| 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. | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
fibrillin 1 | 0.417 | 0.846 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 29 | 2 | 1986 | 2016 | ||||||||
|
syntaxin binding protein 1 | 0.532 | 0.692 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 27 | 1 | 1998 | 2016 | ||||||||
|
lysine methyltransferase 2D | 0.465 | 0.808 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 25 | 1 | 1988 | 2017 | ||||||||
|
lysine methyltransferase 2A | 0.410 | 0.885 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 22 | 1 | 1989 | 2017 | ||||||||
|
sodium voltage-gated channel alpha subunit 1 | 0.477 | 0.808 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 19 | 1 | 1997 | 2014 | ||||||||
|
mediator complex subunit 13L | 0.617 | 0.538 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 16 | 1 | 1971 | 2018 | ||||||||
|
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 | ||||||||
|
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 | ||||||||
|
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 | ||||||||
|
lysine demethylase 5C | 0.581 | 0.538 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 12 | 1 | 2005 | 2016 | ||||||||
|
cullin 4B | 0.556 | 0.769 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 10 | 1 | 2000 | 2017 | ||||||||
|
retinoic acid induced 1 | 0.545 | 0.731 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 9 | 1 | 2004 | 2016 | ||||||||
|
trio Rho guanine nucleotide exchange factor | 0.556 | 0.731 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 9 | 1 | 1996 | 2017 | ||||||||
|
enhancer of zeste 2 polycomb repressive complex 2 subunit | 0.376 | 0.885 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 5 | 1 | 1998 | 2013 | ||||||||
|
bromodomain and PHD finger containing 1 | 0.686 | 0.385 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 2 | 1 | 2017 | 2017 | ||||||||
|
ASXL transcriptional regulator 2 | 0.617 | 0.692 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
nuclear receptor binding SET domain protein 1 | 0.505 | 0.769 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
catenin beta 1 | 0.303 | 0.885 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 22 | 1 | 1991 | 2017 | ||||||||
|
NHS actin remodeling regulator | 0.466 | 0.846 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 7 | 1 | 2002 | 2014 | ||||||||
|
potassium voltage-gated channel subfamily Q member 2 | 0.537 | 0.654 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 29 | 1 | 1980 | 2017 | ||||||||
|
mitogen-activated protein kinase kinase kinase 1 | 0.538 | 0.731 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 5 | 1 | 2003 | 2015 | ||||||||
|
GATA zinc finger domain containing 2B | 0.593 | 0.654 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 4 | 1 | 2012 | 2016 | ||||||||
|
platelet activating factor acetylhydrolase 1b regulatory subunit 1 | 0.504 | 0.769 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 6 | 1 | 1997 | 2017 |