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. | ||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
SPG7 matrix AAA peptidase subunit, paraplegin | 0.436 | 0.885 | 2.0E-36 |
|
disease | 0.430 | None | 1.000 | 3 | 2 | 1998 | 2013 | ||||||||
|
ADP ribosylation factor like GTPase 6 interacting protein 1 | 0.653 | 0.577 | 2.2E-02 |
|
disease | 0.410 | moderate | 1.000 | 1 | 0 | 2018 | 2018 | ||||||||
|
WD repeat domain 48 | 0.628 | 0.615 | 1.00 |
|
disease | 0.400 | moderate | 1.000 | 1 | 0 | 2014 | 2014 | ||||||||
|
solute carrier family 2 member 1 | 0.388 | 0.808 | 0.99 |
|
disease | 0.400 | None | 1.000 | 1 | 0 | 2016 | 2016 | ||||||||
|
lysosomal trafficking regulator | 0.621 | 0.692 | 1.5E-02 |
|
disease | 0.310 | None | 1.000 | 3 | 0 | 2014 | 2014 | ||||||||
|
GTP cyclohydrolase 1 | 0.511 | 0.846 | 0.90 |
|
disease | 0.310 | None | 1.000 | 2 | 0 | 2001 | 2011 | ||||||||
|
kinesin light chain 4 | 0.743 | 0.308 | 1.2E-03 |
|
disease | 0.310 | limited | 1.000 | 1 | 0 | 2015 | 2015 | ||||||||
|
HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 | 0.601 | 0.692 | 6.1E-06 |
|
disease | 0.300 | None | 1.000 | 1 | 0 | 2015 | 2015 | ||||||||
|
RAB3 GTPase activating non-catalytic protein subunit 2 | 0.584 | 0.769 | 0.99 |
|
disease | 0.300 | limited | 1.000 | 1 | 0 | 2014 | 2014 | ||||||||
|
spastin | 0.579 | 0.577 | 1.00 |
|
disease | 0.200 | None | 1.000 | 14 | 3 | 1998 | 2018 | ||||||||
|
kinesin family member 5A | 0.593 | 0.731 | 1.00 |
|
disease | 0.190 | None | 1.000 | 12 | 6 | 2001 | 2018 | ||||||||
|
SPG11 vesicle trafficking associated, spatacsin | 0.576 | 0.538 | 1.6E-39 |
|
disease | 0.180 | None | 1.000 | 8 | 0 | 2007 | 2019 | ||||||||
|
spartin | 0.588 | 0.654 | 3.0E-07 |
|
disease | 0.150 | None | 1.000 | 5 | 0 | 2010 | 2017 | ||||||||
|
atlastin GTPase 1 | 0.593 | 0.654 | 0.98 |
|
disease | 0.140 | None | 1.000 | 4 | 2 | 2004 | 2019 | ||||||||
|
DDHD domain containing 1 | 0.716 | 0.423 | 0.90 |
|
disease | 0.140 | None | 1.000 | 4 | 0 | 2007 | 2018 | ||||||||
|
proteolipid protein 1 | 0.543 | 0.769 | 0.93 |
|
disease | 0.140 | None | 1.000 | 4 | 0 | 1998 | 2019 | ||||||||
|
receptor accessory protein 1 | 0.653 | 0.423 | 0.99 |
|
disease | 0.130 | None | 1.000 | 3 | 3 | 2013 | 2018 | ||||||||
|
cytochrome P450 family 2 subfamily U member 1 | 0.722 | 0.462 | 1.4E-03 |
|
disease | 0.130 | None | 1.000 | 3 | 3 | 2016 | 2017 | ||||||||
|
cytochrome P450 family 7 subfamily B member 1 | 0.563 | 0.692 | 3.3E-06 |
|
disease | 0.120 | None | 1.000 | 13 | 10 | 1998 | 2016 | ||||||||
|
NIPA magnesium transporter 1 | 0.682 | 0.462 | 5.9E-03 |
|
disease | 0.120 | None | 1.000 | 2 | 1 | 2004 | 2006 | ||||||||
|
patatin like phospholipase domain containing 6 | 0.533 | 0.769 | 1.9E-13 |
|
disease | 0.120 | None | 1.000 | 2 | 0 | 2015 | 2019 | ||||||||
|
adenosine monophosphate deaminase 2 | 0.663 | 0.577 | 4.5E-07 |
|
disease | 0.120 | None | 1.000 | 2 | 0 | 2018 | 2019 | ||||||||
|
adaptor related protein complex 4 subunit beta 1 | 0.631 | 0.654 | 1.3E-09 |
|
disease | 0.120 | None | 1.000 | 2 | 0 | 2012 | 2019 | ||||||||
|
fatty acid 2-hydroxylase | 0.573 | 0.654 | 0.15 |
|
disease | 0.120 | None | 1.000 | 2 | 1 | 2011 | 2012 | ||||||||
|
glucosylceramidase beta 2 | 0.636 | 0.654 | 2.0E-20 |
|
disease | 0.120 | None | 1.000 | 2 | 1 | 2015 | 2018 |