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. | ||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
otoferlin | 0.691 | 0.385 | 5.4E-39 |
|
disease | 0.010 | None | 1.000 | 1 | 1 | 2000 | 2000 | ||||||||
|
caseinolytic mitochondrial matrix peptidase proteolytic subunit | 0.722 | 0.423 | 0.57 |
|
disease | 0.010 | None | 1.000 | 1 | 0 | 2017 | 2017 | ||||||||
|
PPP1R2C family member C | 0.478 | 0.846 |
|
disease | 0.010 | None | 1.000 | 1 | 0 | 2005 | 2005 | |||||||||
|
DnaJ heat shock protein family (Hsp40) member C14 | 0.805 | 0.423 | 1.00 |
|
disease | 0.010 | None | 1.000 | 1 | 0 | 2016 | 2016 | ||||||||
|
TBC1 domain family member 24 | 0.530 | 0.808 | 1.3E-08 |
|
disease | 0.010 | None | 1.000 | 1 | 0 | 2017 | 2017 | ||||||||
|
butyrylcholinesterase | 0.447 | 0.923 | 1.1E-13 |
|
disease | 0.010 | None | 1.000 | 1 | 0 | 2018 | 2018 | ||||||||
|
heat shock protein family A (Hsp70) member 8 | 0.553 | 0.808 | 1.00 |
|
disease | 0.010 | None | 1.000 | 1 | 0 | 2016 | 2016 | ||||||||
|
solute carrier family 13 member 2 | 0.736 | 0.346 | 1.3E-13 |
|
disease | 0.010 | None | 1.000 | 1 | 0 | 2018 | 2018 | ||||||||
|
solute carrier family 13 member 5 | 0.608 | 0.577 | 5.1E-04 |
|
disease | 0.010 | None | 1.000 | 1 | 0 | 2018 | 2018 | ||||||||
|
transforming growth factor beta 1 | 0.287 | 0.962 | 3.7E-02 |
|
disease | 0.010 | None | 1.000 | 1 | 0 | 2019 | 2019 | ||||||||
|
thyroid hormone receptor beta | 0.554 | 0.769 | 1.00 |
|
disease | 0.010 | None | 1.000 | 1 | 0 | 2009 | 2009 | ||||||||
|
coagulation factor XI | 0.590 | 0.692 | 3.6E-26 |
|
disease | 0.010 | None | 1.000 | 1 | 0 | 2019 | 2019 | ||||||||
|
NK2 homeobox 1 | 0.457 | 0.808 | 0.36 |
|
disease | 0.010 | None | 1.000 | 1 | 0 | 2006 | 2006 | ||||||||
|
paired box 8 | 0.477 | 0.731 | 1.00 |
|
disease | 0.010 | None | 1.000 | 1 | 0 | 2006 | 2006 | ||||||||
|
pre T cell antigen receptor alpha | 0.656 | 0.692 | 0.14 |
|
disease | 0.010 | None | 1.000 | 1 | 0 | 2019 | 2019 | ||||||||
|
deafness, autosomal recessive 14 | 0.931 | 0.154 |
|
disease | 0.010 | None | 1.000 | 1 | 0 | 1999 | 1999 | |||||||||
|
solute carrier family 5 member 8 | 0.615 | 0.577 | 5.0E-16 |
|
disease | 0.010 | None | 1.000 | 1 | 0 | 2018 | 2018 | ||||||||
|
LY6/PLAUR domain containing 1 | 0.805 | 0.346 | 5.5E-04 |
|
disease | 0.010 | None | 1.000 | 1 | 0 | 2010 | 2010 | ||||||||
|
dual oxidase 1 | 0.570 | 0.692 | 6.2E-33 |
|
disease | 0.010 | None | 1.000 | 1 | 0 | 2006 | 2006 | ||||||||
|
gap junction protein beta 2 | 0.441 | 0.846 | 6.6E-16 |
|
disease | 0.020 | None | 1.000 | 2 | 0 | 2000 | 2006 | ||||||||
|
thyroid stimulating hormone receptor | 0.486 | 0.808 | 3.0E-15 |
|
disease | 0.020 | None | 1.000 | 2 | 0 | 2008 | 2009 | ||||||||
|
solute carrier family 26 member 5 | 0.666 | 0.615 | 7.0E-08 |
|
disease | 0.020 | None | 1.000 | 2 | 0 | 2001 | 2005 | ||||||||
|
solute carrier family 26 member 3 | 0.554 | 0.692 | 1.4E-13 |
|
disease | 0.030 | None | 1.000 | 3 | 0 | 1998 | 2017 | ||||||||
|
dual oxidase 2 | 0.533 | 0.769 | 4.5E-56 |
|
disease | 0.030 | None | 1.000 | 3 | 0 | 2005 | 2017 | ||||||||
|
solute carrier family 5 member 5 | 0.499 | 0.769 | 2.9E-03 |
|
disease | 0.030 | None | 1.000 | 3 | 0 | 2005 | 2018 |