| 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. | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
dihydrolipoamide branched chain transacylase E2 | 0.638 | 0.462 | 1.0E-05 |
|
phenotype | 0.400 | strong | 1.000 | 0 | 0 | 2019 | 2019 | ||||||||
|
deoxyhypusine synthase | 0.670 | 0.538 | 1.6E-04 |
|
phenotype | 0.400 | strong | 1.000 | 0 | 0 | 2012 | 2012 | ||||||||
|
atrophin 1 | 0.409 | 0.885 | 1.00 |
|
phenotype | 0.400 | strong | 1.000 | 0 | 0 | 2019 | 2019 | ||||||||
|
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 | ||||||||
|
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 | ||||||||
|
guanidinoacetate N-methyltransferase | 0.691 | 0.269 | 9.5E-03 |
|
phenotype | 0.600 | strong | 1.000 | 0 | 0 | 2005 | 2014 | ||||||||
|
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 | ||||||||
|
glial fibrillary acidic protein | 0.421 | 0.885 | 1.5E-06 |
|
phenotype | 0.460 | strong | 1.000 | 0 | 1 | 2006 | 2019 | ||||||||
|
glycine decarboxylase | 0.628 | 0.577 | 6.6E-28 |
|
phenotype | 0.400 | strong | 1.000 | 0 | 0 | 2004 | 2004 | ||||||||
|
glutamate-ammonia ligase | 0.513 | 0.731 | 1.00 |
|
phenotype | 0.430 | strong | 1.000 | 0 | 0 | 2001 | 2019 | ||||||||
|
GM2 ganglioside activator | 0.678 | 0.692 | 3.1E-02 |
|
phenotype | 0.400 | strong | 1.000 | 0 | 0 | 2015 | 2015 | ||||||||
|
amyloid beta precursor protein | 0.422 | 0.846 | 4.7E-02 |
|
phenotype | 0.500 | strong | 1.000 | 0 | 0 | 2009 | 2019 | ||||||||
|
methylenetetrahydrofolate reductase | 0.337 | 0.885 | 3.2E-10 |
|
phenotype | 0.440 | strong | 1.000 | 0 | 0 | 1998 | 2020 | ||||||||
|
alpha-N-acetylgalactosaminidase | 0.647 | 0.538 | 1.8E-11 |
|
phenotype | 0.400 | strong | 1.000 | 0 | 0 | 1996 | 1996 | ||||||||
|
notch receptor 3 | 0.435 | 0.808 | 0.41 |
|
phenotype | 0.410 | strong | 1.000 | 0 | 0 | 2009 | 2018 | ||||||||
|
prolyl 4-hydroxylase, transmembrane | 0.666 | 0.500 | 3.9E-09 |
|
phenotype | 0.400 | strong | 1.000 | 0 | 0 | 2014 | 2019 | ||||||||
|
protein phosphatase 2 catalytic subunit alpha | 0.608 | 0.769 | 0.99 |
|
phenotype | 0.400 | strong | 1.000 | 0 | 0 | 2019 | 2019 |