| 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. | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
adaptor related protein complex 1 subunit sigma 2 | 0.631 | 0.615 | 0.87 |
|
phenotype | 0.300 | None | 1.000 | 2 | 0 | 2008 | 2014 | ||||||||
|
dopa decarboxylase | 0.535 | 0.769 | 3.8E-08 |
|
phenotype | 0.300 | None | 1.000 | 2 | 0 | 2009 | 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 | ||||||||
|
L-2-hydroxyglutarate dehydrogenase | 0.653 | 0.462 | 4.2E-05 |
|
phenotype | 0.300 | limited | 1.000 | 1 | 0 | 2008 | 2008 | ||||||||
|
dihydrolipoamide S-acetyltransferase | 0.576 | 0.731 | 2.3E-08 |
|
phenotype | 0.300 | None | 1.000 | 1 | 0 | 2009 | 2009 | ||||||||
|
ERCC excision repair 6, chromatin remodeling factor | 0.507 | 0.808 | 5.2E-22 |
|
phenotype | 0.300 | limited | 1.000 | 1 | 0 | 2008 | 2008 | ||||||||
|
VPS37A subunit of ESCRT-I | 0.656 | 0.577 | 6.8E-04 |
|
phenotype | 0.300 | limited | 1.000 | 1 | 0 | 2012 | 2012 | ||||||||
|
FAST kinase domains 2 | 0.659 | 0.731 | 2.9E-06 |
|
phenotype | 0.300 | limited | 0 | 0 | |||||||||||
|
major histocompatibility complex, class I-related | 0.716 | 0.346 | 4.9E-18 |
|
phenotype | 0.300 | limited | 0 | 0 | |||||||||||
|
solute carrier family 46 member 1 | 0.606 | 0.731 | 2.2E-02 |
|
phenotype | 0.300 | limited | 0 | 0 | |||||||||||
|
sulfite oxidase | 0.638 | 0.615 | 9.4E-07 |
|
phenotype | 0.300 | limited | 0 | 0 | |||||||||||
|
phosphatase and tensin homolog | 0.305 | 0.923 | 0.26 |
|
phenotype | 0.300 | limited | 0 | 0 | |||||||||||
|
ceruloplasmin | 0.466 | 0.846 | 4.2E-10 |
|
phenotype | 0.310 | None | 1.000 | 1 | 0 | 1987 | 2006 | ||||||||
|
ATPase Na+/K+ transporting subunit alpha 2 | 0.597 | 0.615 | 1.8E-04 |
|
phenotype | 0.400 | None | 1.000 | 2 | 0 | 2003 | 2003 | ||||||||
|
quinoid dihydropteridine reductase | 0.691 | 0.500 | 1.5E-04 |
|
phenotype | 0.400 | None | 1.000 | 2 | 0 | 1998 | 2000 | ||||||||
|
platelet derived growth factor receptor beta | 0.416 | 0.846 | 0.90 |
|
phenotype | 0.400 | None | 1.000 | 2 | 0 | 2014 | 2015 | ||||||||
|
6-pyruvoyltetrahydropterin synthase | 0.636 | 0.654 | 6.5E-06 |
|
phenotype | 0.400 | None | 1.000 | 2 | 0 | 2016 | 2016 | ||||||||
|
proteolipid protein 1 | 0.543 | 0.769 | 0.93 |
|
phenotype | 0.400 | None | 1.000 | 1 | 0 | 2000 | 2000 | ||||||||
|
mucolipin 1 | 0.601 | 0.654 | 5.8E-04 |
|
phenotype | 0.400 | limited | 1.000 | 1 | 0 | 2018 | 2018 | ||||||||
|
myogenesis regulating glycosidase (putative) | 0.805 | 0.269 | 1.1E-11 |
|
phenotype | 0.400 | strong | 1.000 | 1 | 0 | 2019 | 2019 | ||||||||
|
AU RNA binding methylglutaconyl-CoA hydratase | 0.686 | 0.346 | 8.0E-06 |
|
phenotype | 0.400 | None | 1.000 | 1 | 0 | 2010 | 2010 | ||||||||
|
hypoxanthine phosphoribosyltransferase 1 | 0.500 | 0.808 | 0.94 |
|
phenotype | 0.400 | limited | 1.000 | 1 | 0 | 2010 | 2010 | ||||||||
|
ribonuclease H2 subunit B | 0.595 | 0.615 | 3.3E-09 |
|
phenotype | 0.400 | limited | 1.000 | 1 | 0 | 2006 | 2006 | ||||||||
|
thiamin pyrophosphokinase 1 | 0.792 | 0.269 | 9.1E-02 |
|
phenotype | 0.400 | limited | 1.000 | 1 | 0 | 2017 | 2017 | ||||||||
|
methionine adenosyltransferase 1A | 0.582 | 0.577 | 8.1E-04 |
|
phenotype | 0.400 | limited | 1.000 | 1 | 0 | 2015 | 2015 |