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. | ||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
phosphoribosyl pyrophosphate synthetase 1 | 0.584 | 0.731 | 0.92 |
|
disease | 0.200 | None | 1.000 | 1 | 2 | 2010 | 2020 | ||||||||
|
collagen type XI alpha 1 chain | 0.495 | 0.846 | 1.00 |
|
disease | 0.110 | None | 1.000 | 0 | 0 | 2020 | 2020 | ||||||||
|
gap junction protein beta 2 | 0.441 | 0.846 | 6.6E-16 |
|
disease | 0.700 | None | 0.973 | 0 | 4 | 1994 | 2020 | ||||||||
|
histidyl-tRNA synthetase 2, mitochondrial | 0.705 | 0.462 | 2.8E-05 |
|
disease | 0.130 | None | 1.000 | 0 | 0 | 2011 | 2020 | ||||||||
|
ATPase H+ transporting V1 subunit B1 | 0.695 | 0.346 | 2.4E-09 |
|
disease | 0.200 | None | 0.952 | 0 | 0 | 1999 | 2020 | ||||||||
|
coenzyme Q6, monooxygenase | 0.760 | 0.385 | 4.3E-15 |
|
disease | 0.130 | None | 1.000 | 0 | 0 | 2011 | 2020 | ||||||||
|
otoferlin | 0.691 | 0.385 | 5.4E-39 |
|
disease | 0.140 | None | 1.000 | 0 | 0 | 1995 | 2019 | ||||||||
|
myosin heavy chain 9 | 0.505 | 0.808 | 1.00 |
|
disease | 0.490 | strong | 0.900 | 0 | 0 | 2000 | 2019 | ||||||||
|
myosin heavy chain 6 | 0.581 | 0.615 | 1.6E-32 |
|
disease | 0.140 | None | 1.000 | 0 | 0 | 2004 | 2019 | ||||||||
|
ring finger protein 13 | 0.722 | 0.346 | 4.0E-04 |
|
disease | 0.400 | moderate | 1.000 | 0 | 0 | 2019 | 2019 | ||||||||
|
NLR family pyrin domain containing 3 | 0.361 | 0.962 | 8.1E-04 |
|
disease | 0.130 | None | 1.000 | 0 | 0 | 2017 | 2019 | ||||||||
|
gap junction protein beta 6 | 0.528 | 0.808 | 1.7E-07 |
|
disease | 0.200 | None | 0.944 | 0 | 0 | 2001 | 2019 | ||||||||
|
stereocilin | 0.700 | 0.192 | 1.8E-15 |
|
disease | 0.130 | None | 1.000 | 0 | 1 | 2001 | 2019 | ||||||||
|
insulin like growth factor 1 | 0.318 | 0.885 | 0.27 |
|
disease | 0.170 | None | 1.000 | 0 | 0 | 2000 | 2019 | ||||||||
|
transmembrane serine protease 3 | 0.650 | 0.538 | 6.1E-11 |
|
disease | 0.120 | None | 1.000 | 0 | 0 | 2001 | 2019 | ||||||||
|
SIX homeobox 1 | 0.496 | 0.692 | 0.65 |
|
disease | 0.110 | None | 1.000 | 0 | 0 | 2019 | 2019 | ||||||||
|
cytochrome c oxidase subunit 8A | 0.400 | 0.846 | 0.12 |
|
disease | 0.110 | None | 1.000 | 0 | 0 | 2019 | 2019 | ||||||||
|
lysine demethylase 6A | 0.498 | 0.769 | 1.00 |
|
disease | 0.110 | None | 1.000 | 0 | 0 | 2019 | 2019 | ||||||||
|
Dmx like 2 | 0.695 | 0.538 | 1.00 |
|
disease | 0.400 | None | 1.000 | 0 | 0 | 2012 | 2019 | ||||||||
|
cochlin | 0.659 | 0.385 | 1.2E-07 |
|
disease | 0.200 | None | 0.923 | 0 | 0 | 2001 | 2019 | ||||||||
|
GRB2 related adaptor protein | 0.821 | 0.462 | 0.11 |
|
disease | 0.110 | None | 1.000 | 0 | 0 | 2019 | 2019 | ||||||||
|
solute carrier family 26 member 4 | 0.507 | 0.885 | 9.0E-22 |
|
disease | 0.700 | strong | 1.000 | 0 | 0 | 1996 | 2019 | ||||||||
|
otoancorin | 0.760 | 0.423 | 3.0E-10 |
|
disease | 0.110 | None | 1.000 | 0 | 0 | 2019 | 2019 | ||||||||
|
abhydrolase domain containing 12 | 0.666 | 0.385 | 1.9E-05 |
|
disease | 0.400 | strong | 1.000 | 1 | 1 | 2014 | 2018 | ||||||||
|
GIPC PDZ domain containing family member 3 | 0.780 | 0.231 | 9.3E-03 |
|
disease | 0.140 | None | 1.000 | 0 | 1 | 2011 | 2018 |