| 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. | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
atrophin 1 | 0.409 | 0.885 | 1.00 |
|
phenotype | 0.400 | strong | 1.000 | 0 | 0 | 2019 | 2019 | ||||||||
|
fucose kinase | 0.769 | 0.192 | 1.0E-29 |
|
phenotype | 0.400 | moderate | 1.000 | 0 | 0 | 2018 | 2018 | ||||||||
|
aminolevulinate dehydratase | 0.556 | 0.615 | 5.6E-05 |
|
phenotype | 0.400 | None | 1.000 | 0 | 0 | 2010 | 2010 | ||||||||
|
phosphatase and actin regulator 1 | 0.663 | 0.423 | 0.64 |
|
phenotype | 0.400 | strong | 1.000 | 0 | 0 | 2017 | 2017 | ||||||||
|
fukutin | 0.511 | 0.692 | 8.7E-07 |
|
phenotype | 0.400 | strong | 1.000 | 0 | 0 | 2011 | 2011 | ||||||||
|
zinc finger protein 292 | 0.695 | 0.423 | 1.00 |
|
phenotype | 0.400 | moderate | 1.000 | 0 | 1 | 2018 | 2018 | ||||||||
|
Rho related BTB domain containing 2 | 0.631 | 0.615 | 1.3E-02 |
|
phenotype | 0.400 | strong | 1.000 | 0 | 1 | 2016 | 2016 | ||||||||
|
phosphofurin acidic cluster sorting protein 2 | 0.700 | 0.423 | 1.00 |
|
phenotype | 0.400 | strong | 1.000 | 0 | 0 | 2017 | 2017 | ||||||||
|
folate receptor alpha | 0.522 | 0.885 | 0.13 |
|
phenotype | 0.400 | strong | 1.000 | 0 | 0 | 2015 | 2015 | ||||||||
|
microtubule actin crosslinking factor 1 | 0.659 | 0.538 | 1.00 |
|
phenotype | 0.400 | strong | 1.000 | 0 | 0 | 2006 | 2018 | ||||||||
|
alpha-L-fucosidase 1 | 0.623 | 0.577 | 2.7E-08 |
|
phenotype | 0.400 | strong | 1.000 | 0 | 0 | 1993 | 1993 | ||||||||
|
fucosyltransferase 8 | 0.603 | 0.692 | 9.9E-03 |
|
phenotype | 0.400 | strong | 1.000 | 0 | 0 | 2018 | 2018 | ||||||||
|
galactosylceramidase | 0.604 | 0.615 | 5.2E-15 |
|
phenotype | 0.400 | strong | 1.000 | 0 | 2 | 2010 | 2010 | ||||||||
|
SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 | 0.547 | 0.769 | 6.5E-13 |
|
phenotype | 0.400 | strong | 1.000 | 0 | 0 | 2018 | 2018 | ||||||||
|
glucosylceramidase beta | 0.500 | 0.808 | 1.4E-06 |
|
phenotype | 0.400 | strong | 1.000 | 0 | 0 | 1997 | 1997 | ||||||||
|
GTP cyclohydrolase 1 | 0.511 | 0.846 | 0.90 |
|
phenotype | 0.400 | moderate | 1.000 | 0 | 0 | 2008 | 2008 | ||||||||
|
glycine decarboxylase | 0.628 | 0.577 | 6.6E-28 |
|
phenotype | 0.400 | strong | 1.000 | 0 | 0 | 2004 | 2004 | ||||||||
|
GM2 ganglioside activator | 0.678 | 0.692 | 3.1E-02 |
|
phenotype | 0.400 | strong | 1.000 | 0 | 0 | 2015 | 2015 | ||||||||
|
insulin | 0.445 | 0.923 | 0.30 |
|
phenotype | 0.400 | None | 1.000 | 0 | 0 | 1972 | 2003 | ||||||||
|
acetyl-CoA acetyltransferase 1 | 0.538 | 0.692 | 9.9E-08 |
|
phenotype | 0.400 | None | 1.000 | 0 | 0 | 2013 | 2013 | ||||||||
|
AF4/FMR2 family member 3 | 0.623 | 0.692 | 1.00 |
|
phenotype | 0.400 | None | 1.000 | 0 | 1 | 2008 | 2008 | ||||||||
|
5-methyltetrahydrofolate-homocysteine methyltransferase | 0.482 | 0.808 | 2.4E-12 |
|
phenotype | 0.400 | moderate | 1.000 | 0 | 0 | 2017 | 2017 | ||||||||
|
alpha-N-acetylgalactosaminidase | 0.647 | 0.538 | 1.8E-11 |
|
phenotype | 0.400 | strong | 1.000 | 0 | 0 | 1996 | 1996 | ||||||||
|
ribonucleotide reductase regulatory TP53 inducible subunit M2B | 0.527 | 0.769 | 2.4E-03 |
|
phenotype | 0.400 | moderate | 1.000 | 0 | 0 | 2007 | 2007 | ||||||||
|
potassium two pore domain channel subfamily K member 4 | 0.743 | 0.385 | 5.7E-03 |
|
phenotype | 0.400 | None | 1.000 | 0 | 2 | 2018 | 2018 |