| 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. | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
ataxin 2 | 0.482 | 0.808 | 0.85 |
|
phenotype | 0.150 | None | 1.000 | 0 | 0 | 2010 | 2019 | ||||||||
|
ubiquitin C-terminal hydrolase L1 | 0.482 | 0.885 | 0.99 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
platelet derived growth factor subunit B | 0.488 | 0.846 | 0.77 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
calcium voltage-gated channel subunit alpha1 A | 0.489 | 0.769 | 1.00 |
|
phenotype | 0.480 | None | 1.000 | 0 | 0 | 1999 | 2020 | ||||||||
|
C9orf72-SMCR8 complex subunit | 0.496 | 0.769 | 1.1E-06 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
glucosylceramidase beta | 0.500 | 0.808 | 1.4E-06 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
hypoxanthine phosphoribosyltransferase 1 | 0.500 | 0.808 | 0.94 |
|
phenotype | 0.400 | limited | 1.000 | 0 | 0 | 2010 | 2010 | ||||||||
|
adenosine deaminase RNA specific | 0.501 | 0.808 | 2.6E-02 |
|
phenotype | 0.440 | None | 1.000 | 0 | 0 | 2006 | 2016 | ||||||||
|
leucine rich repeat kinase 2 | 0.510 | 0.808 | 2.6E-30 |
|
phenotype | 0.120 | None | 1.000 | 0 | 0 | 2007 | 2016 | ||||||||
|
translocase of inner mitochondrial membrane 8A | 0.510 | 0.846 | 0.65 |
|
phenotype | 0.170 | None | 1.000 | 0 | 0 | 2000 | 2010 | ||||||||
|
frataxin | 0.510 | 0.654 | 0.34 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
glutamate ionotropic receptor NMDA type subunit 2B | 0.510 | 0.692 | 1.00 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
OFD1 centriole and centriolar satellite protein | 0.510 | 0.808 | 0.96 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
GTP cyclohydrolase 1 | 0.511 | 0.846 | 0.90 |
|
phenotype | 0.700 | None | 0.982 | 0 | 0 | 1991 | 2019 | ||||||||
|
solute carrier family 9 member A6 | 0.516 | 0.846 | 1.00 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
aristaless related homeobox | 0.516 | 0.654 | 0.91 |
|
phenotype | 0.460 | None | 1.000 | 0 | 0 | 2002 | 2015 | ||||||||
|
PTEN induced kinase 1 | 0.516 | 0.769 | 1.9E-10 |
|
phenotype | 0.420 | strong | 1.000 | 0 | 0 | 2004 | 2015 | ||||||||
|
three prime repair exonuclease 1 | 0.517 | 0.808 | 0.58 |
|
phenotype | 0.400 | limited | 1.000 | 0 | 0 | 2014 | 2014 | ||||||||
|
dihydrolipoamide dehydrogenase | 0.517 | 0.769 | 9.5E-03 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
succinate dehydrogenase complex flavoprotein subunit A | 0.517 | 0.731 | 2.6E-10 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
triosephosphate isomerase 1 | 0.517 | 0.846 | 3.0E-02 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
NPC intracellular cholesterol transporter 1 | 0.518 | 0.692 | 6.5E-06 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
sodium voltage-gated channel alpha subunit 2 | 0.518 | 0.731 | 1.00 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
ataxin 3 | 0.521 | 0.808 | 0.11 |
|
phenotype | 0.170 | None | 1.000 | 0 | 0 | 2003 | 2018 | ||||||||
|
forkhead box G1 | 0.522 | 0.692 | 0.94 |
|
phenotype | 0.400 | None | 1.000 | 0 | 0 | 2017 | 2017 |