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. | ||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
FLG antisense RNA 1 | 0.700 | 0.538 |
|
phenotype | 0.100 | None | 0 | 1 | ||||||||||||
|
obscurin like cytoskeletal adaptor 1 | 0.686 | 0.308 | 1.0E-25 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2019 | 2019 | ||||||||
|
cullin 7 | 0.633 | 0.500 | 2.6E-21 |
|
phenotype | 0.100 | None | 1.000 | 1 | 3 | 2019 | 2019 | ||||||||
|
myosin heavy chain 3 | 0.563 | 0.654 | 6.7E-21 |
|
phenotype | 0.100 | None | 0 | 4 | |||||||||||
|
spermatogenesis associated 5 | 0.670 | 0.654 | 9.1E-20 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
kynureninase | 0.617 | 0.692 | 4.2E-18 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2017 | 2017 | ||||||||
|
centrosomal protein 120 | 0.564 | 0.731 | 4.1E-15 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
filaggrin | 0.525 | 0.846 | 2.9E-04 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
transmembrane protein 256 | 0.861 | 0.154 | 6.1E-04 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
KRAS proto-oncogene, GTPase | 0.320 | 0.923 | 7.9E-04 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
kinesin light chain 4 | 0.743 | 0.308 | 1.2E-03 |
|
phenotype | 0.100 | None | 1.000 | 1 | 2 | 2019 | 2019 | ||||||||
|
TMEM256-PLSCR3 readthrough (NMD candidate) | 0.861 | 0.154 | 5.9E-03 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
HRas proto-oncogene, GTPase | 0.378 | 0.885 | 8.0E-02 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
exocyst complex component 6B | 0.682 | 0.577 | 0.12 |
|
phenotype | 0.100 | None | 1.000 | 2 | 1 | 2013 | 2014 | ||||||||
|
Ras like without CAAX 1 | 0.527 | 0.808 | 0.13 |
|
phenotype | 0.100 | None | 0 | 2 | |||||||||||
|
transcription factor AP-2 alpha | 0.488 | 0.769 | 0.99 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
T-box transcription factor 2 | 0.544 | 0.769 | 0.99 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
fibroblast growth factor receptor 2 | 0.380 | 0.808 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
nucleus accumbens associated 1 | 0.610 | 0.577 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
collagen type VI alpha 1 chain | 0.587 | 0.731 | 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 | 0 | 1 | |||||||||||
|
protein tyrosine phosphatase non-receptor type 11 | 0.385 | 0.923 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 | 0.534 | 0.769 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
chromodomain helicase DNA binding protein 7 | 0.441 | 0.846 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
SOS Ras/Rac guanine nucleotide exchange factor 1 | 0.485 | 0.808 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 |