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. | ||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
cytochrome P450 family 27 subfamily A member 1 | 0.538 | 0.731 | 5.3E-19 |
|
group | 0.030 | None | 1.000 | 3 | 0 | 1992 | 1994 | ||||||||
|
thyroglobulin | 0.480 | 0.808 | 2.9E-59 |
|
group | 0.030 | None | 1.000 | 3 | 0 | 1996 | 2009 | ||||||||
|
NPC intracellular cholesterol transporter 1 | 0.518 | 0.692 | 6.5E-06 |
|
group | 0.020 | None | 1.000 | 2 | 0 | 2004 | 2008 | ||||||||
|
aspartylglucosaminidase | 0.570 | 0.808 | 4.3E-06 |
|
group | 0.020 | None | 1.000 | 2 | 0 | 1993 | 1994 | ||||||||
|
galactosidase alpha | 0.537 | 0.769 | 1.00 |
|
group | 0.020 | None | 1.000 | 2 | 0 | 2010 | 2012 | ||||||||
|
O-GlcNAcase | 0.534 | 0.731 | 0.97 |
|
group | 0.010 | None | 1.000 | 1 | 0 | 2009 | 2009 | ||||||||
|
glucosylceramidase beta 2 | 0.636 | 0.654 | 2.0E-20 |
|
group | 0.010 | None | 1.000 | 1 | 0 | 2013 | 2013 | ||||||||
|
presenilin 1 | 0.469 | 0.846 | 0.97 |
|
group | 0.010 | None | 1.000 | 1 | 0 | 2007 | 2007 | ||||||||
|
prion protein | 0.445 | 0.923 | 6.3E-04 |
|
group | 0.010 | None | 1.000 | 1 | 0 | 1997 | 1997 | ||||||||
|
ATP binding cassette subfamily G member 5 | 0.592 | 0.577 | 3.1E-21 |
|
group | 0.010 | None | 1.000 | 1 | 0 | 2010 | 2010 | ||||||||
|
ATP binding cassette subfamily G member 8 | 0.573 | 0.538 | 2.4E-20 |
|
group | 0.010 | None | 1.000 | 1 | 0 | 2015 | 2015 | ||||||||
|
sucrase-isomaltase | 0.569 | 0.692 | 3.9E-60 |
|
group | 0.010 | None | 1.000 | 1 | 0 | 2017 | 2017 | ||||||||
|
transthyretin | 0.423 | 0.885 | 0.52 |
|
group | 0.010 | None | 1.000 | 1 | 0 | 1989 | 1989 | ||||||||
|
uromodulin | 0.520 | 0.846 | 3.1E-17 |
|
group | 0.010 | None | 1.000 | 1 | 0 | 2019 | 2019 | ||||||||
|
maltase-glucoamylase | 0.592 | 0.615 | 1.0E-35 |
|
group | 0.010 | None | 1.000 | 1 | 0 | 2017 | 2017 | ||||||||
|
cathepsin A | 0.619 | 0.731 | 5.9E-09 |
|
group | 0.010 | None | 1.000 | 1 | 0 | 2010 | 2010 | ||||||||
|
protein kinase AMP-activated non-catalytic subunit gamma 3 | 0.792 | 0.308 | 4.6E-12 |
|
group | 0.010 | None | < 0.001 | 1 | 0 | 2003 | 2003 | ||||||||
|
CLN3 lysosomal/endosomal transmembrane protein, battenin | 0.572 | 0.692 | 1.3E-07 |
|
group | 0.010 | None | 1.000 | 1 | 0 | 1999 | 1999 | ||||||||
|
mannosidase endo-alpha like | 4.9E-03 |
|
group | 0.010 | None | 1.000 | 1 | 0 | 2017 | 2017 | ||||||||||
|
fibrinogen gamma chain | 0.633 | 0.615 | 5.0E-02 |
|
group | 0.010 | None | 1.000 | 1 | 1 | 2015 | 2015 | ||||||||
|
glucosamine (N-acetyl)-6-sulfatase | 0.705 | 0.538 | 5.6E-04 |
|
group | 0.010 | None | 1.000 | 1 | 0 | 2017 | 2017 | ||||||||
|
glucuronidase beta | 0.530 | 0.846 | 4.0E-08 |
|
group | 0.010 | None | 1.000 | 1 | 0 | 1990 | 1990 | ||||||||
|
hexosaminidase subunit beta | 0.644 | 0.654 | 3.5E-10 |
|
group | 0.010 | None | 1.000 | 1 | 0 | 2009 | 2009 | ||||||||
|
alpha-L-iduronidase | 0.499 | 0.846 | 3.8E-13 |
|
group | 0.010 | None | 1.000 | 1 | 0 | 2011 | 2011 | ||||||||
|
lipase A, lysosomal acid type | 0.564 | 0.654 | 5.5E-07 |
|
group | 0.010 | None | 1.000 | 1 | 0 | 2013 | 2013 |