| 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. | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
kinesin family member 1A | 0.559 | 0.692 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2016 | 2016 | ||||||||
|
solute carrier family 35 member A2 | 0.525 | 0.808 | 0.72 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2019 | 2019 | ||||||||
|
G protein subunit beta 1 | 0.617 | 0.731 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 1 | 2 | 2016 | 2016 | ||||||||
|
VPS11 core subunit of CORVET and HOPS complexes | 0.633 | 0.654 | 1.9E-05 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase | 0.610 | 0.808 | 3.6E-19 |
|
phenotype | 0.100 | None | 0 | 3 | |||||||||||
|
phosphatase and tensin homolog | 0.305 | 0.923 | 0.26 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
glutaminyl-tRNA synthetase 1 | 0.716 | 0.231 | 2.7E-13 |
|
phenotype | 0.100 | None | 0 | 2 | |||||||||||
|
calcium voltage-gated channel subunit alpha1 C | 0.510 | 0.846 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
ALG13 UDP-N-acetylglucosaminyltransferase subunit | 0.631 | 0.577 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
ubiquitin like modifier activating enzyme 5 | 0.582 | 0.731 | 2.5E-04 |
|
phenotype | 0.100 | None | 0 | 2 | |||||||||||
|
NPHP3-ACAD11 readthrough (NMD candidate) | 0.663 | 0.577 |
|
phenotype | 0.100 | None | 0 | 2 | ||||||||||||
|
Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase | 0.656 | 0.423 | 1.6E-08 |
|
phenotype | 0.100 | None | 0 | 2 | |||||||||||
|
nucleus accumbens associated 1 | 0.610 | 0.577 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
spermatogenesis associated 5 | 0.670 | 0.654 | 9.1E-20 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
dual specificity tyrosine phosphorylation regulated kinase 1A | 0.533 | 0.769 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
zinc finger protein 292 | 0.695 | 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 | 0 | 1 | |||||||||||
|
glutamate ionotropic receptor NMDA type subunit 2B | 0.510 | 0.692 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
H3.3 histone A | 0.559 | 0.692 | 0.12 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
potassium voltage-gated channel subfamily Q member 2 | 0.537 | 0.654 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
phosphatidylinositol glycan anchor biosynthesis class Q | 0.610 | 0.577 | 1.4E-06 |
|
phenotype | 0.100 | None | 0 | 1 |