| 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. | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
gap junction protein beta 3 | 0.621 | 0.462 | 2.2E-03 |
|
phenotype | 0.500 | strong | 1.000 | 2 | 0 | 1998 | 1999 | ||||||||
|
transmembrane O-mannosyltransferase targeting cadherins 2 | 0.760 | 0.269 | 2.3E-02 |
|
phenotype | 0.500 | None | 1.000 | 1 | 0 | 2016 | 2016 | ||||||||
|
gap junction protein beta 2 | 0.441 | 0.846 | 6.6E-16 |
|
phenotype | 0.450 | None | 1.000 | 6 | 1 | 2002 | 2008 | ||||||||
|
claudin 14 | 0.705 | 0.462 | 1.1E-04 |
|
phenotype | 0.400 | None | 1.000 | 1 | 1 | 2001 | 2001 | ||||||||
|
otoferlin | 0.691 | 0.385 | 5.4E-39 |
|
phenotype | 0.400 | None | 1.000 | 1 | 2 | 2007 | 2007 | ||||||||
|
pejvakin | 0.769 | 0.115 | 3.7E-08 |
|
phenotype | 0.400 | None | 1.000 | 1 | 3 | 2007 | 2007 | ||||||||
|
protocadherin related 15 | 0.601 | 0.577 | 8.0E-25 |
|
phenotype | 0.310 | None | 1.000 | 2 | 0 | 2000 | 2008 | ||||||||
|
adenylate kinase 2 | 0.678 | 0.423 | 6.3E-05 |
|
phenotype | 0.310 | None | 1.000 | 1 | 0 | 2009 | 2009 | ||||||||
|
jagged canonical Notch ligand 1 | 0.429 | 0.808 | 1.00 |
|
phenotype | 0.310 | None | 1.000 | 1 | 0 | 2002 | 2002 | ||||||||
|
s-rRNA | 0.626 | 0.769 |
|
phenotype | 0.300 | None | 1.000 | 4 | 0 | 1997 | 2005 | |||||||||
|
brain derived neurotrophic factor | 0.345 | 0.923 | 0.66 |
|
phenotype | 0.300 | None | 1.000 | 2 | 0 | 2009 | 2009 | ||||||||
|
espin | 0.700 | 0.385 | 2.9E-09 |
|
phenotype | 0.300 | None | 1.000 | 2 | 0 | 2004 | 2006 | ||||||||
|
plastin 1 | 0.821 | 0.346 | 1.1E-05 |
|
phenotype | 0.300 | None | 1.000 | 1 | 0 | 2019 | 2019 | ||||||||
|
cell division cycle 14A | 0.736 | 0.385 | 9.6E-08 |
|
phenotype | 0.300 | None | 1.000 | 1 | 0 | 2018 | 2018 | ||||||||
|
radial spoke head component 4A | 0.666 | 0.538 | 7.6E-11 |
|
phenotype | 0.300 | None | 1.000 | 1 | 0 | 2015 | 2015 | ||||||||
|
paired box 3 | 0.481 | 0.769 | 0.24 |
|
phenotype | 0.300 | None | 1.000 | 1 | 0 | 2003 | 2003 | ||||||||
|
myosin VIIA | 0.585 | 0.423 | 1.6E-38 |
|
phenotype | 0.300 | None | 1.000 | 1 | 5 | 2005 | 2005 | ||||||||
|
serine active site containing 1 | 0.686 | 0.385 | 3.9E-06 |
|
phenotype | 0.300 | None | 1.000 | 1 | 0 | 2012 | 2012 | ||||||||
|
spermatogenesis and centriole associated 1 like | 0.792 | 0.154 | 1.7E-08 |
|
phenotype | 0.300 | None | 1.000 | 1 | 0 | 2019 | 2019 | ||||||||
|
DNA polymerase delta 1, catalytic subunit | 0.507 | 0.769 | 2.4E-06 |
|
phenotype | 0.300 | None | 1.000 | 1 | 0 | 2013 | 2013 | ||||||||
|
phosphatidylserine decarboxylase | 0.821 | 0.308 | 0.22 |
|
phenotype | 0.300 | None | 1.000 | 1 | 0 | 2019 | 2019 | ||||||||
|
SMAD family member 4 | 0.401 | 0.808 | 1.00 |
|
phenotype | 0.300 | None | 1.000 | 1 | 0 | 2011 | 2011 | ||||||||
|
forkhead box I1 | 0.686 | 0.462 | 0.77 |
|
phenotype | 0.300 | moderate | 1.000 | 1 | 0 | 2018 | 2018 | ||||||||
|
calcium voltage-gated channel subunit alpha1 D | 0.582 | 0.577 | 1.00 |
|
phenotype | 0.300 | None | 1.000 | 1 | 0 | 2004 | 2004 | ||||||||
|
melanocyte inducing transcription factor | 0.499 | 0.808 | 0.98 |
|
phenotype | 0.300 | None | 1.000 | 1 | 0 | 1997 | 1997 |