| 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. | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
5-methyltetrahydrofolate-homocysteine methyltransferase | 0.482 | 0.808 | 2.4E-12 |
|
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 | ||||||||
|
adaptor related protein complex 2 subunit mu 1 | 0.751 | 0.231 | 1.00 |
|
phenotype | 0.300 | strong | 1.000 | 1 | 0 | 2019 | 2019 | ||||||||
|
adaptor related protein complex 3 subunit delta 1 | 0.678 | 0.385 | 0.99 |
|
phenotype | 0.300 | limited | 1.000 | 1 | 0 | 2016 | 2016 | ||||||||
|
adaptor related protein complex 4 subunit sigma 1 | 0.674 | 0.385 | 1.7E-06 |
|
phenotype | 0.410 | None | 1.000 | 1 | 0 | 2015 | 2015 | ||||||||
|
ADP-ribosylserine hydrolase | 0.743 | 0.308 | 5.8E-04 |
|
phenotype | 0.300 | moderate | 1.000 | 1 | 0 | 2018 | 2018 | ||||||||
|
AF4/FMR2 family member 3 | 0.623 | 0.692 | 1.00 |
|
phenotype | 0.400 | None | 1.000 | 1 | 0 | 2008 | 2008 | ||||||||
|
alkB homolog 8, tRNA methyltransferase | 0.716 | 0.423 | 2.0E-04 |
|
phenotype | 0.400 | None | 1.000 | 1 | 0 | 2019 | 2019 | ||||||||
|
alpha-L-fucosidase 1 | 0.623 | 0.577 | 2.7E-08 |
|
phenotype | 0.400 | strong | 1.000 | 1 | 0 | 1993 | 1993 | ||||||||
|
alpha-N-acetylgalactosaminidase | 0.647 | 0.538 | 1.8E-11 |
|
phenotype | 0.400 | strong | 1.000 | 1 | 0 | 1996 | 1996 | ||||||||
|
amyloid beta precursor protein | 0.422 | 0.846 | 4.7E-02 |
|
phenotype | 0.500 | strong | 1.000 | 1 | 0 | 2009 | 2019 | ||||||||
|
APC regulator of WNT signaling pathway 2 | 0.582 | 0.654 | 1.00 |
|
phenotype | 0.400 | strong | 1.000 | 1 | 0 | 2012 | 2012 | ||||||||
|
arginyl-tRNA synthetase 1 | 0.604 | 0.538 | 3.3E-08 |
|
phenotype | 0.300 | None | 1.000 | 1 | 0 | 2014 | 2014 | ||||||||
|
asparaginyl-tRNA synthetase 2, mitochondrial | 0.650 | 0.577 | 7.1E-08 |
|
phenotype | 0.310 | strong | 1.000 | 1 | 0 | 2015 | 2018 | ||||||||
|
ATPase Na+/K+ transporting subunit alpha 1 | 0.601 | 0.808 | 1.00 |
|
phenotype | 0.310 | strong | 1.000 | 1 | 0 | 2018 | 2020 | ||||||||
|
atrophin 1 | 0.409 | 0.885 | 1.00 |
|
phenotype | 0.400 | strong | 1.000 | 1 | 0 | 2019 | 2019 | ||||||||
|
calcium voltage-gated channel subunit alpha1 B | 0.650 | 0.577 | 1.00 |
|
phenotype | 0.400 | strong | 1.000 | 2 | 0 | 2015 | 2019 | ||||||||
|
calcium voltage-gated channel subunit alpha1 E | 0.650 | 0.577 | 1.00 |
|
phenotype | 0.300 | strong | 1.000 | 1 | 0 | 2018 | 2018 | ||||||||
|
casein kinase 2 alpha 1 | 0.597 | 0.731 | 0.99 |
|
phenotype | 0.310 | limited | 1.000 | 1 | 0 | 2016 | 2019 | ||||||||
|
caseinolytic mitochondrial matrix peptidase chaperone subunit B | 0.631 | 0.654 | 5.0E-04 |
|
phenotype | 0.400 | moderate | 1.000 | 1 | 0 | 2015 | 2015 | ||||||||
|
collagen type IV alpha 1 chain | 0.484 | 0.731 | 1.00 |
|
phenotype | 0.400 | strong | 1.000 | 1 | 0 | 2007 | 2007 | ||||||||
|
cullin 4B | 0.556 | 0.769 | 1.00 |
|
phenotype | 0.410 | strong | 1.000 | 1 | 0 | 2012 | 2018 | ||||||||
|
cut like homeobox 2 | 0.644 | 0.500 | 1.00 |
|
phenotype | 0.300 | strong | 1.000 | 1 | 0 | 2013 | 2013 | ||||||||
|
cyclin dependent kinase 8 | 0.597 | 0.654 | 0.41 |
|
phenotype | 0.300 | strong | 1.000 | 1 | 0 | 2019 | 2019 | ||||||||
|
cytochrome P450 family 27 subfamily A member 1 | 0.538 | 0.731 | 5.3E-19 |
|
phenotype | 0.400 | moderate | 1.000 | 1 | 0 | 1991 | 1991 |