| 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. | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
phosphatase and tensin homolog | 0.305 | 0.923 | 0.26 |
|
phenotype | 0.300 | limited | 0 | 0 | |||||||||||
|
ATM serine/threonine kinase | 0.374 | 0.885 | 5.6E-47 |
|
phenotype | 0.420 | None | 0.500 | 0 | 0 | 2012 | 2015 | ||||||||
|
solute carrier family 2 member 1 | 0.388 | 0.808 | 0.99 |
|
phenotype | 0.450 | None | 1.000 | 3 | 0 | 2000 | 2018 | ||||||||
|
platelet derived growth factor receptor beta | 0.416 | 0.846 | 0.90 |
|
phenotype | 0.400 | None | 1.000 | 2 | 0 | 2014 | 2015 | ||||||||
|
parkin RBR E3 ubiquitin protein ligase | 0.431 | 0.846 | 6.9E-07 |
|
phenotype | 0.490 | strong | 1.000 | 2 | 0 | 1998 | 2020 | ||||||||
|
arylsulfatase A | 0.448 | 0.923 | 1.1E-11 |
|
phenotype | 0.400 | None | 0 | 0 | |||||||||||
|
ceruloplasmin | 0.466 | 0.846 | 4.2E-10 |
|
phenotype | 0.310 | None | 1.000 | 1 | 0 | 1987 | 2006 | ||||||||
|
presenilin 1 | 0.469 | 0.846 | 0.97 |
|
phenotype | 0.410 | None | 1.000 | 2 | 0 | 2012 | 2017 | ||||||||
|
calcium voltage-gated channel subunit alpha1 A | 0.489 | 0.769 | 1.00 |
|
phenotype | 0.480 | None | 1.000 | 1 | 0 | 1999 | 2020 | ||||||||
|
hypoxanthine phosphoribosyltransferase 1 | 0.500 | 0.808 | 0.94 |
|
phenotype | 0.400 | limited | 1.000 | 1 | 0 | 2010 | 2010 | ||||||||
|
adenosine deaminase RNA specific | 0.501 | 0.808 | 2.6E-02 |
|
phenotype | 0.440 | None | 1.000 | 3 | 0 | 2006 | 2016 | ||||||||
|
ERCC excision repair 6, chromatin remodeling factor | 0.507 | 0.808 | 5.2E-22 |
|
phenotype | 0.300 | limited | 1.000 | 1 | 0 | 2008 | 2008 | ||||||||
|
GTP cyclohydrolase 1 | 0.511 | 0.846 | 0.90 |
|
phenotype | 0.700 | None | 0.982 | 1 | 0 | 1991 | 2019 | ||||||||
|
aristaless related homeobox | 0.516 | 0.654 | 0.91 |
|
phenotype | 0.460 | None | 1.000 | 2 | 0 | 2002 | 2015 | ||||||||
|
PTEN induced kinase 1 | 0.516 | 0.769 | 1.9E-10 |
|
phenotype | 0.420 | strong | 1.000 | 1 | 0 | 2004 | 2015 | ||||||||
|
three prime repair exonuclease 1 | 0.517 | 0.808 | 0.58 |
|
phenotype | 0.400 | limited | 1.000 | 1 | 0 | 2014 | 2014 | ||||||||
|
triggering receptor expressed on myeloid cells 2 | 0.519 | 0.769 | 3.3E-09 |
|
phenotype | 0.300 | None | 1.000 | 2 | 0 | 2005 | 2016 | ||||||||
|
forkhead box G1 | 0.522 | 0.692 | 0.94 |
|
phenotype | 0.400 | None | 1.000 | 1 | 0 | 2017 | 2017 | ||||||||
|
dopa decarboxylase | 0.535 | 0.769 | 3.8E-08 |
|
phenotype | 0.300 | None | 1.000 | 2 | 0 | 2009 | 2014 | ||||||||
|
potassium voltage-gated channel subfamily Q member 2 | 0.537 | 0.654 | 1.00 |
|
phenotype | 0.400 | None | 0 | 0 | |||||||||||
|
cytochrome P450 family 27 subfamily A member 1 | 0.538 | 0.731 | 5.3E-19 |
|
phenotype | 0.400 | strong | 1.000 | 1 | 0 | 2018 | 2018 | ||||||||
|
charged multivesicular body protein 2B | 0.543 | 0.731 | 4.6E-06 |
|
phenotype | 0.400 | None | 1.000 | 1 | 0 | 2008 | 2008 | ||||||||
|
proteolipid protein 1 | 0.543 | 0.769 | 0.93 |
|
phenotype | 0.400 | None | 1.000 | 1 | 0 | 2000 | 2000 | ||||||||
|
SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 | 0.547 | 0.769 | 6.5E-13 |
|
phenotype | 0.400 | limited | 1.000 | 1 | 0 | 2010 | 2010 | ||||||||
|
pantothenate kinase 2 | 0.559 | 0.808 | 7.4E-07 |
|
phenotype | 0.500 | strong | 1.000 | 1 | 0 | 2001 | 2019 |