| 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. | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
zinc finger and BTB domain containing 20 | 0.566 | 0.731 | 0.97 |
|
phenotype | 0.100 | None | 1.000 | 7 | 1 | 2009 | 2017 | ||||||||
|
WD repeat domain 45 | 0.647 | 0.423 | 0.99 |
|
phenotype | 0.100 | None | 1.000 | 10 | 1 | 2010 | 2017 | ||||||||
|
usherin | 0.579 | 0.692 | 1.6E-94 |
|
phenotype | 0.100 | None | 1.000 | 15 | 2 | 2000 | 2015 | ||||||||
|
ubiquitin conjugating enzyme E2 A | 0.623 | 0.692 | 0.81 |
|
phenotype | 0.100 | None | 1.000 | 8 | 1 | 2006 | 2017 | ||||||||
|
tubulin beta 3 class III | 0.486 | 0.808 | 2.6E-10 |
|
phenotype | 0.100 | None | 1.000 | 10 | 1 | 2010 | 2016 | ||||||||
|
trio Rho guanine nucleotide exchange factor | 0.556 | 0.731 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 9 | 1 | 1996 | 2017 | ||||||||
|
transmembrane and coiled-coil domains 1 | 0.588 | 0.654 | 9.4E-10 |
|
phenotype | 0.100 | None | 1.000 | 4 | 2 | 2010 | 2014 | ||||||||
|
syntaxin binding protein 1 | 0.532 | 0.692 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 27 | 1 | 1998 | 2016 | ||||||||
|
solute carrier family 2 member 1 | 0.388 | 0.808 | 0.99 |
|
phenotype | 0.100 | None | 1.000 | 21 | 1 | 1991 | 2016 | ||||||||
|
SH3 and multiple ankyrin repeat domains 2 | 0.663 | 0.385 | 8.4E-07 |
|
phenotype | 0.100 | None | 1.000 | 12 | 1 | 2010 | 2017 | ||||||||
|
succinate dehydrogenase complex flavoprotein subunit A | 0.517 | 0.731 | 2.6E-10 |
|
phenotype | 0.100 | None | 1.000 | 4 | 1 | 2010 | 2017 | ||||||||
|
sodium voltage-gated channel alpha subunit 9 | 0.543 | 0.615 | 4.8E-19 |
|
phenotype | 0.100 | None | 1.000 | 21 | 1 | 1995 | 2016 | ||||||||
|
SCN1A and SCN9A antisense RNA 1 | 0.636 | 0.346 |
|
phenotype | 0.100 | None | 1.000 | 40 | 2 | 1995 | 2016 | |||||||||
|
sodium voltage-gated channel alpha subunit 1 | 0.477 | 0.808 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 19 | 1 | 1997 | 2014 | ||||||||
|
retinoic acid induced 1 | 0.545 | 0.731 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 9 | 1 | 2004 | 2016 | ||||||||
|
phosphatase and tensin homolog | 0.305 | 0.923 | 0.26 |
|
phenotype | 0.100 | None | 1.000 | 14 | 3 | 2001 | 2015 | ||||||||
|
patched 1 | 0.398 | 0.885 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 13 | 2 | 1996 | 2016 | ||||||||
|
PMS1 homolog 2, mismatch repair system component | 0.484 | 0.808 | 4.5E-27 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2007 | 2007 | ||||||||
|
protein kinase domain containing, cytoplasmic | 0.821 | 0.154 | 2.1E-05 |
|
phenotype | 0.100 | None | 1.000 | 5 | 1 | 2009 | 2014 | ||||||||
|
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | 0.292 | 0.923 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 14 | 3 | 2006 | 2018 | ||||||||
|
paired like homeobox 2B | 0.565 | 0.731 | 0.94 |
|
phenotype | 0.100 | None | 1.000 | 4 | 1 | 2003 | 2017 | ||||||||
|
phenylalanine hydroxylase | 0.516 | 0.769 | 6.4E-23 |
|
phenotype | 0.100 | None | 1.000 | 17 | 2 | 1993 | 2015 | ||||||||
|
platelet activating factor acetylhydrolase 1b regulatory subunit 1 | 0.504 | 0.769 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 6 | 1 | 1997 | 2017 | ||||||||
|
nuclear receptor binding SET domain protein 1 | 0.505 | 0.769 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
neuroligin 3 | 0.653 | 0.462 | 0.98 |
|
phenotype | 0.100 | None | 1.000 | 4 | 1 | 2003 | 2014 |