| 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. | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
ST20-MTHFS readthrough | 0.805 | 0.115 | 7.6E-03 |
|
phenotype | 0.100 | None | 0 | 2 | |||||||||||
|
kinesin family member 7 | 0.528 | 0.731 | 2.3E-22 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
aquaporin 4 | 0.456 | 0.885 | 2.3E-03 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
kinesin family member 1A | 0.559 | 0.692 | 1.00 |
|
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 | |||||||||||
|
modulator of VRAC current 1 | 0.585 | 0.769 | 3.2E-08 |
|
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 | |||||||||||
|
hepatic and glial cell adhesion molecule | 0.621 | 0.500 | 0.87 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
dynamin 1 | 0.595 | 0.692 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
discs large MAGUK scaffold protein 3 | 0.544 | 0.615 | 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 | |||||||||||
|
methenyltetrahydrofolate synthetase | 0.678 | 0.500 | 2.6E-04 |
|
phenotype | 0.100 | None | 0 | 2 | |||||||||||
|
laminin subunit alpha 2 | 0.553 | 0.692 | 2.4E-47 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
intraflagellar transport 140 | 0.572 | 0.692 | 9.9E-24 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
calcium/calmodulin dependent protein kinase IV | 0.621 | 0.654 | 0.51 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
AQP4 antisense RNA 1 | 0.751 | 0.577 |
|
phenotype | 0.100 | None | 0 | 1 | ||||||||||||
|
twinkle mtDNA helicase | 0.516 | 0.692 | 3.2E-03 |
|
phenotype | 0.200 | None | 1.000 | 1 | 3 | 1997 | 2016 | ||||||||
|
calcium voltage-gated channel subunit alpha1 A | 0.489 | 0.769 | 1.00 |
|
phenotype | 0.400 | None | 1.000 | 0 | 3 | 1997 | 2019 | ||||||||
|
ATM serine/threonine kinase | 0.374 | 0.885 | 5.6E-47 |
|
phenotype | 0.200 | None | 1.000 | 0 | 1 | 1998 | 2020 | ||||||||
|
NPC intracellular cholesterol transporter 1 | 0.518 | 0.692 | 6.5E-06 |
|
phenotype | 0.150 | None | 1.000 | 0 | 2 | 1999 | 2019 | ||||||||
|
aprataxin | 0.590 | 0.500 | 4.0E-10 |
|
phenotype | 0.200 | None | 0.958 | 1 | 2 | 2000 | 2018 | ||||||||
|
senataxin | 0.570 | 0.731 | 0.95 |
|
phenotype | 0.200 | None | 0.960 | 0 | 1 | 2005 | 2018 | ||||||||
|
spectrin repeat containing nuclear envelope protein 1 | 0.511 | 0.846 | 3.2E-52 |
|
phenotype | 0.500 | None | 1.000 | 0 | 1 | 2007 | 2019 | ||||||||
|
transmembrane protein 67 | 0.512 | 0.769 | 2.1E-24 |
|
phenotype | 0.100 | None | 1.000 | 1 | 2 | 2009 | 2009 | ||||||||
|
SPG7 matrix AAA peptidase subunit, paraplegin | 0.436 | 0.885 | 2.0E-36 |
|
phenotype | 0.160 | None | 1.000 | 1 | 6 | 2009 | 2019 |