| 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. | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
sodium voltage-gated channel alpha subunit 9 | 0.543 | 0.615 | 4.8E-19 |
|
phenotype | 0.100 | None | 1.000 | 21 | 1 | 1995 | 2016 | ||||||||
|
myosin VIIA | 0.585 | 0.423 | 1.6E-38 |
|
phenotype | 0.100 | None | 1.000 | 13 | 2 | 1995 | 2011 | ||||||||
|
myosin binding protein C3 | 0.593 | 0.385 | 8.0E-11 |
|
phenotype | 0.100 | None | 1.000 | 7 | 1 | 1995 | 2013 | ||||||||
|
patched 1 | 0.398 | 0.885 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 13 | 2 | 1996 | 2016 | ||||||||
|
aldehyde dehydrogenase 7 family member A1 | 0.551 | 0.769 | 1.4E-22 |
|
phenotype | 0.100 | None | 1.000 | 9 | 1 | 1996 | 2013 | ||||||||
|
trio Rho guanine nucleotide exchange factor | 0.556 | 0.731 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 9 | 1 | 1996 | 2017 | ||||||||
|
sodium voltage-gated channel alpha subunit 1 | 0.477 | 0.808 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 19 | 1 | 1997 | 2014 | ||||||||
|
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 | ||||||||
|
platelet activating factor acetylhydrolase 1b regulatory subunit 1 | 0.504 | 0.769 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 6 | 1 | 1997 | 2017 | ||||||||
|
syntaxin binding protein 1 | 0.532 | 0.692 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 27 | 1 | 1998 | 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 | ||||||||
|
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 10 | 0.644 | 0.538 | 1.7E-12 |
|
phenotype | 0.100 | None | 1.000 | 17 | 4 | 1999 | 2013 | ||||||||
|
potassium voltage-gated channel subfamily H member 2 | 0.522 | 0.731 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 14 | 1 | 1999 | 2016 | ||||||||
|
arginine vasopressin receptor 2 | 0.568 | 0.769 | 0.56 |
|
phenotype | 0.100 | None | 1.000 | 9 | 1 | 1999 | 2015 | ||||||||
|
ATP binding cassette subfamily C member 9 | 0.552 | 0.692 | 9.4E-09 |
|
phenotype | 0.100 | None | 1.000 | 8 | 1 | 1999 | 2013 | ||||||||
|
McKusick-Kaufman syndrome | 0.566 | 0.692 | 2.1E-09 |
|
phenotype | 0.100 | None | 1.000 | 5 | 1 | 1999 | 2016 | ||||||||
|
usherin | 0.579 | 0.692 | 1.6E-94 |
|
phenotype | 0.100 | None | 1.000 | 15 | 2 | 2000 | 2015 | ||||||||
|
cullin 4B | 0.556 | 0.769 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 10 | 1 | 2000 | 2017 | ||||||||
|
phosphatase and tensin homolog | 0.305 | 0.923 | 0.26 |
|
phenotype | 0.100 | None | 1.000 | 14 | 3 | 2001 | 2015 | ||||||||
|
brain derived neurotrophic factor | 0.345 | 0.923 | 0.66 |
|
phenotype | 0.100 | None | 1.000 | 6 | 1 | 2001 | 2018 | ||||||||
|
BDNF antisense RNA | 0.638 | 0.538 |
|
phenotype | 0.100 | None | 1.000 | 6 | 1 | 2001 | 2018 | |||||||||
|
NHS actin remodeling regulator | 0.466 | 0.846 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 7 | 1 | 2002 | 2014 | ||||||||
|
dynein axonemal heavy chain 5 | 0.590 | 0.692 | 4.9E-64 |
|
phenotype | 0.100 | None | 1.000 | 6 | 1 | 2002 | 2013 |