| 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. | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
SCN1A and SCN9A antisense RNA 1 | 0.636 | 0.346 |
|
phenotype | 0.100 | None | 1.000 | 40 | 2 | 1995 | 2016 | |||||||||
|
BDNF antisense RNA | 0.638 | 0.538 |
|
phenotype | 0.100 | None | 1.000 | 6 | 1 | 2001 | 2018 | |||||||||
|
FLG antisense RNA 1 | 0.700 | 0.538 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2006 | 2006 | |||||||||
|
usherin | 0.579 | 0.692 | 1.6E-94 |
|
phenotype | 0.100 | None | 1.000 | 15 | 2 | 2000 | 2015 | ||||||||
|
dynein axonemal heavy chain 5 | 0.590 | 0.692 | 4.9E-64 |
|
phenotype | 0.100 | None | 1.000 | 6 | 1 | 2002 | 2013 | ||||||||
|
DNA methyltransferase 3 alpha | 0.445 | 0.846 | 7.4E-39 |
|
phenotype | 0.100 | None | 1.000 | 36 | 1 | 1989 | 2018 | ||||||||
|
myosin VIIA | 0.585 | 0.423 | 1.6E-38 |
|
phenotype | 0.100 | None | 1.000 | 13 | 2 | 1995 | 2011 | ||||||||
|
PMS1 homolog 2, mismatch repair system component | 0.484 | 0.808 | 4.5E-27 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2007 | 2007 | ||||||||
|
BRCA2 DNA repair associated | 0.379 | 0.846 | 2.4E-25 |
|
phenotype | 0.100 | None | 1.000 | 6 | 1 | 2005 | 2013 | ||||||||
|
phenylalanine hydroxylase | 0.516 | 0.769 | 6.4E-23 |
|
phenotype | 0.100 | None | 1.000 | 17 | 2 | 1993 | 2015 | ||||||||
|
aldehyde dehydrogenase 7 family member A1 | 0.551 | 0.769 | 1.4E-22 |
|
phenotype | 0.100 | None | 1.000 | 9 | 1 | 1996 | 2013 | ||||||||
|
sodium voltage-gated channel alpha subunit 9 | 0.543 | 0.615 | 4.8E-19 |
|
phenotype | 0.100 | None | 1.000 | 21 | 1 | 1995 | 2016 | ||||||||
|
Bardet-Biedl syndrome 2 | 0.565 | 0.654 | 1.0E-17 |
|
phenotype | 0.100 | None | 1.000 | 3 | 1 | 2007 | 2013 | ||||||||
|
MEFV innate immuity regulator, pyrin | 0.440 | 0.885 | 1.0E-14 |
|
phenotype | 0.100 | None | 1.000 | 12 | 1 | 1967 | 2017 | ||||||||
|
Bardet-Biedl syndrome 10 | 0.644 | 0.538 | 1.7E-12 |
|
phenotype | 0.100 | None | 1.000 | 17 | 4 | 1999 | 2013 | ||||||||
|
alsin Rho guanine nucleotide exchange factor ALS2 | 0.647 | 0.423 | 8.7E-12 |
|
phenotype | 0.100 | None | 1.000 | 7 | 1 | 1992 | 2017 | ||||||||
|
hexosaminidase subunit alpha | 0.633 | 0.615 | 1.3E-11 |
|
phenotype | 0.100 | None | 1.000 | 11 | 1 | 1986 | 2011 | ||||||||
|
myosin binding protein C3 | 0.593 | 0.385 | 8.0E-11 |
|
phenotype | 0.100 | None | 1.000 | 7 | 1 | 1995 | 2013 | ||||||||
|
tubulin beta 3 class III | 0.486 | 0.808 | 2.6E-10 |
|
phenotype | 0.100 | None | 1.000 | 10 | 1 | 2010 | 2016 | ||||||||
|
succinate dehydrogenase complex flavoprotein subunit A | 0.517 | 0.731 | 2.6E-10 |
|
phenotype | 0.100 | None | 1.000 | 4 | 1 | 2010 | 2017 | ||||||||
|
transmembrane and coiled-coil domains 1 | 0.588 | 0.654 | 9.4E-10 |
|
phenotype | 0.100 | None | 1.000 | 4 | 2 | 2010 | 2014 | ||||||||
|
McKusick-Kaufman syndrome | 0.566 | 0.692 | 2.1E-09 |
|
phenotype | 0.100 | None | 1.000 | 5 | 1 | 1999 | 2016 | ||||||||
|
acylglycerol kinase | 0.650 | 0.654 | 6.0E-09 |
|
phenotype | 0.100 | None | 1.000 | 6 | 2 | 2012 | 2017 | ||||||||
|
ATP binding cassette subfamily C member 9 | 0.552 | 0.692 | 9.4E-09 |
|
phenotype | 0.100 | None | 1.000 | 8 | 1 | 1999 | 2013 | ||||||||
|
aldehyde dehydrogenase 5 family member A1 | 0.619 | 0.462 | 3.1E-07 |
|
phenotype | 0.100 | None | 1.000 | 6 | 1 | 1994 | 2016 |