| 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. | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
fibroblast growth factor receptor 3 | 0.391 | 0.846 | 1.6E-05 |
|
phenotype | 0.410 | None | 1.000 | 0 | 0 | 2015 | 2015 | ||||||||
|
DNA methyltransferase 1 | 0.406 | 0.885 | 1.00 |
|
phenotype | 0.510 | strong | 1.000 | 1 | 0 | 1998 | 2019 | ||||||||
|
collagen type XI alpha 2 chain | 0.435 | 0.846 | 0.70 |
|
phenotype | 0.320 | strong | 1.000 | 1 | 0 | 1998 | 2012 | ||||||||
|
gap junction protein beta 2 | 0.441 | 0.846 | 6.6E-16 |
|
phenotype | 0.500 | strong | 0.968 | 1 | 0 | 1998 | 2019 | ||||||||
|
chromodomain helicase DNA binding protein 7 | 0.441 | 0.846 | 1.00 |
|
phenotype | 0.410 | strong | 1.000 | 1 | 0 | 2014 | 2018 | ||||||||
|
actin gamma 1 | 0.477 | 0.846 | 4.8E-03 |
|
phenotype | 0.430 | strong | 1.000 | 1 | 0 | 1996 | 2009 | ||||||||
|
forkhead box C1 | 0.483 | 0.846 | 0.95 |
|
phenotype | 0.410 | strong | 0.500 | 1 | 0 | 2004 | 2013 | ||||||||
|
paired like homeodomain 2 | 0.489 | 0.808 | 0.98 |
|
phenotype | 0.400 | None | 0 | 0 | |||||||||||
|
spalt like transcription factor 4 | 0.489 | 0.769 | 1.00 |
|
phenotype | 0.410 | strong | 1.000 | 0 | 0 | 2007 | 2007 | ||||||||
|
ribosomal protein S6 kinase A3 | 0.491 | 0.846 | 1.00 |
|
phenotype | 0.300 | None | 0 | 0 | |||||||||||
|
SIX homeobox 1 | 0.496 | 0.692 | 0.65 |
|
phenotype | 0.420 | strong | 0.667 | 1 | 0 | 1998 | 2011 | ||||||||
|
FA complementation group A | 0.505 | 0.731 | 1.6E-68 |
|
phenotype | 0.400 | strong | 1.000 | 2 | 0 | 1996 | 2006 | ||||||||
|
fibroblast growth factor 3 | 0.505 | 0.808 | 9.3E-05 |
|
phenotype | 0.400 | strong | 1.000 | 1 | 0 | 1987 | 1987 | ||||||||
|
FA complementation group C | 0.507 | 0.808 | 2.8E-13 |
|
phenotype | 0.400 | strong | 1.000 | 2 | 0 | 1992 | 2006 | ||||||||
|
solute carrier family 26 member 4 | 0.507 | 0.885 | 9.0E-22 |
|
phenotype | 0.700 | strong | 1.000 | 1 | 0 | 1999 | 2018 | ||||||||
|
translocase of inner mitochondrial membrane 8A | 0.510 | 0.846 | 0.65 |
|
phenotype | 0.310 | strong | 1.000 | 1 | 0 | 1996 | 2003 | ||||||||
|
gap junction protein beta 6 | 0.528 | 0.808 | 1.7E-07 |
|
phenotype | 0.500 | moderate | 0.931 | 1 | 0 | 1998 | 2019 | ||||||||
|
wolframin ER transmembrane glycoprotein | 0.528 | 0.846 | 1.6E-38 |
|
phenotype | 0.500 | strong | 1.000 | 1 | 0 | 1998 | 2017 | ||||||||
|
EYA transcriptional coactivator and phosphatase 1 | 0.531 | 0.731 | 0.95 |
|
phenotype | 0.400 | strong | 1.000 | 1 | 0 | 1998 | 1998 | ||||||||
|
cadherin related 23 | 0.539 | 0.769 | 3.2E-06 |
|
phenotype | 0.470 | strong | 1.000 | 1 | 0 | 1989 | 2019 | ||||||||
|
calcium and integrin binding family member 2 | 0.545 | 0.808 | 1.4E-03 |
|
phenotype | 0.320 | strong | 1.000 | 1 | 0 | 1999 | 2019 | ||||||||
|
hydroxysteroid 17-beta dehydrogenase 4 | 0.546 | 0.654 | 2.4E-10 |
|
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 | ||||||||
|
collagen type IV alpha 5 chain | 0.553 | 0.654 | 1.00 |
|
phenotype | 0.410 | strong | 1.000 | 1 | 0 | 1995 | 1997 | ||||||||
|
diablo IAP-binding mitochondrial protein | 0.555 | 0.692 | 2.6E-06 |
|
phenotype | 0.300 | moderate | 1.000 | 1 | 0 | 2016 | 2016 |