| 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. | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
phosphodiesterase 8B | 0.638 | 0.500 | 1.00 |
|
disease | 0.400 | None | 1.000 | 0 | 0 | 2010 | 2010 | ||||||||
|
NPC intracellular cholesterol transporter 1 | 0.518 | 0.692 | 6.5E-06 |
|
disease | 0.400 | None | 1.000 | 0 | 0 | 2011 | 2011 | ||||||||
|
presenilin 1 | 0.469 | 0.846 | 0.97 |
|
disease | 0.130 | None | 1.000 | 0 | 0 | 2004 | 2008 | ||||||||
|
ceruloplasmin | 0.466 | 0.846 | 4.2E-10 |
|
disease | 0.130 | None | 1.000 | 0 | 0 | 1996 | 2018 | ||||||||
|
pantothenate kinase 2 | 0.559 | 0.808 | 7.4E-07 |
|
disease | 0.130 | None | 1.000 | 0 | 0 | 2004 | 2018 | ||||||||
|
frataxin | 0.510 | 0.654 | 0.34 |
|
disease | 0.110 | None | 1.000 | 0 | 0 | 1999 | 1999 | ||||||||
|
xenotropic and polytropic retrovirus receptor 1 | 0.488 | 0.731 | 1.00 |
|
disease | 0.110 | None | 1.000 | 0 | 0 | 2016 | 2016 | ||||||||
|
gap junction protein beta 1 | 0.514 | 0.731 | 0.85 |
|
disease | 0.110 | None | 1.000 | 0 | 0 | 2008 | 2008 | ||||||||
|
forkhead box P2 | 0.545 | 0.808 | 1.00 |
|
disease | 0.110 | None | 1.000 | 0 | 0 | 2013 | 2013 | ||||||||
|
ubiquilin 2 | 0.656 | 0.462 | 0.85 |
|
disease | 0.110 | None | 1.000 | 0 | 0 | 2013 | 2013 | ||||||||
|
DNA polymerase gamma, catalytic subunit | 0.457 | 0.846 | 2.1E-09 |
|
disease | 0.110 | None | 1.000 | 0 | 0 | 2015 | 2015 | ||||||||
|
spermine synthase | 0.491 | 0.846 | 0.97 |
|
disease | 0.110 | None | 1.000 | 0 | 0 | 2013 | 2013 | ||||||||
|
inositol 1,4,5-trisphosphate receptor type 1 | 0.534 | 0.846 | 1.00 |
|
disease | 0.110 | None | 1.000 | 0 | 0 | 2011 | 2011 | ||||||||
|
NK2 homeobox 1 | 0.457 | 0.808 | 0.36 |
|
disease | 0.110 | None | 1.000 | 0 | 0 | 2004 | 2004 | ||||||||
|
glutamate ionotropic receptor NMDA type subunit 2A | 0.522 | 0.808 | 1.00 |
|
disease | 0.110 | None | < 0.001 | 0 | 0 | 2015 | 2015 | ||||||||
|
catenin beta 1 | 0.303 | 0.885 | 1.00 |
|
disease | 0.100 | None | 1.000 | 3 | 1 | 1989 | 2017 | ||||||||
|
tubulin beta 4A class IVa | 0.608 | 0.615 | 0.11 |
|
disease | 0.100 | None | 1.000 | 1 | 1 | 2014 | 2014 | ||||||||
|
aprataxin | 0.590 | 0.500 | 4.0E-10 |
|
disease | 0.100 | None | 1.000 | 1 | 1 | 2017 | 2017 | ||||||||
|
transport and golgi organization 2 homolog | 0.666 | 0.615 | 1.5E-04 |
|
disease | 0.100 | None | 1.000 | 1 | 1 | 2016 | 2016 | ||||||||
|
SPG7 matrix AAA peptidase subunit, paraplegin | 0.436 | 0.885 | 2.0E-36 |
|
disease | 0.100 | None | 1.000 | 1 | 9 | 2016 | 2016 | ||||||||
|
NADH dehydrogenase, subunit 6 (complex I) | 0.544 | 0.808 |
|
disease | 0.100 | None | 1.000 | 1 | 1 | 2016 | 2016 | |||||||||
|
EBF transcription factor 3 | 0.595 | 0.731 | 1.00 |
|
disease | 0.100 | None | 1.000 | 1 | 1 | 2017 | 2017 | ||||||||
|
abhydrolase domain containing 12 | 0.666 | 0.385 | 1.9E-05 |
|
disease | 0.100 | None | 1.000 | 1 | 1 | 2018 | 2018 | ||||||||
|
RAN binding protein 2 | 0.578 | 0.615 | 1.00 |
|
disease | 0.100 | None | 0 | 0 | |||||||||||
|
PR/SET domain 8 | 0.678 | 0.462 | 0.78 |
|
disease | 0.100 | None | 0 | 0 |