| 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. | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
SIX homeobox 1 | 0.496 | 0.692 | 0.65 |
|
phenotype | 0.420 | strong | 0.667 | 0 | 1 | 1998 | 2011 | ||||||||
|
collagen type II alpha 1 chain | 0.444 | 0.846 | 1.00 |
|
phenotype | 0.110 | None | 1.000 | 0 | 1 | 2012 | 2012 | ||||||||
|
leucine rich transmembrane and O-methyltransferase domain containing | 0.792 | 0.192 | 7.0E-05 |
|
phenotype | 0.430 | strong | 1.000 | 0 | 1 | 2007 | 2012 | ||||||||
|
claudin 14 | 0.705 | 0.462 | 1.1E-04 |
|
phenotype | 0.400 | strong | 1.000 | 0 | 1 | 2012 | 2012 | ||||||||
|
hexosaminidase subunit alpha | 0.633 | 0.615 | 1.3E-11 |
|
phenotype | 0.100 | None | 1.000 | 4 | 5 | 1992 | 2014 | ||||||||
|
methionine sulfoxide reductase B3 | 0.729 | 0.308 | 3.8E-03 |
|
phenotype | 0.600 | strong | 1.000 | 0 | 1 | 2011 | 2014 | ||||||||
|
transmembrane serine protease 3 | 0.650 | 0.538 | 6.1E-11 |
|
phenotype | 0.460 | strong | 1.000 | 0 | 2 | 2003 | 2014 | ||||||||
|
transmembrane channel like 1 | 0.769 | 0.346 | 9.2E-19 |
|
phenotype | 0.450 | strong | 0.833 | 0 | 4 | 2004 | 2015 | ||||||||
|
SRY-box transcription factor 10 | 0.461 | 0.808 | 0.99 |
|
phenotype | 0.110 | None | 1.000 | 0 | 1 | 2015 | 2015 | ||||||||
|
fibroblast growth factor receptor 3 | 0.391 | 0.846 | 1.6E-05 |
|
phenotype | 0.410 | None | 1.000 | 0 | 1 | 2015 | 2015 | ||||||||
|
MARVEL domain containing 2 | 0.705 | 0.462 | 1.3E-12 |
|
phenotype | 0.420 | strong | 1.000 | 0 | 1 | 2008 | 2015 | ||||||||
|
DDB1 and CUL4 associated factor 17 | 0.653 | 0.577 | 3.7E-07 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2016 | 2016 | ||||||||
|
myosin IIIA | 0.780 | 0.269 | 1.8E-45 |
|
phenotype | 0.410 | strong | 1.000 | 0 | 4 | 2011 | 2016 | ||||||||
|
paired box 3 | 0.481 | 0.769 | 0.24 |
|
phenotype | 0.110 | None | 1.000 | 0 | 1 | 2016 | 2016 | ||||||||
|
potassium voltage-gated channel subfamily Q member 1 | 0.485 | 0.769 | 4.5E-08 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2017 | 2017 | ||||||||
|
gap junction protein beta 3 | 0.621 | 0.462 | 2.2E-03 |
|
phenotype | 0.500 | strong | 1.000 | 0 | 1 | 1998 | 2017 | ||||||||
|
potassium voltage-gated channel subfamily Q member 4 | 0.674 | 0.462 | 0.47 |
|
phenotype | 0.170 | None | 1.000 | 0 | 1 | 1999 | 2017 | ||||||||
|
POU class 4 homeobox 3 | 0.700 | 0.538 | 0.92 |
|
phenotype | 0.150 | None | 0.800 | 0 | 1 | 2003 | 2017 | ||||||||
|
otoferlin | 0.691 | 0.385 | 5.4E-39 |
|
phenotype | 0.480 | strong | 1.000 | 0 | 15 | 1998 | 2017 | ||||||||
|
potassium voltage-gated channel subfamily E regulatory subunit 1 | 0.588 | 0.615 | 3.4E-03 |
|
phenotype | 0.110 | None | 1.000 | 0 | 3 | 2017 | 2017 | ||||||||
|
TRIO and F-actin binding protein | 0.743 | 0.269 | 2.0E-28 |
|
phenotype | 0.430 | strong | 1.000 | 0 | 6 | 2006 | 2017 | ||||||||
|
chromodomain helicase DNA binding protein 7 | 0.441 | 0.846 | 1.00 |
|
phenotype | 0.410 | strong | 1.000 | 0 | 2 | 2014 | 2018 | ||||||||
|
solute carrier family 26 member 4 | 0.507 | 0.885 | 9.0E-22 |
|
phenotype | 0.700 | strong | 1.000 | 0 | 38 | 1999 | 2018 | ||||||||
|
tectorin alpha | 0.700 | 0.385 | 3.0E-16 |
|
phenotype | 0.500 | strong | 1.000 | 0 | 4 | 1998 | 2018 | ||||||||
|
gap junction protein beta 2 | 0.441 | 0.846 | 6.6E-16 |
|
phenotype | 0.500 | strong | 0.968 | 2 | 38 | 1998 | 2019 |