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. | ||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
ALG8 alpha-1,3-glucosyltransferase | 0.659 | 0.577 | 1.2E-08 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
ankyrin repeat domain 11 | 0.556 | 0.808 | 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 | |||||||||||
|
ASXL transcriptional regulator 1 | 0.482 | 0.808 | 1.3E-14 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
ASXL transcriptional regulator 2 | 0.617 | 0.692 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
ATP synthase F0 subunit 6 | 0.541 | 0.731 |
|
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 | |||||||||||
|
B-Raf proto-oncogene, serine/threonine kinase | 0.319 | 0.846 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 2 | 4 | 2006 | 2006 | ||||||||
|
cyclin dependent kinase 13 | 0.606 | 0.692 | 0.91 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2017 | 2017 | ||||||||
|
chromodomain helicase DNA binding protein 7 | 0.441 | 0.846 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
contactin associated protein 1 | 0.554 | 0.577 | 3.4E-05 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2017 | 2017 | ||||||||
|
collagen type XI alpha 1 chain | 0.495 | 0.846 | 1.00 |
|
phenotype | 0.100 | None | 0 | 2 | |||||||||||
|
collagen type I alpha 1 chain | 0.430 | 0.808 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
DEAD-box helicase 3 X-linked | 0.537 | 0.769 | 1.00 |
|
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 | |||||||||||
|
embryonic ectoderm development | 0.588 | 0.615 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
elastin | 0.415 | 0.885 | 2.1E-14 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
elongator acetyltransferase complex subunit 4 | 0.666 | 0.462 | 1.2E-07 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
fibroblast growth factor 14 | 0.619 | 0.692 | 0.91 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
fibroblast growth factor receptor 2 | 0.380 | 0.808 | 1.00 |
|
phenotype | 0.100 | None | 0 | 3 | |||||||||||
|
GATA binding protein 6 | 0.478 | 0.808 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
GATA zinc finger domain containing 2B | 0.593 | 0.654 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
GLI family zinc finger 3 | 0.436 | 0.846 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
H3.3 histone A | 0.559 | 0.692 | 0.12 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 | 0.674 | 0.500 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2016 | 2016 |