| 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. | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
actin like 6B | 0.656 | 0.462 | 2.8E-04 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2019 | 2019 | ||||||||
|
OTU deubiquitinase 6B | 0.659 | 0.538 | 1.3E-07 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
protein arginine methyltransferase 7 | 0.674 | 0.538 | 5.5E-15 |
|
phenotype | 0.100 | None | 0 | 2 | |||||||||||
|
B-Raf proto-oncogene, serine/threonine kinase | 0.319 | 0.846 | 1.00 |
|
phenotype | 0.100 | None | 0 | 2 | |||||||||||
|
stromal interaction molecule 1 | 0.501 | 0.808 | 0.78 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
transcription factor 4 | 0.464 | 0.846 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
THO complex 6 | 0.705 | 0.577 | 4.8E-04 |
|
phenotype | 0.100 | None | 0 | 2 | |||||||||||
|
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 | |||||||||||
|
zinc finger RANBP2-type containing 3 | 0.780 | 0.577 | 4.2E-21 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
synaptic Ras GTPase activating protein 1 | 0.584 | 0.577 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
thyroid hormone receptor interactor 12 | 0.678 | 0.462 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
transmembrane protein 94 | 0.628 | 0.654 | 2.8E-14 |
|
phenotype | 0.100 | None | 0 | 2 | |||||||||||
|
NPHP3-ACAD11 readthrough (NMD candidate) | 0.663 | 0.577 |
|
phenotype | 0.100 | None | 0 | 2 | ||||||||||||
|
SBDS ribosome maturation factor | 0.601 | 0.692 | 6.2E-05 |
|
phenotype | 0.100 | None | 0 | 2 | |||||||||||
|
HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 | 0.534 | 0.769 | 1.00 |
|
phenotype | 0.100 | None | 0 | 11 | |||||||||||
|
solute carrier family 9 member A6 | 0.516 | 0.846 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
Snf2 related CREBBP activator protein | 0.610 | 0.731 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
ERCC excision repair 8, CSA ubiquitin ligase complex subunit | 0.551 | 0.885 | 2.8E-15 |
|
phenotype | 0.100 | None | 0 | 3 | |||||||||||
|
dual specificity tyrosine phosphorylation regulated kinase 1A | 0.533 | 0.769 | 1.00 |
|
phenotype | 0.100 | None | 0 | 9 | |||||||||||
|
fibrillin 1 | 0.417 | 0.846 | 1.00 |
|
phenotype | 0.100 | None | 0 | 2 | |||||||||||
|
fibrillin 2 | 0.505 | 0.808 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
RAB3 GTPase activating protein catalytic subunit 1 | 0.566 | 0.692 | 1.5E-07 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
mediator complex subunit 13L | 0.617 | 0.538 | 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 |