| 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 4 | 0.554 | 0.731 | 1.3E-02 |
|
phenotype | 0.100 | None | 1.000 | 2 | 2 | 2004 | 2008 | ||||||||
|
cyclin dependent kinase 13 | 0.606 | 0.692 | 0.91 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2017 | 2017 | ||||||||
|
ASXL transcriptional regulator 3 | 0.590 | 0.577 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2016 | 2016 | ||||||||
|
smoothened, frizzled class receptor | 0.489 | 0.731 | 4.3E-07 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
SPG7 matrix AAA peptidase subunit, paraplegin | 0.436 | 0.885 | 2.0E-36 |
|
phenotype | 0.100 | None | 0 | 2 | |||||||||||
|
stromal interaction molecule 1 | 0.501 | 0.808 | 0.78 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
T-box transcription factor 2 | 0.544 | 0.769 | 0.99 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
calcium voltage-gated channel subunit alpha1 A | 0.489 | 0.769 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
ubiquitin specific peptidase 7 | 0.538 | 0.808 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
fatty acid 2-hydroxylase | 0.573 | 0.654 | 0.15 |
|
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 | |||||||||||
|
tripartite motif containing 8 | 0.588 | 0.731 | 0.99 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
embryonic ectoderm development | 0.588 | 0.615 | 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 | |||||||||||
|
thyroid hormone receptor interactor 11 | 0.595 | 0.654 | 1.7E-12 |
|
phenotype | 0.100 | None | 0 | 2 | |||||||||||
|
NPHP3-ACAD11 readthrough (NMD candidate) | 0.663 | 0.577 |
|
phenotype | 0.100 | None | 0 | 2 | ||||||||||||
|
interferon regulatory factor 2 binding protein like | 0.631 | 0.462 | 0.84 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
sodium voltage-gated channel alpha subunit 2 | 0.518 | 0.731 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
spermatogenesis associated 5 | 0.670 | 0.654 | 9.1E-20 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
jagged canonical Notch ligand 1 | 0.429 | 0.808 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
fibrillin 1 | 0.417 | 0.846 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
activator of transcription and developmental regulator AUTS2 | 0.569 | 0.846 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
heterogeneous nuclear ribonucleoprotein K | 0.539 | 0.846 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
myosin binding protein C1 | 0.666 | 0.462 | 4.8E-05 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
WW domain containing adaptor with coiled-coil | 0.686 | 0.615 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 |