| 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. | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | 0.292 | 0.923 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 14 | 3 | 2006 | 2018 | ||||||||
|
phosphatase and tensin homolog | 0.305 | 0.923 | 0.26 |
|
phenotype | 0.100 | None | 1.000 | 14 | 3 | 2001 | 2015 | ||||||||
|
potassium voltage-gated channel subfamily H member 2 | 0.522 | 0.731 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 14 | 1 | 1999 | 2016 | ||||||||
|
cyclin D2 | 0.477 | 0.808 | 0.99 |
|
phenotype | 0.100 | None | 1.000 | 13 | 1 | 2004 | 2018 | ||||||||
|
heterogeneous nuclear ribonucleoprotein U | 0.575 | 0.654 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 13 | 1 | 2010 | 2017 | ||||||||
|
patched 1 | 0.398 | 0.885 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 13 | 2 | 1996 | 2016 | ||||||||
|
myosin VIIA | 0.585 | 0.423 | 1.6E-38 |
|
phenotype | 0.100 | None | 1.000 | 13 | 2 | 1995 | 2011 | ||||||||
|
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 | ||||||||
|
SH3 and multiple ankyrin repeat domains 2 | 0.663 | 0.385 | 8.4E-07 |
|
phenotype | 0.100 | None | 1.000 | 12 | 1 | 2010 | 2017 | ||||||||
|
lysine demethylase 5C | 0.581 | 0.538 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 12 | 1 | 2005 | 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 | ||||||||
|
MEFV innate immuity regulator, pyrin | 0.440 | 0.885 | 1.0E-14 |
|
phenotype | 0.100 | None | 1.000 | 12 | 1 | 1967 | 2017 | ||||||||
|
H3.3 histone A | 0.559 | 0.692 | 0.12 |
|
phenotype | 0.100 | None | 1.000 | 12 | 1 | 1997 | 2015 | ||||||||
|
gamma-aminobutyric acid type A receptor subunit alpha1 | 0.563 | 0.577 | 0.91 |
|
phenotype | 0.100 | None | 1.000 | 11 | 1 | 1997 | 2016 | ||||||||
|
neurite extension and migration factor | 0.659 | 0.385 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 11 | 1 | 2004 | 2017 | ||||||||
|
hexosaminidase subunit alpha | 0.633 | 0.615 | 1.3E-11 |
|
phenotype | 0.100 | None | 1.000 | 11 | 1 | 1986 | 2011 | ||||||||
|
tubulin beta 3 class III | 0.486 | 0.808 | 2.6E-10 |
|
phenotype | 0.100 | None | 1.000 | 10 | 1 | 2010 | 2016 | ||||||||
|
DEAF1 transcription factor | 0.575 | 0.615 | 3.4E-04 |
|
phenotype | 0.100 | None | 1.000 | 10 | 1 | 2010 | 2017 | ||||||||
|
WD repeat domain 45 | 0.647 | 0.423 | 0.99 |
|
phenotype | 0.100 | None | 1.000 | 10 | 1 | 2010 | 2017 | ||||||||
|
GNAS complex locus | 0.420 | 0.885 | 0.68 |
|
phenotype | 0.100 | None | 1.000 | 10 | 1 | 1993 | 2017 | ||||||||
|
cullin 4B | 0.556 | 0.769 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 10 | 1 | 2000 | 2017 | ||||||||
|
trio Rho guanine nucleotide exchange factor | 0.556 | 0.731 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 9 | 1 | 1996 | 2017 | ||||||||
|
retinoic acid induced 1 | 0.545 | 0.731 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 9 | 1 | 2004 | 2016 | ||||||||
|
arginine vasopressin receptor 2 | 0.568 | 0.769 | 0.56 |
|
phenotype | 0.100 | None | 1.000 | 9 | 1 | 1999 | 2015 |