| 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. | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
HEAT repeat containing 4 | 1.4E-29 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||||
|
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | 0.292 | 0.923 | 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 | ||||||||
|
lysine methyltransferase 2A | 0.410 | 0.885 | 1.00 |
|
phenotype | 0.100 | None | 0 | 3 | |||||||||||
|
methyl-CpG binding protein 2 | 0.414 | 0.846 | 0.89 |
|
phenotype | 0.100 | None | 0 | 3 | |||||||||||
|
CREB binding protein | 0.428 | 0.808 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
collagen type I alpha 1 chain | 0.430 | 0.808 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
MEFV innate immuity regulator, pyrin | 0.440 | 0.885 | 1.0E-14 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
gap junction protein beta 2 | 0.441 | 0.846 | 6.6E-16 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
chromodomain helicase DNA binding protein 7 | 0.441 | 0.846 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
galactosidase beta 1 | 0.448 | 0.808 | 7.9E-10 |
|
phenotype | 0.100 | None | 0 | 2 | |||||||||||
|
ATRX chromatin remodeler | 0.452 | 0.808 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
survival of motor neuron 1, telomeric | 0.454 | 0.769 | 1.6E-02 |
|
phenotype | 0.100 | None | 1.000 | 2 | 2 | 2007 | 2013 | ||||||||
|
AT-rich interaction domain 1A | 0.455 | 0.846 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
survival of motor neuron 2, centromeric | 0.459 | 0.769 | 0.10 |
|
phenotype | 0.100 | None | 1.000 | 2 | 2 | 2007 | 2013 | ||||||||
|
ATP binding cassette subfamily C member 8 | 0.474 | 0.846 | 8.0E-24 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
phospholipase A2 group VI | 0.476 | 0.846 | 2.5E-10 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
sodium voltage-gated channel alpha subunit 1 | 0.477 | 0.808 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
potassium voltage-gated channel subfamily Q member 1 | 0.485 | 0.769 | 4.5E-08 |
|
phenotype | 0.100 | None | 0 | 2 | |||||||||||
|
calcium voltage-gated channel subunit alpha1 A | 0.489 | 0.769 | 1.00 |
|
phenotype | 0.100 | None | 0 | 2 | |||||||||||
|
ATPase copper transporting alpha | 0.494 | 0.769 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
SRY-box transcription factor 11 | 0.494 | 0.808 | 0.86 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
SATB homeobox 2 | 0.503 | 0.769 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
AT-rich interaction domain 1B | 0.503 | 0.846 | 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 | 2 |