| 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. | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
calcium voltage-gated channel auxiliary subunit alpha2delta 2 | 0.626 | 0.615 | 1.00 |
|
phenotype | 0.510 | strong | 1.000 | 1 | 0 | 2004 | 2019 | ||||||||
|
pumilio RNA binding family member 1 | 0.653 | 0.654 | 1.00 |
|
phenotype | 0.310 | None | 1.000 | 1 | 0 | 2018 | 2020 | ||||||||
|
presenilin 1 | 0.469 | 0.846 | 0.97 |
|
phenotype | 0.120 | None | 1.000 | 1 | 0 | 2007 | 2014 | ||||||||
|
ATPase cation transporting 13A2 | 0.566 | 0.577 | 9.0E-09 |
|
phenotype | 0.110 | None | 1.000 | 1 | 0 | 2019 | 2019 | ||||||||
|
transient receptor potential cation channel subfamily C member 3 | 0.570 | 0.731 | 1.1E-07 |
|
phenotype | 0.110 | None | 1.000 | 1 | 0 | 2014 | 2014 | ||||||||
|
ubiquitin protein ligase E3A | 0.561 | 0.692 | 1.00 |
|
phenotype | 0.110 | None | < 0.001 | 1 | 0 | 2008 | 2008 | ||||||||
|
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | 0.292 | 0.923 | 1.00 |
|
phenotype | 0.110 | None | 1.000 | 1 | 0 | 1997 | 1997 | ||||||||
|
ATPase phospholipid transporting 8A2 | 0.659 | 0.577 | 1.2E-12 |
|
phenotype | 0.110 | None | 1.000 | 1 | 0 | 2020 | 2020 | ||||||||
|
ankyrin 1 | 0.540 | 0.885 | 1.00 |
|
phenotype | 0.110 | None | 1.000 | 1 | 0 | 2014 | 2014 | ||||||||
|
WW domain containing oxidoreductase | 0.453 | 0.808 | 1.2E-15 |
|
phenotype | 0.110 | None | 1.000 | 1 | 0 | 2015 | 2015 | ||||||||
|
solute carrier family 52 member 2 | 0.483 | 0.808 | 2.5E-03 |
|
phenotype | 0.110 | None | 1.000 | 1 | 0 | 2018 | 2018 | ||||||||
|
tyrosyl-DNA phosphodiesterase 2 | 0.628 | 0.462 | 1.1E-08 |
|
phenotype | 0.110 | None | 1.000 | 1 | 0 | 2019 | 2019 | ||||||||
|
outer mitochondrial membrane lipid metabolism regulator OPA3 | 0.653 | 0.385 | 0.57 |
|
phenotype | 0.110 | None | 1.000 | 1 | 0 | 2015 | 2015 | ||||||||
|
CLN5 intracellular trafficking protein | 0.705 | 0.269 | 1.7E-08 |
|
phenotype | 0.110 | None | 1.000 | 1 | 0 | 2015 | 2015 | ||||||||
|
tripeptidyl peptidase 1 | 0.551 | 0.808 | 6.3E-07 |
|
phenotype | 0.110 | None | 1.000 | 1 | 0 | 2013 | 2013 | ||||||||
|
gelsolin | 0.475 | 0.885 | 3.9E-11 |
|
phenotype | 0.110 | None | 1.000 | 1 | 0 | 2007 | 2007 | ||||||||
|
alanyl-tRNA synthetase 1 | 0.647 | 0.462 | 1.8E-08 |
|
phenotype | 0.110 | None | 1.000 | 1 | 0 | 2006 | 2006 | ||||||||
|
galactosidase beta 1 | 0.448 | 0.808 | 7.9E-10 |
|
phenotype | 0.110 | None | 1.000 | 1 | 0 | 2017 | 2017 | ||||||||
|
arylsulfatase G | 0.666 | 0.423 | 6.4E-10 |
|
phenotype | 0.110 | None | 1.000 | 1 | 0 | 2015 | 2015 | ||||||||
|
sorting nexin 14 | 0.659 | 0.423 | 6.1E-17 |
|
phenotype | 0.110 | None | 1.000 | 1 | 0 | 2015 | 2015 | ||||||||
|
EBF transcription factor 3 | 0.595 | 0.731 | 1.00 |
|
phenotype | 0.110 | None | 1.000 | 1 | 0 | 2017 | 2017 | ||||||||
|
perforin 1 | 0.540 | 0.692 | 5.5E-06 |
|
phenotype | 0.110 | None | 1.000 | 1 | 0 | 2013 | 2013 | ||||||||
|
SPG11 vesicle trafficking associated, spatacsin | 0.576 | 0.538 | 1.6E-39 |
|
phenotype | 0.110 | None | 1.000 | 1 | 0 | 2016 | 2016 | ||||||||
|
galactose-1-phosphate uridylyltransferase | 0.612 | 0.654 | 2.1E-06 |
|
phenotype | 0.110 | None | 1.000 | 1 | 0 | 2017 | 2017 | ||||||||
|
vacuolar protein sorting 13 homolog D | 0.769 | 0.346 | 1.1E-06 |
|
phenotype | 0.110 | None | 1.000 | 1 | 0 | 2018 | 2018 |