| 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. | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
eukaryotic translation initiation factor 2B subunit epsilon | 0.615 | 0.769 | 6.4E-02 |
|
phenotype | 0.400 | None | 1.000 | 0 | 0 | 1977 | 1977 | ||||||||
|
polyglutamine binding protein 1 | 0.570 | 0.654 | 0.79 |
|
phenotype | 0.400 | None | 1.000 | 0 | 0 | 2018 | 2018 | ||||||||
|
actin like 6B | 0.656 | 0.462 | 2.8E-04 |
|
phenotype | 0.400 | strong | 1.000 | 0 | 0 | 2019 | 2019 | ||||||||
|
methyl-CpG binding protein 2 | 0.414 | 0.846 | 0.89 |
|
phenotype | 0.190 | None | 1.000 | 0 | 0 | 2000 | 2016 | ||||||||
|
sacsin molecular chaperone | 0.606 | 0.654 | 1.1E-23 |
|
phenotype | 0.150 | None | 1.000 | 0 | 0 | 2004 | 2011 | ||||||||
|
L1 cell adhesion molecule | 0.475 | 0.769 | 1.00 |
|
phenotype | 0.140 | None | 1.000 | 0 | 0 | 2001 | 2019 | ||||||||
|
ataxin 3 | 0.521 | 0.808 | 0.11 |
|
phenotype | 0.130 | None | 1.000 | 0 | 0 | 2000 | 2009 | ||||||||
|
alsin Rho guanine nucleotide exchange factor ALS2 | 0.647 | 0.423 | 8.7E-12 |
|
phenotype | 0.130 | None | 1.000 | 0 | 0 | 2002 | 2006 | ||||||||
|
solute carrier family 2 member 1 | 0.388 | 0.808 | 0.99 |
|
phenotype | 0.130 | None | 1.000 | 0 | 0 | 2011 | 2019 | ||||||||
|
superoxide dismutase 1 | 0.379 | 0.962 | 0.18 |
|
phenotype | 0.130 | None | 1.000 | 0 | 0 | 2005 | 2019 | ||||||||
|
catenin beta 1 | 0.303 | 0.885 | 1.00 |
|
phenotype | 0.120 | None | 1.000 | 0 | 0 | 2014 | 2017 | ||||||||
|
BSCL2 lipid droplet biogenesis associated, seipin | 0.545 | 0.692 | 1.1E-09 |
|
phenotype | 0.120 | None | 1.000 | 0 | 0 | 2004 | 2004 | ||||||||
|
outer mitochondrial membrane lipid metabolism regulator OPA3 | 0.653 | 0.385 | 0.57 |
|
phenotype | 0.120 | None | 1.000 | 0 | 0 | 2005 | 2015 | ||||||||
|
aldehyde dehydrogenase 3 family member A2 | 0.619 | 0.769 | 9.4E-06 |
|
phenotype | 0.120 | None | 1.000 | 0 | 0 | 2001 | 2006 | ||||||||
|
ataxin 2 | 0.482 | 0.808 | 0.85 |
|
phenotype | 0.110 | None | 1.000 | 0 | 0 | 2000 | 2000 | ||||||||
|
major histocompatibility complex, class II, DR beta 1 | 0.333 | 0.923 | 1.1E-03 |
|
phenotype | 0.110 | None | 1.000 | 0 | 0 | 2007 | 2007 | ||||||||
|
vacuolar protein sorting 13 homolog D | 0.769 | 0.346 | 1.1E-06 |
|
phenotype | 0.110 | None | 1.000 | 0 | 0 | 2018 | 2018 | ||||||||
|
aspartyl-tRNA synthetase 2, mitochondrial | 0.638 | 0.577 | 9.8E-13 |
|
phenotype | 0.110 | None | 1.000 | 0 | 0 | 2018 | 2018 | ||||||||
|
arginyl-tRNA synthetase 1 | 0.604 | 0.538 | 3.3E-08 |
|
phenotype | 0.110 | None | 1.000 | 0 | 0 | 2020 | 2020 | ||||||||
|
ATPase cation transporting 13A2 | 0.566 | 0.577 | 9.0E-09 |
|
phenotype | 0.110 | None | 1.000 | 0 | 0 | 2015 | 2015 | ||||||||
|
tRNA splicing endonuclease subunit 54 | 0.659 | 0.500 | 1.8E-07 |
|
phenotype | 0.110 | None | 1.000 | 0 | 0 | 2011 | 2011 | ||||||||
|
glutamate ionotropic receptor kainate type subunit 2 | 0.561 | 0.769 | 1.00 |
|
phenotype | 0.110 | None | 1.000 | 0 | 0 | 1993 | 1993 | ||||||||
|
chromosome 19 open reading frame 12 | 0.641 | 0.615 | 0.34 |
|
phenotype | 0.110 | None | 1.000 | 0 | 0 | 2019 | 2019 | ||||||||
|
RNA polymerase III subunit B | 0.628 | 0.654 | 1.7E-23 |
|
phenotype | 0.110 | None | 1.000 | 0 | 0 | 2015 | 2015 | ||||||||
|
RAB18, member RAS oncogene family | 0.582 | 0.692 | 0.91 |
|
phenotype | 0.110 | None | 1.000 | 0 | 0 | 2019 | 2019 |