| 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. | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
palmitoyl-protein thioesterase 1 | 0.593 | 0.808 | 4.9E-05 |
|
group | 0.100 | None | 0 | 2 | |||||||||||
|
chromosome 11 open reading frame 65 | 0.670 | 0.462 | 2.0E-14 |
|
group | 0.100 | None | 0 | 1 | |||||||||||
|
ATM serine/threonine kinase | 0.374 | 0.885 | 5.6E-47 |
|
group | 0.100 | None | 0 | 1 | |||||||||||
|
synaptotagmin 1 | 0.412 | 0.846 | 0.60 |
|
group | 0.100 | None | 0 | 5 | |||||||||||
|
glucose-6-phosphate dehydrogenase | 0.424 | 0.846 | 0.97 |
|
group | 0.100 | None | 1.000 | 5 | 1 | 1981 | 2008 | ||||||||
|
BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone | 0.534 | 0.808 | 4.7E-13 |
|
group | 0.100 | None | 1.000 | 5 | 3 | 2001 | 2009 | ||||||||
|
senataxin | 0.570 | 0.731 | 0.95 |
|
group | 0.100 | None | 1.000 | 4 | 4 | 2004 | 2009 | ||||||||
|
gigaxonin | 0.674 | 0.500 | 2.5E-02 |
|
group | 0.100 | None | 1.000 | 4 | 2 | 1990 | 2009 | ||||||||
|
solute carrier family 26 member 2 | 0.553 | 0.692 | 7.5E-07 |
|
group | 0.100 | None | 1.000 | 6 | 1 | 1996 | 2010 | ||||||||
|
hexosaminidase subunit alpha | 0.633 | 0.615 | 1.3E-11 |
|
group | 0.100 | None | 1.000 | 11 | 2 | 1986 | 2011 | ||||||||
|
BRCA2 DNA repair associated | 0.379 | 0.846 | 2.4E-25 |
|
group | 0.100 | None | 1.000 | 10 | 1 | 1998 | 2011 | ||||||||
|
cyclin dependent kinase inhibitor 2A | 0.300 | 0.885 | 0.39 |
|
group | 0.100 | None | 1.000 | 8 | 1 | 2000 | 2011 | ||||||||
|
SH3 domain and tetratricopeptide repeats 2 | 0.666 | 0.385 | 8.3E-16 |
|
group | 0.100 | None | 1.000 | 4 | 1 | 1997 | 2011 | ||||||||
|
NPC intracellular cholesterol transporter 1 | 0.518 | 0.692 | 6.5E-06 |
|
group | 0.100 | None | 1.000 | 7 | 2 | 1997 | 2012 | ||||||||
|
7-dehydrocholesterol reductase | 0.500 | 0.846 | 3.9E-13 |
|
group | 0.100 | None | 1.000 | 16 | 1 | 1994 | 2013 | ||||||||
|
nucleotide binding protein like | 0.670 | 0.423 | 1.1E-05 |
|
group | 0.100 | None | 1.000 | 14 | 2 | 1999 | 2013 | ||||||||
|
ryanodine receptor 1 | 0.489 | 0.808 | 1.6E-29 |
|
group | 0.100 | None | 1.000 | 12 | 1 | 1973 | 2013 | ||||||||
|
B-Raf proto-oncogene, serine/threonine kinase | 0.319 | 0.846 | 1.00 |
|
group | 0.100 | None | 1.000 | 8 | 1 | 1968 | 2013 | ||||||||
|
FLG antisense RNA 1 | 0.700 | 0.538 |
|
group | 0.100 | None | 1.000 | 6 | 1 | 1966 | 2013 | |||||||||
|
filaggrin | 0.525 | 0.846 | 2.9E-04 |
|
group | 0.100 | None | 1.000 | 6 | 1 | 1966 | 2013 | ||||||||
|
atlastin GTPase 1 | 0.593 | 0.654 | 0.98 |
|
group | 0.110 | None | 1.000 | 3 | 2 | 2005 | 2013 | ||||||||
|
SCN1A and SCN9A antisense RNA 1 | 0.636 | 0.346 |
|
group | 0.100 | None | 1.000 | 19 | 2 | 1997 | 2014 | |||||||||
|
sodium voltage-gated channel alpha subunit 1 | 0.477 | 0.808 | 1.00 |
|
group | 0.410 | None | 1.000 | 19 | 2 | 1997 | 2014 | ||||||||
|
colony stimulating factor 1 receptor | 0.448 | 0.808 | 0.13 |
|
group | 0.100 | None | 1.000 | 13 | 1 | 1984 | 2014 | ||||||||
|
gap junction protein gamma 2 | 0.593 | 0.692 | 1.0E-02 |
|
group | 0.100 | None | 1.000 | 7 | 2 | 2004 | 2014 |