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. | ||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
glutamate ionotropic receptor NMDA type subunit 1 | 0.561 | 0.692 | 0.98 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
glutamate ionotropic receptor NMDA type subunit 2B | 0.510 | 0.692 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
glutaryl-CoA dehydrogenase | 0.691 | 0.385 | 4.9E-03 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
heparan-alpha-glucosaminide N-acetyltransferase | 0.628 | 0.577 | 6.3E-08 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
hepatic and glial cell adhesion molecule | 0.621 | 0.500 | 0.87 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
HRas proto-oncogene, GTPase | 0.378 | 0.885 | 8.0E-02 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
kinesin family member 7 | 0.528 | 0.731 | 2.3E-22 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
lysine methyltransferase 2E | 0.682 | 0.423 | 1.00 |
|
phenotype | 0.100 | None | 0 | 2 | |||||||||||
|
lysine methyltransferase 5B | 0.736 | 0.423 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
mechanistic target of rapamycin kinase | 0.343 | 0.885 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 1 | 2 | 2016 | 2016 | ||||||||
|
MEFV innate immuity regulator, pyrin | 0.440 | 0.885 | 1.0E-14 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
modulator of VRAC current 1 | 0.585 | 0.769 | 3.2E-08 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
N-acetylglucosamine-1-phosphate transferase subunits alpha and beta | 0.592 | 0.731 | 7.7E-19 |
|
phenotype | 0.100 | None | 1.000 | 3 | 1 | 2006 | 2014 | ||||||||
|
neurofibromin 1 | 0.440 | 0.885 | 0.90 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
NPHS1 adhesion molecule, nephrin | 0.597 | 0.615 | 2.5E-14 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
nuclear factor I A | 0.599 | 0.808 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
nuclear factor I B | 0.573 | 0.654 | 1.00 |
|
phenotype | 0.100 | None | 0 | 7 | |||||||||||
|
nuclear receptor binding SET domain protein 1 | 0.505 | 0.769 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 1 | 2 | 2016 | 2016 | ||||||||
|
phosphatase and tensin homolog | 0.305 | 0.923 | 0.26 |
|
phenotype | 0.100 | None | 1.000 | 2 | 34 | 2012 | 2012 | ||||||||
|
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | 0.292 | 0.923 | 1.00 |
|
phenotype | 0.100 | None | 0 | 2 | |||||||||||
|
PMS1 homolog 2, mismatch repair system component | 0.484 | 0.808 | 4.5E-27 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2007 | 2007 | ||||||||
|
protein phosphatase 2 regulatory subunit B'delta | 0.722 | 0.462 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
protein phosphatase 2 scaffold subunit Aalpha | 0.588 | 0.577 | 0.98 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
protein tyrosine phosphatase non-receptor type 11 | 0.385 | 0.923 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 4 | 1 | 2004 | 2006 | ||||||||
|
Ras and Rab interactor 2 | 0.623 | 0.692 | 8.1E-04 |
|
phenotype | 0.100 | None | 0 | 1 |