| 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. | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
GATA zinc finger domain containing 2B | 0.593 | 0.654 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 4 | 1 | 2012 | 2016 | ||||||||
|
phenylalanine hydroxylase | 0.516 | 0.769 | 6.4E-23 |
|
phenotype | 0.100 | None | 1.000 | 17 | 2 | 1993 | 2015 | ||||||||
|
usherin | 0.579 | 0.692 | 1.6E-94 |
|
phenotype | 0.100 | None | 1.000 | 15 | 2 | 2000 | 2015 | ||||||||
|
phosphatase and tensin homolog | 0.305 | 0.923 | 0.26 |
|
phenotype | 0.100 | None | 1.000 | 14 | 3 | 2001 | 2015 | ||||||||
|
H3.3 histone A | 0.559 | 0.692 | 0.12 |
|
phenotype | 0.100 | None | 1.000 | 12 | 1 | 1997 | 2015 | ||||||||
|
arginine vasopressin receptor 2 | 0.568 | 0.769 | 0.56 |
|
phenotype | 0.100 | None | 1.000 | 9 | 1 | 1999 | 2015 | ||||||||
|
mitogen-activated protein kinase kinase kinase 1 | 0.538 | 0.731 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 5 | 1 | 2003 | 2015 | ||||||||
|
sodium voltage-gated channel alpha subunit 1 | 0.477 | 0.808 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 19 | 1 | 1997 | 2014 | ||||||||
|
NHS actin remodeling regulator | 0.466 | 0.846 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 7 | 1 | 2002 | 2014 | ||||||||
|
protein kinase domain containing, cytoplasmic | 0.821 | 0.154 | 2.1E-05 |
|
phenotype | 0.100 | None | 1.000 | 5 | 1 | 2009 | 2014 | ||||||||
|
neuroligin 3 | 0.653 | 0.462 | 0.98 |
|
phenotype | 0.100 | None | 1.000 | 4 | 1 | 2003 | 2014 | ||||||||
|
transmembrane and coiled-coil domains 1 | 0.588 | 0.654 | 9.4E-10 |
|
phenotype | 0.100 | None | 1.000 | 4 | 2 | 2010 | 2014 | ||||||||
|
Bardet-Biedl syndrome 10 | 0.644 | 0.538 | 1.7E-12 |
|
phenotype | 0.100 | None | 1.000 | 17 | 4 | 1999 | 2013 | ||||||||
|
aldehyde dehydrogenase 7 family member A1 | 0.551 | 0.769 | 1.4E-22 |
|
phenotype | 0.100 | None | 1.000 | 9 | 1 | 1996 | 2013 | ||||||||
|
ATP binding cassette subfamily C member 9 | 0.552 | 0.692 | 9.4E-09 |
|
phenotype | 0.100 | None | 1.000 | 8 | 1 | 1999 | 2013 | ||||||||
|
myosin binding protein C3 | 0.593 | 0.385 | 8.0E-11 |
|
phenotype | 0.100 | None | 1.000 | 7 | 1 | 1995 | 2013 | ||||||||
|
dynein axonemal heavy chain 5 | 0.590 | 0.692 | 4.9E-64 |
|
phenotype | 0.100 | None | 1.000 | 6 | 1 | 2002 | 2013 | ||||||||
|
BRCA2 DNA repair associated | 0.379 | 0.846 | 2.4E-25 |
|
phenotype | 0.100 | None | 1.000 | 6 | 1 | 2005 | 2013 | ||||||||
|
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 | ||||||||
|
Bardet-Biedl syndrome 2 | 0.565 | 0.654 | 1.0E-17 |
|
phenotype | 0.100 | None | 1.000 | 3 | 1 | 2007 | 2013 | ||||||||
|
myosin VIIA | 0.585 | 0.423 | 1.6E-38 |
|
phenotype | 0.100 | None | 1.000 | 13 | 2 | 1995 | 2011 | ||||||||
|
hexosaminidase subunit alpha | 0.633 | 0.615 | 1.3E-11 |
|
phenotype | 0.100 | None | 1.000 | 11 | 1 | 1986 | 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 | ||||||||
|
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 |