| 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. | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
NPHP3-ACAD11 readthrough (NMD candidate) | 0.663 | 0.577 |
|
phenotype | 0.100 | None | 0 | 3 | ||||||||||||
|
G protein subunit beta 1 | 0.617 | 0.731 | 1.00 |
|
phenotype | 0.100 | None | 0 | 2 | |||||||||||
|
unc-80 homolog, NALCN channel complex subunit | 0.626 | 0.462 | 5.2E-02 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
calcium/calmodulin dependent protein kinase II beta | 0.626 | 0.538 | 0.74 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
myosin VA | 0.628 | 0.615 | 0.94 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
NPC intracellular cholesterol transporter 1 | 0.518 | 0.692 | 6.5E-06 |
|
phenotype | 0.100 | None | 0 | 2 | |||||||||||
|
calcium/calmodulin dependent protein kinase IV | 0.621 | 0.654 | 0.51 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
VPS11 core subunit of CORVET and HOPS complexes | 0.633 | 0.654 | 1.9E-05 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
retinoic acid receptor beta | 0.478 | 0.846 | 1.00 |
|
phenotype | 0.100 | None | 0 | 2 | |||||||||||
|
ubiquitin like modifier activating enzyme 5 | 0.582 | 0.731 | 2.5E-04 |
|
phenotype | 0.100 | None | 0 | 3 | |||||||||||
|
upstream binding transcription factor | 0.705 | 0.462 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
G protein subunit alpha o1 | 0.523 | 0.808 | 0.99 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
cytoplasmic FMR1 interacting protein 2 | 0.633 | 0.731 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
calcium/calmodulin dependent serine protein kinase | 0.538 | 0.808 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
eukaryotic translation initiation factor 2B subunit epsilon | 0.615 | 0.769 | 6.4E-02 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
SATB homeobox 2 | 0.503 | 0.769 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
cystatin B | 0.530 | 0.692 | 6.6E-03 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
Rho related BTB domain containing 2 | 0.631 | 0.615 | 1.3E-02 |
|
phenotype | 0.100 | None | 0 | 2 | |||||||||||
|
cyclin dependent kinase 13 | 0.606 | 0.692 | 0.91 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
zinc finger protein 292 | 0.695 | 0.423 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
enoyl-CoA hydratase, short chain 1 | 0.601 | 0.654 | 8.8E-04 |
|
phenotype | 0.100 | None | 0 | 2 | |||||||||||
|
methyl-CpG binding protein 2 | 0.414 | 0.846 | 0.89 |
|
phenotype | 0.130 | None | 1.000 | 0 | 1 | 2008 | 2011 | ||||||||
|
sepiapterin reductase | 0.631 | 0.654 | 4.3E-02 |
|
phenotype | 0.100 | None | 1.000 | 6 | 2 | 2001 | 2013 | ||||||||
|
glutaryl-CoA dehydrogenase | 0.691 | 0.385 | 4.9E-03 |
|
phenotype | 0.430 | None | 1.000 | 0 | 1 | 1995 | 2015 | ||||||||
|
thrombospondin type laminin G domain and EAR repeats | 0.736 | 0.385 | 2.4E-17 |
|
phenotype | 0.100 | None | 1.000 | 1 | 2 | 2016 | 2016 |