| 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. | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
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 | ||||||||
|
SCN1A and SCN9A antisense RNA 1 | 0.636 | 0.346 |
|
phenotype | 0.100 | None | 1.000 | 40 | 2 | 1995 | 2016 | |||||||||
|
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 | ||||||||
|
solute carrier family 2 member 1 | 0.388 | 0.808 | 0.99 |
|
phenotype | 0.100 | None | 1.000 | 21 | 1 | 1991 | 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 | ||||||||
|
BAF chromatin remodeling complex subunit BCL11B | 0.568 | 0.731 | 0.99 |
|
phenotype | 0.100 | None | 1.000 | 19 | 1 | 2003 | 2016 | ||||||||
|
methyl-CpG binding protein 2 | 0.414 | 0.846 | 0.89 |
|
phenotype | 0.100 | None | 1.000 | 19 | 1 | 1993 | 2016 | ||||||||
|
potassium voltage-gated channel subfamily H member 2 | 0.522 | 0.731 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 14 | 1 | 1999 | 2016 | ||||||||
|
patched 1 | 0.398 | 0.885 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 13 | 2 | 1996 | 2016 | ||||||||
|
lysine demethylase 5C | 0.581 | 0.538 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 12 | 1 | 2005 | 2016 | ||||||||
|
gamma-aminobutyric acid type A receptor subunit alpha1 | 0.563 | 0.577 | 0.91 |
|
phenotype | 0.100 | None | 1.000 | 11 | 1 | 1997 | 2016 | ||||||||
|
tubulin beta 3 class III | 0.486 | 0.808 | 2.6E-10 |
|
phenotype | 0.100 | None | 1.000 | 10 | 1 | 2010 | 2016 | ||||||||
|
retinoic acid induced 1 | 0.545 | 0.731 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 9 | 1 | 2004 | 2016 | ||||||||
|
potassium voltage-gated channel subfamily H member 1 | 0.542 | 0.731 | 0.55 |
|
phenotype | 0.100 | None | 1.000 | 8 | 1 | 1998 | 2016 | ||||||||
|
aldehyde dehydrogenase 5 family member A1 | 0.619 | 0.462 | 3.1E-07 |
|
phenotype | 0.100 | None | 1.000 | 6 | 1 | 1994 | 2016 | ||||||||
|
McKusick-Kaufman syndrome | 0.566 | 0.692 | 2.1E-09 |
|
phenotype | 0.100 | None | 1.000 | 5 | 1 | 1999 | 2016 | ||||||||
|
glucokinase | 0.523 | 0.808 | 0.63 |
|
phenotype | 0.100 | None | 1.000 | 5 | 1 | 2004 | 2016 | ||||||||
|
adenosylhomocysteinase | 0.582 | 0.692 | 3.6E-02 |
|
phenotype | 0.100 | None | 1.000 | 5 | 1 | 2006 | 2016 | ||||||||
|
GATA zinc finger domain containing 2B | 0.593 | 0.654 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 4 | 1 | 2012 | 2016 | ||||||||
|
potassium voltage-gated channel subfamily Q member 2 | 0.537 | 0.654 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 29 | 1 | 1980 | 2017 |