| 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. | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
methyl-CpG binding protein 2 | 0.414 | 0.846 | 0.89 |
|
disease | 0.140 | None | 1.000 | 4 | 1 | 2012 | 2012 | ||||||||
|
sodium leak channel, non-selective | 0.587 | 0.615 | 8.5E-14 |
|
disease | 0.050 | None | 1.000 | 5 | 0 | 2016 | 2019 | ||||||||
|
unc-80 homolog, NALCN channel complex subunit | 0.626 | 0.462 | 5.2E-02 |
|
disease | 0.040 | None | 1.000 | 4 | 3 | 2018 | 2019 | ||||||||
|
ryanodine receptor 1 | 0.489 | 0.808 | 1.6E-29 |
|
disease | 0.020 | None | 1.000 | 2 | 0 | 2009 | 2019 | ||||||||
|
myotubularin 1 | 0.573 | 0.731 | 1.00 |
|
disease | 0.020 | None | 1.000 | 2 | 0 | 2010 | 2014 | ||||||||
|
TBC1 domain containing kinase | 0.650 | 0.654 | 2.1E-15 |
|
disease | 0.020 | None | 1.000 | 2 | 1 | 2018 | 2019 | ||||||||
|
prolyl endopeptidase like | 0.644 | 0.538 | 2.2E-13 |
|
disease | 0.020 | None | 1.000 | 2 | 0 | 2011 | 2012 | ||||||||
|
peptide YY | 0.588 | 0.615 | 1.2E-02 |
|
disease | 0.010 | None | 1.000 | 1 | 0 | 2005 | 2005 | ||||||||
|
actin alpha 1, skeletal muscle | 0.540 | 0.769 | 1.1E-06 |
|
disease | 0.010 | None | 1.000 | 1 | 0 | 2015 | 2015 | ||||||||
|
spectrin beta, non-erythrocytic 4 | 0.686 | 0.462 | 1.00 |
|
disease | 0.010 | None | 1.000 | 1 | 0 | 2018 | 2018 | ||||||||
|
ribosomal protein S19 | 0.480 | 0.846 | 0.92 |
|
disease | 0.010 | None | 1.000 | 1 | 0 | 1999 | 1999 | ||||||||
|
Potocki-Lupski syndrome | 0.780 | 0.308 |
|
disease | 0.010 | None | 1.000 | 1 | 0 | 2014 | 2014 | |||||||||
|
solute carrier family 3 member 1 | 0.593 | 0.731 | 7.2E-27 |
|
disease | 0.010 | None | 1.000 | 1 | 0 | 2012 | 2012 | ||||||||
|
solute carrier family 16 member 2 | 0.592 | 0.577 | 0.99 |
|
disease | 0.010 | None | 1.000 | 1 | 0 | 2008 | 2008 | ||||||||
|
calcium voltage-gated channel subunit alpha1 A | 0.489 | 0.769 | 1.00 |
|
disease | 0.010 | None | 1.000 | 1 | 0 | 2016 | 2016 | ||||||||
|
contactin associated protein 1 | 0.554 | 0.577 | 3.4E-05 |
|
disease | 0.010 | None | 1.000 | 1 | 0 | 2017 | 2017 | ||||||||
|
myotubularin related protein 10 | 0.931 | 0.154 | 1.9E-07 |
|
disease | 0.010 | None | 1.000 | 1 | 0 | 2010 | 2010 | ||||||||
|
MAGE family member L2 | 0.560 | 0.654 | 0.98 |
|
disease | 0.010 | None | 1.000 | 1 | 0 | 2019 | 2019 | ||||||||
|
cytochrome c, somatic | 0.599 | 0.769 | 0.64 |
|
disease | 0.010 | None | 1.000 | 1 | 0 | 2013 | 2013 | ||||||||
|
cholinergic receptor nicotinic alpha 7 subunit | 0.532 | 0.654 | 4.2E-04 |
|
disease | 0.010 | None | 1.000 | 1 | 0 | 2010 | 2010 | ||||||||
|
chloride voltage-gated channel 4 | 0.587 | 0.654 | 1.00 |
|
disease | 0.010 | None | 1.000 | 1 | 0 | 1996 | 1996 | ||||||||
|
atrophin 1 | 0.409 | 0.885 | 1.00 |
|
disease | 0.010 | None | 1.000 | 1 | 0 | 2019 | 2019 | ||||||||
|
FANCD2 and FANCI associated nuclease 1 | 0.610 | 0.577 | 1.7E-25 |
|
disease | 0.010 | None | 1.000 | 1 | 0 | 2010 | 2010 | ||||||||
|
SH3 and cysteine rich domain 3 | 0.633 | 0.654 | 1.7E-04 |
|
disease | 0.010 | None | 1.000 | 1 | 1 | 2017 | 2017 | ||||||||
|
1,4-alpha-glucan branching enzyme 1 | 0.612 | 0.654 | 1.1E-12 |
|
disease | 0.010 | None | 1.000 | 1 | 0 | 2010 | 2010 |