| 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. | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
FA complementation group G | 0.556 | 0.769 | 2.5E-14 |
|
phenotype | 0.400 | strong | 1.000 | 2 | 0 | 1998 | 2006 | ||||||||
|
polyribonucleotide nucleotidyltransferase 1 | 0.653 | 0.462 | 4.0E-04 |
|
phenotype | 0.400 | None | 1.000 | 2 | 0 | 2012 | 2016 | ||||||||
|
FA complementation group C | 0.507 | 0.808 | 2.8E-13 |
|
phenotype | 0.400 | strong | 1.000 | 2 | 0 | 1992 | 2006 | ||||||||
|
FA complementation group A | 0.505 | 0.731 | 1.6E-68 |
|
phenotype | 0.400 | strong | 1.000 | 2 | 0 | 1996 | 2006 | ||||||||
|
tight junction protein 2 | 0.663 | 0.500 | 3.2E-11 |
|
phenotype | 0.510 | limited | 1.000 | 1 | 0 | 2011 | 2014 | ||||||||
|
trafficking protein particle complex 4 | 0.805 | 0.308 | 4.1E-06 |
|
phenotype | 0.300 | None | 1.000 | 1 | 0 | 2020 | 2020 | ||||||||
|
solute carrier family 26 member 4 | 0.507 | 0.885 | 9.0E-22 |
|
phenotype | 0.700 | strong | 1.000 | 1 | 0 | 1999 | 2018 | ||||||||
|
ATPase H+ transporting V1 subunit B1 | 0.695 | 0.346 | 2.4E-09 |
|
phenotype | 0.300 | strong | 1.000 | 1 | 0 | 1999 | 1999 | ||||||||
|
serpin family B member 6 | 0.547 | 0.769 | 1.1E-04 |
|
phenotype | 0.300 | strong | 1.000 | 1 | 0 | 1995 | 1995 | ||||||||
|
myosin XVA | 0.722 | 0.346 | 1.3E-56 |
|
phenotype | 0.430 | strong | 1.000 | 1 | 0 | 1998 | 2019 | ||||||||
|
pejvakin | 0.769 | 0.115 | 3.7E-08 |
|
phenotype | 0.420 | strong | 1.000 | 1 | 0 | 2007 | 2007 | ||||||||
|
myosin VIIA | 0.585 | 0.423 | 1.6E-38 |
|
phenotype | 0.500 | strong | 1.000 | 1 | 0 | 1998 | 2019 | ||||||||
|
MN1 proto-oncogene, transcriptional regulator | 0.682 | 0.385 | 1.00 |
|
phenotype | 0.300 | None | 1.000 | 1 | 0 | 2005 | 2005 | ||||||||
|
glutaredoxin and cysteine rich domain containing 1 | 0.861 | 0.115 | 3.9E-11 |
|
phenotype | 0.410 | strong | 1.000 | 1 | 0 | 2010 | 2010 | ||||||||
|
solute carrier family 26 member 5 | 0.666 | 0.615 | 7.0E-08 |
|
phenotype | 0.320 | strong | 1.000 | 1 | 0 | 2005 | 2016 | ||||||||
|
hydroxysteroid 17-beta dehydrogenase 4 | 0.546 | 0.654 | 2.4E-10 |
|
phenotype | 0.300 | strong | 1.000 | 1 | 0 | 1999 | 1999 | ||||||||
|
immunoglobulin like domain containing receptor 1 | 0.729 | 0.346 | 2.6E-12 |
|
phenotype | 0.420 | strong | 1.000 | 1 | 0 | 2011 | 2019 | ||||||||
|
taperin | 0.839 | 0.115 | 7.2E-03 |
|
phenotype | 0.400 | strong | 1.000 | 1 | 0 | 2010 | 2010 | ||||||||
|
gap junction protein beta 3 | 0.621 | 0.462 | 2.2E-03 |
|
phenotype | 0.500 | strong | 1.000 | 1 | 0 | 1998 | 2017 | ||||||||
|
myosin IIIA | 0.780 | 0.269 | 1.8E-45 |
|
phenotype | 0.410 | strong | 1.000 | 1 | 0 | 2011 | 2016 | ||||||||
|
POU class 3 homeobox 4 | 0.633 | 0.654 | 0.57 |
|
phenotype | 0.420 | strong | 1.000 | 1 | 0 | 1995 | 2009 | ||||||||
|
otoferlin | 0.691 | 0.385 | 5.4E-39 |
|
phenotype | 0.480 | strong | 1.000 | 1 | 0 | 1998 | 2017 | ||||||||
|
adhesion G protein-coupled receptor V1 | 0.572 | 0.731 | 3.2E-39 |
|
phenotype | 0.410 | strong | 1.000 | 1 | 0 | 1998 | 2019 | ||||||||
|
grainyhead like transcription factor 2 | 0.590 | 0.731 | 1.00 |
|
phenotype | 0.330 | strong | 0.750 | 1 | 0 | 2008 | 2019 | ||||||||
|
barttin CLCNK type accessory subunit beta | 0.603 | 0.692 | 1.1E-10 |
|
phenotype | 0.300 | strong | 1.000 | 1 | 0 | 1998 | 1998 |