| 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. | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
bridging integrator 1 | 0.550 | 0.692 | 0.78 |
|
phenotype | 0.310 | None | 1.000 | 1 | 0 | 2016 | 2018 | ||||||||
|
sortilin related receptor 1 | 0.582 | 0.692 | 7.7E-11 |
|
phenotype | 0.310 | None | 1.000 | 1 | 0 | 2016 | 2018 | ||||||||
|
calcium voltage-gated channel subunit alpha1 C | 0.510 | 0.846 | 1.00 |
|
phenotype | 0.310 | None | 1.000 | 1 | 0 | 2018 | 2018 | ||||||||
|
N-acetyl-alpha-glucosaminidase | 0.546 | 0.769 | 1.4E-08 |
|
phenotype | 0.110 | None | 1.000 | 1 | 0 | 1996 | 1996 | ||||||||
|
cystatin B | 0.530 | 0.692 | 6.6E-03 |
|
phenotype | 0.110 | None | 1.000 | 1 | 0 | 1997 | 1997 | ||||||||
|
calcium voltage-gated channel subunit alpha1 A | 0.489 | 0.769 | 1.00 |
|
phenotype | 0.110 | None | 1.000 | 1 | 0 | 2011 | 2011 | ||||||||
|
methyl-CpG binding protein 2 | 0.414 | 0.846 | 0.89 |
|
phenotype | 0.110 | None | 1.000 | 1 | 0 | 2018 | 2018 | ||||||||
|
sequestosome 1 | 0.428 | 0.885 | 8.6E-04 |
|
phenotype | 0.110 | None | 1.000 | 1 | 0 | 2016 | 2016 | ||||||||
|
sodium voltage-gated channel alpha subunit 1 | 0.477 | 0.808 | 1.00 |
|
phenotype | 0.110 | None | 1.000 | 1 | 0 | 2014 | 2014 | ||||||||
|
TATA-box binding protein | 0.552 | 0.846 | 1.5E-02 |
|
phenotype | 0.110 | None | 1.000 | 1 | 0 | 1999 | 1999 | ||||||||
|
chromosome 19 open reading frame 12 | 0.641 | 0.615 | 0.34 |
|
phenotype | 0.110 | None | 1.000 | 1 | 0 | 2013 | 2013 | ||||||||
|
TANK binding kinase 1 | 0.513 | 0.846 | 7.5E-02 |
|
phenotype | 0.110 | None | 1.000 | 1 | 0 | 2018 | 2018 | ||||||||
|
colony stimulating factor 1 receptor | 0.448 | 0.808 | 0.13 |
|
phenotype | 0.110 | None | 1.000 | 1 | 0 | 2014 | 2014 | ||||||||
|
phospholipase A2 group VI | 0.476 | 0.846 | 2.5E-10 |
|
phenotype | 0.110 | None | 1.000 | 1 | 0 | 2010 | 2010 | ||||||||
|
HtrA serine peptidase 1 | 0.532 | 0.692 | 4.9E-04 |
|
phenotype | 0.110 | None | 1.000 | 1 | 0 | 2009 | 2016 | ||||||||
|
arylsulfatase A | 0.448 | 0.923 | 1.1E-11 |
|
phenotype | 0.110 | None | 1.000 | 1 | 0 | 2019 | 2019 | ||||||||
|
SPG11 vesicle trafficking associated, spatacsin | 0.576 | 0.538 | 1.6E-39 |
|
phenotype | 0.110 | None | 1.000 | 1 | 0 | 2009 | 2010 | ||||||||
|
solute carrier family 1 member 2 | 0.511 | 0.731 | 0.71 |
|
phenotype | 0.110 | None | 1.000 | 1 | 0 | 2019 | 2019 | ||||||||
|
vacuolar protein sorting 13 homolog C | 0.653 | 0.346 | 7.6E-49 |
|
phenotype | 0.110 | None | 1.000 | 1 | 0 | 2016 | 2016 | ||||||||
|
ectonucleotide pyrophosphatase/phosphodiesterase 2 | 0.582 | 0.769 | 2.8E-03 |
|
phenotype | 0.010 | None | 1.000 | 1 | 0 | 2019 | 2019 | ||||||||
|
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | 0.292 | 0.923 | 1.00 |
|
phenotype | 0.010 | None | 1.000 | 1 | 0 | 2017 | 2017 | ||||||||
|
solute carrier family 26 member 4 | 0.507 | 0.885 | 9.0E-22 |
|
phenotype | 0.010 | None | 1.000 | 1 | 0 | 2000 | 2000 | ||||||||
|
hook microtubule tethering protein 1 | 0.716 | 0.462 | 3.9E-08 |
|
phenotype | 0.010 | None | 1.000 | 1 | 0 | 2018 | 2018 | ||||||||
|
ABI family member 3 | 0.716 | 0.231 | 5.0E-05 |
|
phenotype | 0.010 | None | 1.000 | 1 | 1 | 2019 | 2019 | ||||||||
|
NME/NM23 family member 8 | 0.644 | 0.692 | 5.6E-28 |
|
phenotype | 0.010 | None | 1.000 | 1 | 0 | 2014 | 2014 |