | 23 | 16 | 1984 | 2019 | ||||||||
|
sodium voltage-gated channel beta subunit 1 | 0.575 | 0.538 | 0.10 |
|
phenotype | 0.130 | None | 0.950 | 17 | 1 | 1998 | 2016 | ||||||||
|
cholinergic receptor nicotinic alpha 4 subunit | 0.492 | 0.808 | 8.5E-05 |
|
phenotype | 0.440 | None | 1.000 | 9 | 1 | 1999 | 2019 | ||||||||
|
aldehyde dehydrogenase 7 family member A1 | 0.551 | 0.769 | 1.4E-22 |
|
phenotype | 0.140 | None | 1.000 | 8 | 6 | 2006 | 2018 | ||||||||
|
methyl-CpG binding protein 2 | 0.414 | 0.846 | 0.89 |
|
phenotype | 0.500 | None | 0.923 | 6 | 6 | 2000 | 2019 | ||||||||
|
hexosaminidase subunit alpha | 0.633 | 0.615 | 1.3E-11 |
|
phenotype | 0.100 | None | 1.000 | 5 | 11 | 1992 | 2014 | ||||||||
|
chromodomain helicase DNA binding protein 8 | 0.656 | 0.577 | 1.00 |
|
phenotype | 0.110 | None | 1.000 | 4 | 1 | 2012 | 2020 |