| 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. | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
contactin associated protein 1 | 0.554 | 0.577 | 3.4E-05 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2017 | 2017 | ||||||||
|
leucine zipper like transcription regulator 1 | 0.547 | 0.808 | 1.0E-92 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2018 | 2018 | ||||||||
|
ASXL transcriptional regulator 3 | 0.590 | 0.577 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2016 | 2016 | ||||||||
|
X-ray repair cross complementing 4 | 0.528 | 0.769 | 8.3E-07 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2014 | 2014 | ||||||||
|
P2RX5-TAX1BP3 readthrough (NMD candidate) | 0.588 | 0.769 |
|
phenotype | 0.100 | None | 0 | 1 | ||||||||||||
|
stromal interaction molecule 1 | 0.501 | 0.808 | 0.78 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
cyclin dependent kinase like 5 | 0.522 | 0.692 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
transcription factor AP-2 beta | 0.570 | 0.769 | 0.99 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
rogdi atypical leucine zipper | 0.663 | 0.462 | 2.6E-09 |
|
phenotype | 0.100 | None | 0 | 2 | |||||||||||
|
euchromatic histone lysine methyltransferase 1 | 0.460 | 0.808 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
synaptic Ras GTPase activating protein 1 | 0.584 | 0.577 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
pleckstrin homology domain interacting protein | 0.595 | 0.769 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
peroxisomal biogenesis factor 6 | 0.547 | 0.731 | 6.3E-06 |
|
phenotype | 0.100 | None | 0 | 2 | |||||||||||
|
nucleus accumbens associated 1 | 0.610 | 0.577 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
collagen type II alpha 1 chain | 0.444 | 0.846 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
vacuolar protein sorting 13 homolog B | 0.579 | 0.769 | 2.5E-45 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
jagged canonical Notch ligand 1 | 0.429 | 0.808 | 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 | |||||||||||
|
endoglin | 0.446 | 0.846 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
ankyrin repeat domain 11 | 0.556 | 0.808 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
Tax1 binding protein 3 | 0.716 | 0.615 | 5.2E-03 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
heterogeneous nuclear ribonucleoprotein K | 0.539 | 0.846 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
peroxisomal biogenesis factor 1 | 0.538 | 0.769 | 1.1E-14 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
thyroid hormone receptor interactor 12 | 0.678 | 0.462 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 |