| 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. | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
Usher syndrome 1E (autosomal recessive, severe) | 0.861 | 0.231 |
|
disease | 0.010 | None | 1.000 | 1 | 0 | 1997 | 1997 | |||||||||
|
KIT proto-oncogene, receptor tyrosine kinase | 0.366 | 0.808 | 0.98 |
|
disease | 0.010 | None | 1.000 | 1 | 0 | 1998 | 1998 | ||||||||
|
paired box 3 | 0.481 | 0.769 | 0.24 |
|
disease | 0.010 | None | 1.000 | 1 | 0 | 1999 | 1999 | ||||||||
|
regulator of chromosome condensation 1 | 0.686 | 0.538 | 0.93 |
|
disease | 0.010 | None | 1.000 | 1 | 0 | 1999 | 1999 | ||||||||
|
POU class 4 homeobox 3 | 0.700 | 0.538 | 0.92 |
|
disease | 0.010 | None | 1.000 | 1 | 0 | 1999 | 1999 | ||||||||
|
prostaglandin D2 synthase | 0.503 | 0.846 | 5.1E-03 |
|
disease | 0.020 | None | 1.000 | 2 | 0 | 1998 | 2000 | ||||||||
|
myosin XVA | 0.722 | 0.346 | 1.3E-56 |
|
disease | 0.030 | None | 1.000 | 3 | 0 | 1999 | 2001 | ||||||||
|
potassium voltage-gated channel subfamily E regulatory subunit 2 | 0.628 | 0.423 | 1.0E-04 |
|
disease | 0.010 | None | 1.000 | 1 | 0 | 2001 | 2001 | ||||||||
|
barttin CLCNK type accessory subunit beta | 0.603 | 0.692 | 1.1E-10 |
|
disease | 0.010 | None | 1.000 | 1 | 1 | 2003 | 2003 | ||||||||
|
EYA transcriptional coactivator and phosphatase 1 | 0.531 | 0.731 | 0.95 |
|
disease | 0.010 | None | 1.000 | 1 | 0 | 2003 | 2003 | ||||||||
|
deafness, autosomal recessive 17 | 0.931 | 0.192 |
|
disease | 0.010 | None | 1.000 | 1 | 0 | 2004 | 2004 | |||||||||
|
adhesion G protein-coupled receptor V1 | 0.572 | 0.731 | 3.2E-39 |
|
disease | 0.010 | None | 1.000 | 1 | 0 | 2004 | 2004 | ||||||||
|
MARVEL domain containing 2 | 0.705 | 0.462 | 1.3E-12 |
|
disease | 0.010 | None | 1.000 | 1 | 0 | 2005 | 2005 | ||||||||
|
chloride voltage-gated channel Kb | 0.593 | 0.692 | 1.4E-22 |
|
disease | 0.010 | None | 1.000 | 1 | 0 | 2006 | 2006 | ||||||||
|
growth arrest specific 1 | 0.587 | 0.654 | 0.82 |
|
disease | 0.010 | None | 1.000 | 1 | 0 | 2007 | 2007 | ||||||||
|
potassium voltage-gated channel subfamily Q member 3 | 0.604 | 0.462 | 0.80 |
|
disease | 0.020 | None | 1.000 | 2 | 0 | 2003 | 2008 | ||||||||
|
potassium voltage-gated channel subfamily Q member 4 | 0.674 | 0.462 | 0.47 |
|
disease | 0.020 | None | 1.000 | 2 | 0 | 2003 | 2008 | ||||||||
|
potassium voltage-gated channel subfamily Q member 2 | 0.537 | 0.654 | 1.00 |
|
disease | 0.010 | None | 1.000 | 1 | 0 | 2008 | 2008 | ||||||||
|
fibroblast growth factor 3 | 0.505 | 0.808 | 9.3E-05 |
|
disease | 0.020 | None | 1.000 | 2 | 0 | 2008 | 2009 | ||||||||
|
cystatin B | 0.530 | 0.692 | 6.6E-03 |
|
disease | 0.010 | None | 1.000 | 1 | 0 | 2009 | 2009 | ||||||||
|
potassium voltage-gated channel subfamily Q member 1 | 0.485 | 0.769 | 4.5E-08 |
|
disease | 0.060 | None | 1.000 | 6 | 1 | 1997 | 2010 | ||||||||
|
potassium voltage-gated channel subfamily E regulatory subunit 1 | 0.588 | 0.615 | 3.4E-03 |
|
disease | 0.050 | None | 1.000 | 5 | 0 | 1996 | 2011 | ||||||||
|
coagulation factor IX | 0.465 | 0.885 | 1.00 |
|
disease | 0.010 | None | 1.000 | 1 | 0 | 2011 | 2011 | ||||||||
|
cyclin dependent kinase inhibitor 2A | 0.300 | 0.885 | 0.39 |
|
disease | 0.010 | None | 1.000 | 1 | 0 | 2011 | 2011 | ||||||||
|
endothelin receptor type B | 0.470 | 0.846 | 9.2E-03 |
|
disease | 0.010 | None | 1.000 | 1 | 0 | 2011 | 2011 |