| 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. | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
oxidation resistance 1 | 0.780 | 0.462 | 0.84 |
|
phenotype | 0.310 | None | 1.000 | 0 | 0 | 2019 | 2019 | ||||||||
|
tet methylcytosine dioxygenase 3 | 0.633 | 0.615 | 1.00 |
|
phenotype | 0.300 | None | 0 | 0 | |||||||||||
|
solute carrier family 2 member 1 | 0.388 | 0.808 | 0.99 |
|
phenotype | 0.700 | strong | 1.000 | 1 | 0 | 1998 | 2018 | ||||||||
|
tubulin folding cofactor D | 0.599 | 0.615 | 1.0E-07 |
|
phenotype | 0.610 | strong | 1.000 | 1 | 0 | 2016 | 2019 | ||||||||
|
guanidinoacetate N-methyltransferase | 0.691 | 0.269 | 9.5E-03 |
|
phenotype | 0.600 | strong | 1.000 | 1 | 0 | 2005 | 2014 | ||||||||
|
amyloid beta precursor protein | 0.422 | 0.846 | 4.7E-02 |
|
phenotype | 0.500 | strong | 1.000 | 1 | 0 | 2009 | 2019 | ||||||||
|
glial fibrillary acidic protein | 0.421 | 0.885 | 1.5E-06 |
|
phenotype | 0.460 | strong | 1.000 | 1 | 0 | 2006 | 2019 | ||||||||
|
methylenetetrahydrofolate reductase | 0.337 | 0.885 | 3.2E-10 |
|
phenotype | 0.440 | strong | 1.000 | 1 | 0 | 1998 | 2020 | ||||||||
|
glutamate-ammonia ligase | 0.513 | 0.731 | 1.00 |
|
phenotype | 0.430 | strong | 1.000 | 1 | 0 | 2001 | 2019 | ||||||||
|
structural maintenance of chromosomes 1A | 0.509 | 0.808 | 1.00 |
|
phenotype | 0.420 | strong | 1.000 | 1 | 0 | 2015 | 2019 | ||||||||
|
notch receptor 3 | 0.435 | 0.808 | 0.41 |
|
phenotype | 0.410 | strong | 1.000 | 1 | 0 | 2009 | 2018 | ||||||||
|
delta like canonical Notch ligand 1 | 0.492 | 0.808 | 1.00 |
|
phenotype | 0.410 | None | 1.000 | 1 | 0 | 2018 | 2019 | ||||||||
|
G protein subunit beta 1 | 0.617 | 0.731 | 1.00 |
|
phenotype | 0.410 | strong | 1.000 | 1 | 0 | 2015 | 2016 | ||||||||
|
cullin 4B | 0.556 | 0.769 | 1.00 |
|
phenotype | 0.410 | strong | 1.000 | 1 | 0 | 2012 | 2018 | ||||||||
|
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 | ||||||||
|
GM2 ganglioside activator | 0.678 | 0.692 | 3.1E-02 |
|
phenotype | 0.400 | strong | 1.000 | 1 | 0 | 2015 | 2015 | ||||||||
|
ribonucleotide reductase regulatory TP53 inducible subunit M2B | 0.527 | 0.769 | 2.4E-03 |
|
phenotype | 0.400 | moderate | 1.000 | 1 | 0 | 2007 | 2007 | ||||||||
|
neurobeachin | 0.760 | 0.538 | 1.00 |
|
phenotype | 0.400 | strong | 1.000 | 1 | 0 | 2013 | 2018 | ||||||||
|
alpha-N-acetylgalactosaminidase | 0.647 | 0.538 | 1.8E-11 |
|
phenotype | 0.400 | strong | 1.000 | 1 | 0 | 1996 | 1996 | ||||||||
|
5-methyltetrahydrofolate-homocysteine methyltransferase | 0.482 | 0.808 | 2.4E-12 |
|
phenotype | 0.400 | moderate | 1.000 | 1 | 0 | 2017 | 2017 | ||||||||
|
glucosylceramidase beta | 0.500 | 0.808 | 1.4E-06 |
|
phenotype | 0.400 | strong | 1.000 | 1 | 0 | 1997 | 1997 | ||||||||
|
GTP cyclohydrolase 1 | 0.511 | 0.846 | 0.90 |
|
phenotype | 0.400 | moderate | 1.000 | 1 | 0 | 2008 | 2008 | ||||||||
|
AF4/FMR2 family member 3 | 0.623 | 0.692 | 1.00 |
|
phenotype | 0.400 | None | 1.000 | 1 | 0 | 2008 | 2008 | ||||||||
|
glycine decarboxylase | 0.628 | 0.577 | 6.6E-28 |
|
phenotype | 0.400 | strong | 1.000 | 1 | 0 | 2004 | 2004 | ||||||||
|
TBC1 domain family member 20 | 0.621 | 0.500 | 0.93 |
|
phenotype | 0.400 | moderate | 1.000 | 1 | 0 | 2013 | 2013 |