| 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. | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
tet methylcytosine dioxygenase 3 | 0.633 | 0.615 | 1.00 |
|
phenotype | 0.300 | None | 0 | 0 | |||||||||||
|
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 | ||||||||
|
alpha-L-fucosidase 1 | 0.623 | 0.577 | 2.7E-08 |
|
phenotype | 0.400 | strong | 1.000 | 1 | 0 | 1993 | 1993 | ||||||||
|
hexosaminidase subunit beta | 0.644 | 0.654 | 3.5E-10 |
|
phenotype | 0.300 | strong | 1.000 | 1 | 0 | 1995 | 1995 | ||||||||
|
alpha-N-acetylgalactosaminidase | 0.647 | 0.538 | 1.8E-11 |
|
phenotype | 0.400 | strong | 1.000 | 1 | 0 | 1996 | 1996 | ||||||||
|
glucosylceramidase beta | 0.500 | 0.808 | 1.4E-06 |
|
phenotype | 0.400 | strong | 1.000 | 1 | 0 | 1997 | 1997 | ||||||||
|
methylenetetrahydrofolate reductase | 0.337 | 0.885 | 3.2E-10 |
|
phenotype | 0.440 | strong | 1.000 | 1 | 0 | 1998 | 2020 | ||||||||
|
solute carrier family 2 member 1 | 0.388 | 0.808 | 0.99 |
|
phenotype | 0.700 | strong | 1.000 | 1 | 0 | 1998 | 2018 | ||||||||
|
glutamate-ammonia ligase | 0.513 | 0.731 | 1.00 |
|
phenotype | 0.430 | strong | 1.000 | 1 | 0 | 2001 | 2019 | ||||||||
|
glutamate ionotropic receptor AMPA type subunit 2 | 0.573 | 0.692 | 1.00 |
|
phenotype | 0.360 | moderate | 1.000 | 1 | 0 | 2001 | 2019 | ||||||||
|
mannose-P-dolichol utilization defect 1 | 0.682 | 0.500 | 1.0E-05 |
|
phenotype | 0.400 | strong | 1.000 | 1 | 0 | 2001 | 2001 | ||||||||
|
fukutin related protein | 0.513 | 0.731 | 9.8E-06 |
|
phenotype | 0.400 | moderate | 1.000 | 1 | 0 | 2001 | 2001 | ||||||||
|
galactosidase beta 1 | 0.448 | 0.808 | 7.9E-10 |
|
phenotype | 0.310 | strong | 0.500 | 1 | 0 | 2003 | 2004 | ||||||||
|
glycine decarboxylase | 0.628 | 0.577 | 6.6E-28 |
|
phenotype | 0.400 | strong | 1.000 | 1 | 0 | 2004 | 2004 | ||||||||
|
fumarate hydratase | 0.489 | 0.846 | 8.8E-02 |
|
phenotype | 0.300 | moderate | 1.000 | 1 | 0 | 2005 | 2005 | ||||||||
|
guanidinoacetate N-methyltransferase | 0.691 | 0.269 | 9.5E-03 |
|
phenotype | 0.600 | strong | 1.000 | 1 | 0 | 2005 | 2014 | ||||||||
|
microtubule actin crosslinking factor 1 | 0.659 | 0.538 | 1.00 |
|
phenotype | 0.400 | strong | 1.000 | 2 | 0 | 2006 | 2018 | ||||||||
|
glial fibrillary acidic protein | 0.421 | 0.885 | 1.5E-06 |
|
phenotype | 0.460 | strong | 1.000 | 1 | 0 | 2006 | 2019 | ||||||||
|
collagen type IV alpha 1 chain | 0.484 | 0.731 | 1.00 |
|
phenotype | 0.400 | strong | 1.000 | 1 | 0 | 2007 | 2007 | ||||||||
|
ribonucleotide reductase regulatory TP53 inducible subunit M2B | 0.527 | 0.769 | 2.4E-03 |
|
phenotype | 0.400 | moderate | 1.000 | 1 | 0 | 2007 | 2007 | ||||||||
|
AF4/FMR2 family member 3 | 0.623 | 0.692 | 1.00 |
|
phenotype | 0.400 | None | 1.000 | 1 | 0 | 2008 | 2008 | ||||||||
|
GTP cyclohydrolase 1 | 0.511 | 0.846 | 0.90 |
|
phenotype | 0.400 | moderate | 1.000 | 1 | 0 | 2008 | 2008 | ||||||||
|
three prime repair exonuclease 1 | 0.517 | 0.808 | 0.58 |
|
phenotype | 0.400 | strong | 1.000 | 1 | 0 | 2008 | 2016 | ||||||||
|
amyloid beta precursor protein | 0.422 | 0.846 | 4.7E-02 |
|
phenotype | 0.500 | strong | 1.000 | 1 | 0 | 2009 | 2019 | ||||||||
|
notch receptor 3 | 0.435 | 0.808 | 0.41 |
|
phenotype | 0.410 | strong | 1.000 | 1 | 0 | 2009 | 2018 |