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. | ||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
protein kinase domain containing, cytoplasmic | 0.821 | 0.154 | 2.1E-05 |
|
phenotype | 0.100 | None | 1.000 | 5 | 1 | 2009 | 2014 | ||||||||
|
SCN1A and SCN9A antisense RNA 1 | 0.636 | 0.346 |
|
phenotype | 0.100 | None | 1.000 | 40 | 2 | 1995 | 2016 | |||||||||
|
SH3 and multiple ankyrin repeat domains 2 | 0.663 | 0.385 | 8.4E-07 |
|
phenotype | 0.100 | None | 1.000 | 12 | 1 | 2010 | 2017 | ||||||||
|
neurite extension and migration factor | 0.659 | 0.385 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 11 | 1 | 2004 | 2017 | ||||||||
|
myosin binding protein C3 | 0.593 | 0.385 | 8.0E-11 |
|
phenotype | 0.100 | None | 1.000 | 7 | 1 | 1995 | 2013 | ||||||||
|
bromodomain and PHD finger containing 1 | 0.686 | 0.385 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 2 | 1 | 2017 | 2017 | ||||||||
|
myosin VIIA | 0.585 | 0.423 | 1.6E-38 |
|
phenotype | 0.100 | None | 1.000 | 13 | 2 | 1995 | 2011 | ||||||||
|
WD repeat domain 45 | 0.647 | 0.423 | 0.99 |
|
phenotype | 0.100 | None | 1.000 | 10 | 1 | 2010 | 2017 | ||||||||
|
alsin Rho guanine nucleotide exchange factor ALS2 | 0.647 | 0.423 | 8.7E-12 |
|
phenotype | 0.100 | None | 1.000 | 7 | 1 | 1992 | 2017 | ||||||||
|
aldehyde dehydrogenase 5 family member A1 | 0.619 | 0.462 | 3.1E-07 |
|
phenotype | 0.100 | None | 1.000 | 6 | 1 | 1994 | 2016 | ||||||||
|
neuroligin 3 | 0.653 | 0.462 | 0.98 |
|
phenotype | 0.100 | None | 1.000 | 4 | 1 | 2003 | 2014 | ||||||||
|
Bardet-Biedl syndrome 10 | 0.644 | 0.538 | 1.7E-12 |
|
phenotype | 0.100 | None | 1.000 | 17 | 4 | 1999 | 2013 | ||||||||
|
mediator complex subunit 13L | 0.617 | 0.538 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 16 | 1 | 1971 | 2018 | ||||||||
|
lysine demethylase 5C | 0.581 | 0.538 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 12 | 1 | 2005 | 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 | |||||||||
|
FGF1 intracellular binding protein | 0.674 | 0.538 | 4.4E-06 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
chromodomain helicase DNA binding protein 8 | 0.656 | 0.577 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 13 | 2 | 2008 | 2017 | ||||||||
|
chromodomain helicase DNA binding protein 2 | 0.585 | 0.577 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 12 | 1 | 2007 | 2017 | ||||||||
|
gamma-aminobutyric acid type A receptor subunit alpha1 | 0.563 | 0.577 | 0.91 |
|
phenotype | 0.100 | None | 1.000 | 11 | 1 | 1997 | 2016 | ||||||||
|
sodium voltage-gated channel alpha subunit 9 | 0.543 | 0.615 | 4.8E-19 |
|
phenotype | 0.100 | None | 1.000 | 21 | 1 | 1995 | 2016 | ||||||||
|
ATPase Na+/K+ transporting subunit alpha 2 | 0.597 | 0.615 | 1.8E-04 |
|
phenotype | 0.100 | None | 1.000 | 12 | 1 | 1992 | 2017 | ||||||||
|
hexosaminidase subunit alpha | 0.633 | 0.615 | 1.3E-11 |
|
phenotype | 0.100 | None | 1.000 | 11 | 1 | 1986 | 2011 | ||||||||
|
DEAF1 transcription factor | 0.575 | 0.615 | 3.4E-04 |
|
phenotype | 0.100 | None | 1.000 | 10 | 1 | 2010 | 2017 | ||||||||
|
embryonic ectoderm development | 0.588 | 0.615 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 |