| 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. | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
alkB homolog 8, tRNA methyltransferase | 0.716 | 0.423 | 2.0E-04 |
|
phenotype | 0.400 | None | 1.000 | 1 | 0 | 2019 | 2019 | ||||||||
|
glycine decarboxylase | 0.628 | 0.577 | 6.6E-28 |
|
phenotype | 0.400 | strong | 1.000 | 1 | 0 | 2004 | 2004 | ||||||||
|
neurobeachin | 0.760 | 0.538 | 1.00 |
|
phenotype | 0.400 | strong | 1.000 | 1 | 0 | 2013 | 2018 | ||||||||
|
TBC1 domain containing kinase | 0.650 | 0.654 | 2.1E-15 |
|
phenotype | 0.400 | strong | 1.000 | 1 | 0 | 2016 | 2016 | ||||||||
|
5-methyltetrahydrofolate-homocysteine methyltransferase | 0.482 | 0.808 | 2.4E-12 |
|
phenotype | 0.400 | moderate | 1.000 | 1 | 0 | 2017 | 2017 | ||||||||
|
alpha-N-acetylgalactosaminidase | 0.647 | 0.538 | 1.8E-11 |
|
phenotype | 0.400 | strong | 1.000 | 1 | 0 | 1996 | 1996 | ||||||||
|
fukutin related protein | 0.513 | 0.731 | 9.8E-06 |
|
phenotype | 0.400 | moderate | 1.000 | 1 | 0 | 2001 | 2001 | ||||||||
|
interferon induced with helicase C domain 1 | 0.471 | 0.808 | 7.0E-44 |
|
phenotype | 0.400 | strong | 1.000 | 1 | 0 | 2018 | 2018 | ||||||||
|
HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 | 0.601 | 0.692 | 6.1E-06 |
|
phenotype | 0.400 | None | 1.000 | 1 | 0 | 2015 | 2015 | ||||||||
|
protein phosphatase 2 catalytic subunit alpha | 0.608 | 0.769 | 0.99 |
|
phenotype | 0.400 | strong | 1.000 | 1 | 0 | 2019 | 2019 | ||||||||
|
transmembrane protein 70 | 0.636 | 0.654 | 2.9E-02 |
|
phenotype | 0.400 | moderate | 1.000 | 1 | 0 | 2014 | 2014 | ||||||||
|
fatty acid 2-hydroxylase | 0.573 | 0.654 | 0.15 |
|
phenotype | 0.400 | strong | 1.000 | 1 | 0 | 2019 | 2019 | ||||||||
|
tubulin alpha 8 | 0.691 | 0.385 | 3.6E-05 |
|
phenotype | 0.400 | moderate | 1.000 | 1 | 0 | 2017 | 2017 | ||||||||
|
actin like 6B | 0.656 | 0.462 | 2.8E-04 |
|
phenotype | 0.400 | strong | 1.000 | 1 | 0 | 2019 | 2019 | ||||||||
|
phosphatidylinositol glycan anchor biosynthesis class P | 0.633 | 0.462 | 1.9E-03 |
|
phenotype | 0.400 | moderate | 1.000 | 1 | 0 | 2019 | 2019 | ||||||||
|
potassium two pore domain channel subfamily K member 4 | 0.743 | 0.385 | 5.7E-03 |
|
phenotype | 0.400 | None | 1.000 | 1 | 0 | 2018 | 2018 | ||||||||
|
ribonucleotide reductase regulatory TP53 inducible subunit M2B | 0.527 | 0.769 | 2.4E-03 |
|
phenotype | 0.400 | moderate | 1.000 | 1 | 0 | 2007 | 2007 | ||||||||
|
mannose-P-dolichol utilization defect 1 | 0.682 | 0.500 | 1.0E-05 |
|
phenotype | 0.400 | strong | 1.000 | 1 | 0 | 2001 | 2001 | ||||||||
|
GTP cyclohydrolase 1 | 0.511 | 0.846 | 0.90 |
|
phenotype | 0.400 | moderate | 1.000 | 1 | 0 | 2008 | 2008 | ||||||||
|
PET100 cytochrome c oxidase chaperone | 0.650 | 0.577 | 3.6E-04 |
|
phenotype | 0.400 | strong | 1.000 | 1 | 0 | 2013 | 2013 | ||||||||
|
zinc finger protein 292 | 0.695 | 0.423 | 1.00 |
|
phenotype | 0.400 | moderate | 1.000 | 1 | 0 | 2018 | 2018 | ||||||||
|
fukutin | 0.511 | 0.692 | 8.7E-07 |
|
phenotype | 0.400 | strong | 1.000 | 1 | 0 | 2011 | 2011 | ||||||||
|
phosphatase and actin regulator 1 | 0.663 | 0.423 | 0.64 |
|
phenotype | 0.400 | strong | 1.000 | 1 | 0 | 2017 | 2017 | ||||||||
|
fucose kinase | 0.769 | 0.192 | 1.0E-29 |
|
phenotype | 0.400 | moderate | 1.000 | 1 | 0 | 2018 | 2018 | ||||||||
|
atrophin 1 | 0.409 | 0.885 | 1.00 |
|
phenotype | 0.400 | strong | 1.000 | 1 | 0 | 2019 | 2019 |