| 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. | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
aprataxin | 0.590 | 0.500 | 4.0E-10 |
|
phenotype | 0.200 | None | 0.958 | 1 | 2 | 2000 | 2018 | ||||||||
|
aquaporin 4 | 0.456 | 0.885 | 2.3E-03 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
AQP4 antisense RNA 1 | 0.751 | 0.577 |
|
phenotype | 0.100 | None | 0 | 1 | ||||||||||||
|
ATM serine/threonine kinase | 0.374 | 0.885 | 5.6E-47 |
|
phenotype | 0.200 | None | 1.000 | 0 | 1 | 1998 | 2020 | ||||||||
|
ATPase Na+/K+ transporting subunit alpha 3 | 0.544 | 0.615 | 1.00 |
|
phenotype | 0.200 | None | 1.000 | 0 | 1 | 2012 | 2019 | ||||||||
|
BR serine/threonine kinase 2 | 0.700 | 0.500 | 0.95 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2019 | 2019 | ||||||||
|
carbonic anhydrase 8 | 0.595 | 0.654 | 8.3E-03 |
|
phenotype | 0.170 | None | 1.000 | 0 | 1 | 2010 | 2019 | ||||||||
|
calcium voltage-gated channel subunit alpha1 A | 0.489 | 0.769 | 1.00 |
|
phenotype | 0.400 | None | 1.000 | 0 | 3 | 1997 | 2019 | ||||||||
|
calcium/calmodulin dependent protein kinase IV | 0.621 | 0.654 | 0.51 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
CDKN1A interacting zinc finger protein 1 | 0.617 | 0.500 | 6.3E-02 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
DEAF1 transcription factor | 0.575 | 0.615 | 3.4E-04 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2017 | 2017 | ||||||||
|
discs large MAGUK scaffold protein 3 | 0.544 | 0.615 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
dynamin 1 | 0.595 | 0.692 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
EBF transcription factor 3 | 0.595 | 0.731 | 1.00 |
|
phenotype | 0.110 | None | 1.000 | 1 | 1 | 2017 | 2017 | ||||||||
|
ERCC excision repair 8, CSA ubiquitin ligase complex subunit | 0.551 | 0.885 | 2.8E-15 |
|
phenotype | 0.110 | None | 1.000 | 0 | 1 | 2019 | 2019 | ||||||||
|
glutamate metabotropic receptor 1 | 0.528 | 0.808 | 0.14 |
|
phenotype | 0.190 | None | 0.667 | 0 | 1 | 2010 | 2019 | ||||||||
|
hepatic and glial cell adhesion molecule | 0.621 | 0.500 | 0.87 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
heat shock protein family B (small) member 1 | 0.436 | 0.808 | 2.8E-07 |
|
phenotype | 0.110 | None | 1.000 | 0 | 1 | 2013 | 2013 | ||||||||
|
intraflagellar transport 140 | 0.572 | 0.692 | 9.9E-24 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
interferon regulatory factor 2 binding protein like | 0.631 | 0.462 | 0.84 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
potassium voltage-gated channel subfamily B member 1 | 0.650 | 0.462 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 2 | 1 | 2017 | 2017 | ||||||||
|
potassium inwardly rectifying channel subfamily J member 10 | 0.599 | 0.654 | 0.15 |
|
phenotype | 0.120 | None | 1.000 | 0 | 1 | 2013 | 2018 | ||||||||
|
kinesin family member 1A | 0.559 | 0.692 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
kinesin family member 7 | 0.528 | 0.731 | 2.3E-22 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
laminin subunit alpha 2 | 0.553 | 0.692 | 2.4E-47 |
|
phenotype | 0.100 | None | 0 | 1 |