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 2 | 0.441 | 0.846 | 6.6E-16 |
|
phenotype | 0.450 | None | 1.000 | 6 | 1 | 2002 | 2008 | ||||||||
|
GATA binding protein 3 | 0.415 | 0.846 | 0.90 |
|
phenotype | 0.040 | None | 1.000 | 4 | 0 | 2004 | 2006 | ||||||||
|
s-rRNA | 0.626 | 0.769 |
|
phenotype | 0.300 | None | 1.000 | 4 | 0 | 1997 | 2005 | |||||||||
|
OPA1 mitochondrial dynamin like GTPase | 0.510 | 0.846 | 0.99 |
|
phenotype | 0.040 | None | 1.000 | 4 | 0 | 2003 | 2008 | ||||||||
|
protocadherin related 15 | 0.601 | 0.577 | 8.0E-25 |
|
phenotype | 0.310 | None | 1.000 | 2 | 0 | 2000 | 2008 | ||||||||
|
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 | ||||||||
|
gap junction protein beta 3 | 0.621 | 0.462 | 2.2E-03 |
|
phenotype | 0.500 | strong | 1.000 | 2 | 0 | 1998 | 1999 | ||||||||
|
barttin CLCNK type accessory subunit beta | 0.603 | 0.692 | 1.1E-10 |
|
phenotype | 0.020 | None | 1.000 | 2 | 0 | 2006 | 2006 | ||||||||
|
pejvakin | 0.769 | 0.115 | 3.7E-08 |
|
phenotype | 0.400 | None | 1.000 | 1 | 3 | 2007 | 2007 | ||||||||
|
myosin VIIA | 0.585 | 0.423 | 1.6E-38 |
|
phenotype | 0.300 | None | 1.000 | 1 | 5 | 2005 | 2005 | ||||||||
|
potassium voltage-gated channel subfamily Q member 4 | 0.674 | 0.462 | 0.47 |
|
phenotype | 0.010 | None | 1.000 | 1 | 0 | 2007 | 2007 | ||||||||
|
myosin heavy chain 9 | 0.505 | 0.808 | 1.00 |
|
phenotype | 0.010 | None | 1.000 | 1 | 0 | 2008 | 2008 | ||||||||
|
melanocyte inducing transcription factor | 0.499 | 0.808 | 0.98 |
|
phenotype | 0.300 | None | 1.000 | 1 | 0 | 1997 | 1997 | ||||||||
|
SMAD family member 4 | 0.401 | 0.808 | 1.00 |
|
phenotype | 0.300 | None | 1.000 | 1 | 0 | 2011 | 2011 | ||||||||
|
otoferlin | 0.691 | 0.385 | 5.4E-39 |
|
phenotype | 0.400 | None | 1.000 | 1 | 2 | 2007 | 2007 | ||||||||
|
paired box 3 | 0.481 | 0.769 | 0.24 |
|
phenotype | 0.300 | None | 1.000 | 1 | 0 | 2003 | 2003 | ||||||||
|
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 | ||||||||
|
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 | ||||||||
|
solute carrier family 4 member 11 | 0.674 | 0.385 | 4.6E-15 |
|
phenotype | 0.010 | None | 1.000 | 1 | 0 | 2002 | 2002 | ||||||||
|
calcium voltage-gated channel subunit alpha1 D | 0.582 | 0.577 | 1.00 |
|
phenotype | 0.300 | None | 1.000 | 1 | 0 | 2004 | 2004 | ||||||||
|
transaldolase 1 | 0.608 | 0.654 | 2.5E-06 |
|
phenotype | 0.010 | None | 1.000 | 1 | 0 | 2008 | 2008 | ||||||||
|
transmembrane serine protease 3 | 0.650 | 0.538 | 6.1E-11 |
|
phenotype | 0.010 | None | 1.000 | 1 | 0 | 2004 | 2004 |