| 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. | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
spectrin repeat containing nuclear envelope protein 1 | 0.511 | 0.846 | 3.2E-52 |
|
phenotype | 0.500 | None | 1.000 | 0 | 1 | 2007 | 2019 | ||||||||
|
calcium voltage-gated channel subunit alpha1 A | 0.489 | 0.769 | 1.00 |
|
phenotype | 0.400 | None | 1.000 | 0 | 3 | 1997 | 2019 | ||||||||
|
aprataxin | 0.590 | 0.500 | 4.0E-10 |
|
phenotype | 0.200 | None | 0.958 | 1 | 2 | 2000 | 2018 | ||||||||
|
twinkle mtDNA helicase | 0.516 | 0.692 | 3.2E-03 |
|
phenotype | 0.200 | None | 1.000 | 1 | 3 | 1997 | 2016 | ||||||||
|
ATM serine/threonine kinase | 0.374 | 0.885 | 5.6E-47 |
|
phenotype | 0.200 | None | 1.000 | 0 | 1 | 1998 | 2020 | ||||||||
|
ATPase Na+/K+ transporting subunit alpha 3 | 0.544 | 0.615 | 1.00 |
|
phenotype | 0.200 | None | 1.000 | 0 | 1 | 2012 | 2019 | ||||||||
|
senataxin | 0.570 | 0.731 | 0.95 |
|
phenotype | 0.200 | None | 0.960 | 0 | 1 | 2005 | 2018 | ||||||||
|
glutamate metabotropic receptor 1 | 0.528 | 0.808 | 0.14 |
|
phenotype | 0.190 | None | 0.667 | 0 | 1 | 2010 | 2019 | ||||||||
|
carbonic anhydrase 8 | 0.595 | 0.654 | 8.3E-03 |
|
phenotype | 0.170 | None | 1.000 | 0 | 1 | 2010 | 2019 | ||||||||
|
SPG7 matrix AAA peptidase subunit, paraplegin | 0.436 | 0.885 | 2.0E-36 |
|
phenotype | 0.160 | None | 1.000 | 1 | 6 | 2009 | 2019 | ||||||||
|
patatin like phospholipase domain containing 6 | 0.533 | 0.769 | 1.9E-13 |
|
phenotype | 0.150 | None | 1.000 | 0 | 2 | 2014 | 2019 | ||||||||
|
NPC intracellular cholesterol transporter 1 | 0.518 | 0.692 | 6.5E-06 |
|
phenotype | 0.150 | None | 1.000 | 0 | 2 | 1999 | 2019 | ||||||||
|
solute carrier family 2 member 1 | 0.388 | 0.808 | 0.99 |
|
phenotype | 0.130 | None | 1.000 | 0 | 1 | 2010 | 2015 | ||||||||
|
potassium inwardly rectifying channel subfamily J member 10 | 0.599 | 0.654 | 0.15 |
|
phenotype | 0.120 | None | 1.000 | 0 | 1 | 2013 | 2018 | ||||||||
|
methyl-CpG binding protein 2 | 0.414 | 0.846 | 0.89 |
|
phenotype | 0.120 | None | 1.000 | 0 | 1 | 2009 | 2012 | ||||||||
|
phosphomannomutase 2 | 0.535 | 0.769 | 1.4E-17 |
|
phenotype | 0.120 | None | 1.000 | 0 | 2 | 2015 | 2018 | ||||||||
|
protocadherin 12 | 0.722 | 0.346 | 2.9E-13 |
|
phenotype | 0.110 | None | 1.000 | 1 | 1 | 2019 | 2019 | ||||||||
|
EBF transcription factor 3 | 0.595 | 0.731 | 1.00 |
|
phenotype | 0.110 | None | 1.000 | 1 | 1 | 2017 | 2017 | ||||||||
|
SURF1 cytochrome c oxidase assembly factor | 0.578 | 0.654 | 1.6E-13 |
|
phenotype | 0.110 | None | 1.000 | 1 | 3 | 2013 | 2016 | ||||||||
|
RNA polymerase III subunit B | 0.628 | 0.654 | 1.7E-23 |
|
phenotype | 0.110 | None | 1.000 | 0 | 1 | 2019 | 2019 | ||||||||
|
phospholipase A2 group VI | 0.476 | 0.846 | 2.5E-10 |
|
phenotype | 0.110 | None | 1.000 | 0 | 1 | 2019 | 2019 | ||||||||
|
ERCC excision repair 8, CSA ubiquitin ligase complex subunit | 0.551 | 0.885 | 2.8E-15 |
|
phenotype | 0.110 | None | 1.000 | 0 | 1 | 2019 | 2019 | ||||||||
|
heat shock protein family B (small) member 1 | 0.436 | 0.808 | 2.8E-07 |
|
phenotype | 0.110 | None | 1.000 | 0 | 1 | 2013 | 2013 | ||||||||
|
RNA polymerase III subunit A | 0.538 | 0.769 | 1.3E-23 |
|
phenotype | 0.110 | None | 1.000 | 0 | 1 | 2017 | 2017 | ||||||||
|
potassium voltage-gated channel subfamily B member 1 | 0.650 | 0.462 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 2 | 1 | 2017 | 2017 |