| 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. | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
patatin like phospholipase domain containing 6 | 0.533 | 0.769 | 1.9E-13 |
|
phenotype | 0.150 | None | 1.000 | 5 | 0 | 2014 | 2019 | ||||||||
|
coenzyme Q8A | 0.674 | 0.385 | 9.3E-11 |
|
phenotype | 0.150 | None | 1.000 | 5 | 1 | 2008 | 2019 | ||||||||
|
carbonic anhydrase 8 | 0.595 | 0.654 | 8.3E-03 |
|
phenotype | 0.150 | None | 1.000 | 5 | 1 | 2010 | 2018 | ||||||||
|
potassium voltage-gated channel subfamily A member 1 | 0.573 | 0.577 | 7.6E-02 |
|
phenotype | 0.150 | None | 1.000 | 4 | 2 | 2001 | 2016 | ||||||||
|
cytochrome c oxidase assembly factor COX20 | 0.705 | 0.538 | 2.0E-02 |
|
phenotype | 0.140 | None | 1.000 | 4 | 1 | 2013 | 2019 | ||||||||
|
cytochrome c oxidase subunit 8A | 0.400 | 0.846 | 0.12 |
|
phenotype | 0.140 | None | 1.000 | 4 | 0 | 2010 | 2019 | ||||||||
|
potassium voltage-gated channel subfamily A member 2 | 0.612 | 0.577 | 0.91 |
|
phenotype | 0.140 | None | 0.750 | 4 | 1 | 2012 | 2016 | ||||||||
|
cystatin B | 0.530 | 0.692 | 6.6E-03 |
|
phenotype | 0.140 | None | 1.000 | 4 | 0 | 1998 | 2016 | ||||||||
|
peroxisomal biogenesis factor 10 | 0.584 | 0.654 | 5.4E-04 |
|
phenotype | 0.130 | None | 1.000 | 3 | 0 | 2010 | 2019 | ||||||||
|
alanyl-tRNA synthetase 2, mitochondrial | 0.644 | 0.500 | 5.0E-17 |
|
phenotype | 0.130 | None | 1.000 | 3 | 0 | 2006 | 2020 | ||||||||
|
methyl-CpG binding protein 2 | 0.414 | 0.846 | 0.89 |
|
phenotype | 0.130 | None | 1.000 | 3 | 0 | 2009 | 2012 | ||||||||
|
golgi SNAP receptor complex member 2 | 0.653 | 0.423 | 4.7E-07 |
|
phenotype | 0.130 | None | 1.000 | 3 | 0 | 2011 | 2019 | ||||||||
|
sodium voltage-gated channel alpha subunit 1 | 0.477 | 0.808 | 1.00 |
|
phenotype | 0.130 | None | 1.000 | 3 | 0 | 2006 | 2011 | ||||||||
|
C9orf72-SMCR8 complex subunit | 0.496 | 0.769 | 1.1E-06 |
|
phenotype | 0.130 | None | 1.000 | 3 | 0 | 2013 | 2017 | ||||||||
|
OPA1 mitochondrial dynamin like GTPase | 0.510 | 0.846 | 0.99 |
|
phenotype | 0.130 | None | 1.000 | 2 | 1 | 2008 | 2016 | ||||||||
|
phosphomannomutase 2 | 0.535 | 0.769 | 1.4E-17 |
|
phenotype | 0.130 | None | 1.000 | 2 | 0 | 2007 | 2018 | ||||||||
|
DnaJ heat shock protein family (Hsp40) member C19 | 0.663 | 0.577 | 6.1E-04 |
|
phenotype | 0.130 | None | 1.000 | 2 | 0 | 2006 | 2019 | ||||||||
|
transthyretin | 0.423 | 0.885 | 0.52 |
|
phenotype | 0.120 | None | 1.000 | 2 | 1 | 2007 | 2015 | ||||||||
|
dihydrolipoamide dehydrogenase | 0.517 | 0.769 | 9.5E-03 |
|
phenotype | 0.120 | None | 1.000 | 2 | 0 | 1980 | 1981 | ||||||||
|
ATPase plasma membrane Ca2+ transporting 3 | 0.631 | 0.692 | 1.00 |
|
phenotype | 0.120 | None | 0.500 | 2 | 0 | 2013 | 2016 | ||||||||
|
potassium inwardly rectifying channel subfamily J member 10 | 0.599 | 0.654 | 0.15 |
|
phenotype | 0.120 | None | 1.000 | 2 | 0 | 2013 | 2018 | ||||||||
|
sterile alpha motif domain containing 9 like | 0.700 | 0.500 | 5.6E-15 |
|
phenotype | 0.120 | None | 1.000 | 2 | 0 | 2018 | 2019 | ||||||||
|
atrophin 1 | 0.409 | 0.885 | 1.00 |
|
phenotype | 0.120 | None | 1.000 | 2 | 1 | 1999 | 2006 | ||||||||
|
NK2 homeobox 1 | 0.457 | 0.808 | 0.36 |
|
phenotype | 0.120 | None | 1.000 | 2 | 0 | 2004 | 2014 | ||||||||
|
pleckstrin homology and RhoGEF domain containing G4 | 0.769 | 0.154 | 1.1E-16 |
|
phenotype | 0.120 | None | 1.000 | 2 | 0 | 2002 | 2006 |