| 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. | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
collagen type IV alpha 4 chain | 0.644 | 0.500 | 6.7E-16 |
|
phenotype | 0.110 | None | 1.000 | 0 | 2 | 2002 | 2002 | ||||||||
|
transmembrane serine protease 3 | 0.650 | 0.538 | 6.1E-11 |
|
phenotype | 0.460 | strong | 1.000 | 0 | 2 | 2003 | 2014 | ||||||||
|
DDB1 and CUL4 associated factor 17 | 0.653 | 0.577 | 3.7E-07 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2016 | 2016 | ||||||||
|
USH1 protein network component sans | 0.659 | 0.346 | 3.7E-05 |
|
phenotype | 0.620 | strong | 1.000 | 0 | 3 | 2014 | 2019 | ||||||||
|
AMMECR nuclear protein 1 | 0.659 | 0.692 | 0.82 |
|
phenotype | 0.100 | None | 0 | 2 | |||||||||||
|
whirlin | 0.670 | 0.385 | 7.7E-05 |
|
phenotype | 0.430 | strong | 1.000 | 0 | 1 | 2009 | 2019 | ||||||||
|
photoreceptor cilium actin regulator | 0.674 | 0.346 | 3.0E-18 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
potassium voltage-gated channel subfamily Q member 4 | 0.674 | 0.462 | 0.47 |
|
phenotype | 0.170 | None | 1.000 | 0 | 1 | 1999 | 2017 | ||||||||
|
cyclin dependent kinase 20 | 0.682 | 0.462 | 5.9E-14 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
otoferlin | 0.691 | 0.385 | 5.4E-39 |
|
phenotype | 0.480 | strong | 1.000 | 0 | 15 | 1998 | 2017 | ||||||||
|
stereocilin | 0.700 | 0.192 | 1.8E-15 |
|
phenotype | 0.150 | None | 1.000 | 0 | 1 | 2012 | 2019 | ||||||||
|
POU class 4 homeobox 3 | 0.700 | 0.538 | 0.92 |
|
phenotype | 0.150 | None | 0.800 | 0 | 1 | 2003 | 2017 | ||||||||
|
tectorin alpha | 0.700 | 0.385 | 3.0E-16 |
|
phenotype | 0.500 | strong | 1.000 | 0 | 4 | 1998 | 2018 | ||||||||
|
espin | 0.700 | 0.385 | 2.9E-09 |
|
phenotype | 0.120 | None | 1.000 | 0 | 1 | 2006 | 2008 | ||||||||
|
MARVEL domain containing 2 | 0.705 | 0.462 | 1.3E-12 |
|
phenotype | 0.420 | strong | 1.000 | 0 | 1 | 2008 | 2015 | ||||||||
|
claudin 14 | 0.705 | 0.462 | 1.1E-04 |
|
phenotype | 0.400 | strong | 1.000 | 0 | 1 | 2012 | 2012 | ||||||||
|
HIVEP zinc finger 1 | 0.711 | 0.500 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
DExH-box helicase 30 | 0.722 | 0.500 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
myosin XVA | 0.722 | 0.346 | 1.3E-56 |
|
phenotype | 0.430 | strong | 1.000 | 0 | 15 | 1998 | 2019 | ||||||||
|
RNA polymerase II subunit F | 0.722 | 0.308 | 1.3E-02 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
creatine kinase, mitochondrial 1B | 0.729 | 0.346 | 3.2E-05 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
methionine sulfoxide reductase B3 | 0.729 | 0.308 | 3.8E-03 |
|
phenotype | 0.600 | strong | 1.000 | 0 | 1 | 2011 | 2014 | ||||||||
|
immunoglobulin like domain containing receptor 1 | 0.729 | 0.346 | 2.6E-12 |
|
phenotype | 0.420 | strong | 1.000 | 0 | 3 | 2011 | 2019 | ||||||||
|
TRIO and F-actin binding protein | 0.743 | 0.269 | 2.0E-28 |
|
phenotype | 0.430 | strong | 1.000 | 0 | 6 | 2006 | 2017 | ||||||||
|
protein tyrosine phosphatase receptor type Q | 0.751 | 0.462 | 4.2E-21 |
|
phenotype | 0.100 | None | 0 | 1 |