| 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. | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
phenylalanine hydroxylase | 0.516 | 0.769 | 6.4E-23 |
|
group | 0.800 | None | 0.985 | 343 | 45 | 1977 | 2020 | ||||||||
|
quinoid dihydropteridine reductase | 0.691 | 0.500 | 1.5E-04 |
|
group | 0.350 | None | 1.000 | 6 | 0 | 1975 | 2015 | ||||||||
|
glucose-6-phosphate dehydrogenase | 0.424 | 0.846 | 0.97 |
|
group | 0.210 | None | 1.000 | 2 | 0 | 2014 | 2016 | ||||||||
|
catalase | 0.359 | 0.962 | 1.6E-10 |
|
group | 0.210 | None | 1.000 | 2 | 0 | 2013 | 2018 | ||||||||
|
HNF1 homeobox A | 0.478 | 0.846 | 0.96 |
|
group | 0.200 | None | 1.000 | 2 | 0 | 1996 | 1998 | ||||||||
|
neurofilament heavy | 0.588 | 0.769 | 2.7E-12 |
|
group | 0.200 | None | 1.000 | 1 | 0 | 1993 | 1993 | ||||||||
|
leucine rich repeat, Ig-like and transmembrane domains 1 | 0.641 | 0.615 | 4.6E-15 |
|
group | 0.030 | None | 1.000 | 3 | 0 | 2017 | 2018 | ||||||||
|
6-pyruvoyltetrahydropterin synthase | 0.636 | 0.654 | 6.5E-06 |
|
group | 0.030 | None | 1.000 | 3 | 0 | 1992 | 2014 | ||||||||
|
SHC binding and spindle associated 1 | 0.606 | 0.654 | 9.4E-08 |
|
group | 0.030 | None | 1.000 | 3 | 0 | 2017 | 2018 | ||||||||
|
peptidylglycine alpha-amidating monooxygenase | 0.542 | 0.692 | 6.9E-06 |
|
group | 0.030 | None | 1.000 | 3 | 0 | 2017 | 2018 | ||||||||
|
GTP cyclohydrolase 1 | 0.511 | 0.846 | 0.90 |
|
group | 0.020 | None | 1.000 | 2 | 0 | 2002 | 2014 | ||||||||
|
sepiapterin reductase | 0.631 | 0.654 | 4.3E-02 |
|
group | 0.020 | None | < 0.001 | 2 | 0 | 2001 | 2001 | ||||||||
|
calcium voltage-gated channel subunit alpha1 A | 0.489 | 0.769 | 1.00 |
|
group | 0.020 | None | 1.000 | 2 | 0 | 1999 | 2005 | ||||||||
|
PR/SET domain 6 | 0.638 | 0.692 | 0.61 |
|
group | 0.020 | None | 1.000 | 2 | 0 | 2018 | 2018 | ||||||||
|
tyrosine hydroxylase | 0.462 | 0.885 | 1.7E-06 |
|
group | 0.020 | None | 1.000 | 2 | 0 | 2007 | 2017 | ||||||||
|
transthyretin | 0.423 | 0.885 | 0.52 |
|
group | 0.020 | None | 1.000 | 2 | 0 | 2010 | 2019 | ||||||||
|
dystrophin | 0.423 | 0.923 | 1.00 |
|
group | 0.020 | None | 1.000 | 2 | 0 | 2003 | 2020 | ||||||||
|
linker for activation of T cells | 0.548 | 0.731 | 9.2E-03 |
|
group | 0.020 | None | 1.000 | 2 | 0 | 2005 | 2006 | ||||||||
|
myelin basic protein | 0.510 | 0.885 | 0.28 |
|
group | 0.020 | None | 1.000 | 2 | 0 | 2005 | 2018 | ||||||||
|
solute carrier family 7 member 5 | 0.513 | 0.808 | 0.24 |
|
group | 0.020 | None | 1.000 | 2 | 0 | 2005 | 2006 | ||||||||
|
pellino E3 ubiquitin protein ligase 1 | 0.603 | 0.731 | 0.39 |
|
group | 0.020 | None | 1.000 | 2 | 0 | 2018 | 2018 | ||||||||
|
parathyroid hormone | 0.397 | 0.846 | 1.2E-02 |
|
group | 0.010 | None | 1.000 | 1 | 0 | 2018 | 2018 | ||||||||
|
mitogen-activated protein kinase 1 | 0.330 | 0.923 | 1.00 |
|
group | 0.010 | None | 1.000 | 1 | 0 | 2010 | 2010 | ||||||||
|
solute carrier family 38 member 7 | 0.760 | 0.346 | 2.9E-05 |
|
group | 0.010 | None | 1.000 | 1 | 0 | 2000 | 2000 | ||||||||
|
pterin-4 alpha-carbinolamine dehydratase 1 | 0.623 | 0.769 | 3.3E-04 |
|
group | 0.010 | None | 1.000 | 1 | 0 | 2014 | 2014 |