| 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. | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
aldehyde dehydrogenase 3 family member A2 | 0.619 | 0.769 | 9.4E-06 |
|
disease | 0.300 | None | 0 | 0 | |||||||||||
|
alpha tocopherol transfer protein | 0.612 | 0.577 | 1.4E-03 |
|
disease | 0.300 | None | 0 | 0 | |||||||||||
|
aprataxin | 0.590 | 0.500 | 4.0E-10 |
|
disease | 0.300 | None | 1.000 | 1 | 0 | 2001 | 2001 | ||||||||
|
ATM serine/threonine kinase | 0.374 | 0.885 | 5.6E-47 |
|
disease | 0.300 | None | 0 | 0 | |||||||||||
|
ATPase copper transporting alpha | 0.494 | 0.769 | 1.00 |
|
disease | 0.300 | strong | 1.000 | 1 | 0 | 2010 | 2010 | ||||||||
|
calcium voltage-gated channel auxiliary subunit beta 4 | 0.653 | 0.231 | 3.1E-02 |
|
disease | 0.300 | None | 0 | 0 | |||||||||||
|
coenzyme Q8A | 0.674 | 0.385 | 9.3E-11 |
|
disease | 0.300 | None | 0 | 0 | |||||||||||
|
DnaJ heat shock protein family (Hsp40) member B2 | 0.743 | 0.192 | 5.4E-05 |
|
disease | 0.320 | strong | 1.000 | 1 | 0 | 2014 | 2017 | ||||||||
|
fibroblast growth factor 14 | 0.619 | 0.692 | 0.91 |
|
disease | 0.300 | None | 0 | 0 | |||||||||||
|
frataxin | 0.510 | 0.654 | 0.34 |
|
disease | 0.300 | None | 0 | 0 | |||||||||||
|
inositol 1,4,5-trisphosphate receptor type 1 | 0.534 | 0.846 | 1.00 |
|
disease | 0.300 | None | 0 | 0 | |||||||||||
|
kinesin family member 5A | 0.593 | 0.731 | 1.00 |
|
disease | 0.310 | strong | 1.000 | 0 | 0 | 2019 | 2019 | ||||||||
|
L1 cell adhesion molecule | 0.475 | 0.769 | 1.00 |
|
disease | 0.300 | None | 0 | 0 | |||||||||||
|
microsomal triglyceride transfer protein | 0.505 | 0.846 | 1.0E-05 |
|
disease | 0.300 | None | 1.000 | 1 | 0 | 1985 | 1985 | ||||||||
|
MRE11 homolog, double strand break repair nuclease | 0.527 | 0.808 | 1.3E-12 |
|
disease | 0.300 | None | 0 | 0 | |||||||||||
|
neurotrophic receptor tyrosine kinase 1 | 0.422 | 0.808 | 2.0E-06 |
|
disease | 0.310 | strong | 1.000 | 1 | 0 | 2017 | 2019 | ||||||||
|
NIPA magnesium transporter 1 | 0.682 | 0.462 | 5.9E-03 |
|
disease | 0.300 | None | 1.000 | 2 | 0 | 2003 | 2005 | ||||||||
|
patatin like phospholipase domain containing 6 | 0.533 | 0.769 | 1.9E-13 |
|
disease | 0.300 | moderate | 1.000 | 1 | 0 | 2014 | 2014 | ||||||||
|
peroxisomal biogenesis factor 7 | 0.603 | 0.615 | 8.2E-13 |
|
disease | 0.300 | None | 0 | 0 | |||||||||||
|
phytanoyl-CoA 2-hydroxylase | 0.659 | 0.577 | 2.4E-06 |
|
disease | 0.300 | None | 0 | 0 | |||||||||||
|
potassium voltage-gated channel subfamily A member 1 | 0.573 | 0.577 | 7.6E-02 |
|
disease | 0.300 | None | 0 | 0 | |||||||||||
|
potassium voltage-gated channel subfamily C member 3 | 0.705 | 0.462 | 0.21 |
|
disease | 0.300 | None | 0 | 0 | |||||||||||
|
protein kinase C gamma | 0.617 | 0.500 | 1.00 |
|
disease | 0.300 | moderate | 1.000 | 1 | 0 | 2018 | 2018 | ||||||||
|
proteolipid protein 1 | 0.543 | 0.769 | 0.93 |
|
disease | 0.300 | moderate | 0 | 0 | |||||||||||
|
sacsin molecular chaperone | 0.606 | 0.654 | 1.1E-23 |
|
disease | 0.300 | None | 0 | 0 |