| 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. | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
ASXL transcriptional regulator 2 | 0.617 | 0.692 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
G protein subunit alpha q | 0.516 | 0.808 | 0.98 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
glypican 3 | 0.466 | 0.808 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
FGF1 intracellular binding protein | 0.674 | 0.538 | 4.4E-06 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
embryonic ectoderm development | 0.588 | 0.615 | 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 | |||||||||||
|
filaggrin | 0.525 | 0.846 | 2.9E-04 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2006 | 2006 | ||||||||
|
FLG antisense RNA 1 | 0.700 | 0.538 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2006 | 2006 | |||||||||
|
PMS1 homolog 2, mismatch repair system component | 0.484 | 0.808 | 4.5E-27 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2007 | 2007 | ||||||||
|
bromodomain and PHD finger containing 1 | 0.686 | 0.385 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 2 | 1 | 2017 | 2017 | ||||||||
|
Bardet-Biedl syndrome 2 | 0.565 | 0.654 | 1.0E-17 |
|
phenotype | 0.100 | None | 1.000 | 3 | 1 | 2007 | 2013 | ||||||||
|
neuroligin 3 | 0.653 | 0.462 | 0.98 |
|
phenotype | 0.100 | None | 1.000 | 4 | 1 | 2003 | 2014 | ||||||||
|
succinate dehydrogenase complex flavoprotein subunit A | 0.517 | 0.731 | 2.6E-10 |
|
phenotype | 0.100 | None | 1.000 | 4 | 1 | 2010 | 2017 | ||||||||
|
GATA zinc finger domain containing 2B | 0.593 | 0.654 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 4 | 1 | 2012 | 2016 | ||||||||
|
paired like homeobox 2B | 0.565 | 0.731 | 0.94 |
|
phenotype | 0.100 | None | 1.000 | 4 | 1 | 2003 | 2017 | ||||||||
|
transmembrane and coiled-coil domains 1 | 0.588 | 0.654 | 9.4E-10 |
|
phenotype | 0.100 | None | 1.000 | 4 | 2 | 2010 | 2014 | ||||||||
|
mitogen-activated protein kinase kinase kinase 1 | 0.538 | 0.731 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 5 | 1 | 2003 | 2015 | ||||||||
|
protein kinase domain containing, cytoplasmic | 0.821 | 0.154 | 2.1E-05 |
|
phenotype | 0.100 | None | 1.000 | 5 | 1 | 2009 | 2014 | ||||||||
|
adenosylhomocysteinase | 0.582 | 0.692 | 3.6E-02 |
|
phenotype | 0.100 | None | 1.000 | 5 | 1 | 2006 | 2016 | ||||||||
|
McKusick-Kaufman syndrome | 0.566 | 0.692 | 2.1E-09 |
|
phenotype | 0.100 | None | 1.000 | 5 | 1 | 1999 | 2016 | ||||||||
|
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 | ||||||||
|
glucokinase | 0.523 | 0.808 | 0.63 |
|
phenotype | 0.100 | None | 1.000 | 5 | 1 | 2004 | 2016 | ||||||||
|
BRCA2 DNA repair associated | 0.379 | 0.846 | 2.4E-25 |
|
phenotype | 0.100 | None | 1.000 | 6 | 1 | 2005 | 2013 | ||||||||
|
brain derived neurotrophic factor | 0.345 | 0.923 | 0.66 |
|
phenotype | 0.100 | None | 1.000 | 6 | 1 | 2001 | 2018 | ||||||||
|
aldehyde dehydrogenase 5 family member A1 | 0.619 | 0.462 | 3.1E-07 |
|
phenotype | 0.100 | None | 1.000 | 6 | 1 | 1994 | 2016 |