| 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. | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
prolyl endopeptidase like | 0.644 | 0.538 | 2.2E-13 |
|
phenotype | 0.110 | None | 1.000 | 1 | 0 | 2006 | 2006 | ||||||||
|
solute carrier family 25 member 3 | 0.566 | 0.692 | 7.5E-02 |
|
phenotype | 0.110 | None | 1.000 | 1 | 0 | 2007 | 2007 | ||||||||
|
4-aminobutyrate aminotransferase | 0.628 | 0.538 | 6.3E-03 |
|
phenotype | 0.300 | None | 1.000 | 1 | 0 | 1999 | 1999 | ||||||||
|
dopa decarboxylase | 0.535 | 0.769 | 3.8E-08 |
|
phenotype | 0.300 | None | 1.000 | 1 | 0 | 2009 | 2009 | ||||||||
|
paired box 7 | 0.597 | 0.538 | 0.14 |
|
phenotype | 0.300 | None | 1.000 | 1 | 0 | 2019 | 2019 | ||||||||
|
activating signal cointegrator 1 complex subunit 1 | 0.495 | 0.846 | 2.6E-14 |
|
phenotype | 0.300 | strong | 1.000 | 1 | 0 | 2018 | 2018 | ||||||||
|
Ral GTPase activating protein catalytic subunit alpha 1 | 0.861 | 0.231 | 1.00 |
|
phenotype | 0.300 | None | 1.000 | 1 | 0 | 2020 | 2020 | ||||||||
|
ataxin 7 | 0.581 | 0.654 | 0.96 |
|
phenotype | 0.010 | None | 1.000 | 1 | 0 | 2007 | 2007 | ||||||||
|
prolyl 4-hydroxylase, transmembrane | 0.666 | 0.500 | 3.9E-09 |
|
phenotype | 0.300 | strong | 1.000 | 1 | 0 | 2014 | 2014 | ||||||||
|
nudix hydrolase 2 | 0.780 | 0.154 | 5.7E-03 |
|
phenotype | 0.300 | moderate | 1.000 | 1 | 0 | 2018 | 2018 | ||||||||
|
ABL proto-oncogene 1, non-receptor tyrosine kinase | 0.432 | 0.923 | 1.00 |
|
phenotype | 0.010 | None | 1.000 | 1 | 0 | 2003 | 2003 | ||||||||
|
carbohydrate sulfotransferase 14 | 0.638 | 0.654 | 0.45 |
|
phenotype | 0.300 | None | 1.000 | 1 | 0 | 2010 | 2010 | ||||||||
|
leucine zipper and EF-hand containing transmembrane protein 1 | 0.545 | 0.692 | 1.2E-06 |
|
phenotype | 0.400 | None | 1.000 | 1 | 0 | 2004 | 2004 | ||||||||
|
glycine decarboxylase | 0.628 | 0.577 | 6.6E-28 |
|
phenotype | 0.110 | None | 1.000 | 1 | 0 | 2005 | 2005 | ||||||||
|
lanosterol synthase | 0.606 | 0.654 | 1.8E-07 |
|
phenotype | 0.300 | moderate | 1.000 | 1 | 0 | 2017 | 2017 | ||||||||
|
integrator complex subunit 1 | 0.666 | 0.500 | 7.1E-11 |
|
phenotype | 0.300 | strong | 1.000 | 1 | 0 | 2007 | 2007 | ||||||||
|
protein phosphatase 2 catalytic subunit alpha | 0.608 | 0.769 | 0.99 |
|
phenotype | 0.300 | strong | 1.000 | 1 | 0 | 2019 | 2019 | ||||||||
|
ribonucleotide reductase regulatory TP53 inducible subunit M2B | 0.527 | 0.769 | 2.4E-03 |
|
phenotype | 0.400 | None | 1.000 | 1 | 0 | 2009 | 2009 | ||||||||
|
nuclear receptor binding SET domain protein 2 | 0.507 | 0.769 | 1.00 |
|
phenotype | 0.400 | strong | 1.000 | 1 | 0 | 2018 | 2018 | ||||||||
|
POU class 1 homeobox 1 | 0.548 | 0.654 | 4.5E-02 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
ring finger protein 216 | 0.670 | 0.615 | 2.3E-06 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
reticulophagy regulator 1 | 0.623 | 0.538 | 6.4E-06 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
DGCR8 microprocessor complex subunit | 0.579 | 0.731 | 1.00 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
pyruvate dehyrogenase phosphatase catalytic subunit 1 | 0.691 | 0.462 | 0.45 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
NADH:ubiquinone oxidoreductase subunit B11 | 0.566 | 0.692 | 0.80 |
|
phenotype | 0.100 | None | 0 | 0 |