| 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. | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
hexosaminidase subunit alpha | 0.633 | 0.615 | 1.3E-11 |
|
phenotype | 0.100 | None | 1.000 | 4 | 5 | 1992 | 2014 | ||||||||
|
DDB1 and CUL4 associated factor 17 | 0.653 | 0.577 | 3.7E-07 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2016 | 2016 | ||||||||
|
potassium voltage-gated channel subfamily Q member 1 | 0.485 | 0.769 | 4.5E-08 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2017 | 2017 | ||||||||
|
potassium voltage-gated channel subfamily Q member 4 | 0.674 | 0.462 | 0.47 |
|
phenotype | 0.170 | None | 1.000 | 0 | 1 | 1999 | 2017 | ||||||||
|
paired box 3 | 0.481 | 0.769 | 0.24 |
|
phenotype | 0.110 | None | 1.000 | 0 | 1 | 2016 | 2016 | ||||||||
|
melanocyte inducing transcription factor | 0.499 | 0.808 | 0.98 |
|
phenotype | 0.100 | None | 0 | 4 | |||||||||||
|
methyl-CpG binding protein 2 | 0.414 | 0.846 | 0.89 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
chromosome 10 open reading frame 105 | 0.861 | 0.231 | 8.4E-02 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
photoreceptor cilium actin regulator | 0.674 | 0.346 | 3.0E-18 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
potassium voltage-gated channel subfamily E regulatory subunit 1 | 0.588 | 0.615 | 3.4E-03 |
|
phenotype | 0.110 | None | 1.000 | 0 | 3 | 2017 | 2017 | ||||||||
|
protein tyrosine phosphatase receptor type Q | 0.751 | 0.462 | 4.2E-21 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
heterogeneous nuclear ribonucleoprotein K | 0.539 | 0.846 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
HIVEP zinc finger 1 | 0.711 | 0.500 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
ankyrin repeat domain 11 | 0.556 | 0.808 | 1.00 |
|
phenotype | 0.100 | None | 0 | 2 | |||||||||||
|
SLC26A4 antisense RNA 1 | 0.861 | 0.269 |
|
phenotype | 0.100 | None | 0 | 5 | ||||||||||||
|
otogelin like | 0.805 | 0.269 | 4.7E-52 |
|
phenotype | 0.120 | None | 1.000 | 0 | 1 | 2013 | 2019 | ||||||||
|
pyruvate dehydrogenase E1 subunit alpha 1 | 0.581 | 0.538 | 0.99 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
peroxisomal biogenesis factor 1 | 0.538 | 0.769 | 1.1E-14 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
peroxisomal biogenesis factor 11 beta | 0.612 | 0.654 | 1.3E-04 |
|
phenotype | 0.100 | None | 0 | 2 | |||||||||||
|
espin | 0.700 | 0.385 | 2.9E-09 |
|
phenotype | 0.120 | None | 1.000 | 0 | 1 | 2006 | 2008 | ||||||||
|
euchromatic histone lysine methyltransferase 1 | 0.460 | 0.808 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
partner and localizer of BRCA2 | 0.485 | 0.769 | 3.0E-19 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
ALMS1 centrosome and basal body associated protein | 0.559 | 0.808 | 4.5E-60 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
SRY-box transcription factor 10 | 0.461 | 0.808 | 0.99 |
|
phenotype | 0.110 | None | 1.000 | 0 | 1 | 2015 | 2015 | ||||||||
|
N-sulfoglucosamine sulfohydrolase | 0.638 | 0.692 | 1.0E-04 |
|
phenotype | 0.100 | None | 0 | 1 |