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. | ||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
calcium voltage-gated channel subunit alpha1 A | 0.489 | 0.769 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 46 | 3 | 1988 | 2017 | ||||||||
|
sodium voltage-gated channel alpha subunit 2 | 0.518 | 0.731 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 34 | 2 | 1991 | 2017 | ||||||||
|
fibrillin 1 | 0.417 | 0.846 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 29 | 2 | 1986 | 2016 | ||||||||
|
SON DNA binding protein | 0.565 | 0.769 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 28 | 4 | 1988 | 2016 | ||||||||
|
ATPase Na+/K+ transporting subunit alpha 3 | 0.544 | 0.615 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 27 | 4 | 1988 | 2017 | ||||||||
|
syntaxin binding protein 1 | 0.532 | 0.692 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 27 | 3 | 1998 | 2016 | ||||||||
|
sodium voltage-gated channel alpha subunit 8 | 0.510 | 0.731 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 26 | 3 | 1995 | 2017 | ||||||||
|
lysine methyltransferase 2D | 0.465 | 0.808 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 25 | 2 | 1988 | 2017 | ||||||||
|
clathrin heavy chain | 0.558 | 0.769 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 23 | 2 | 1976 | 2017 | ||||||||
|
dedicator of cytokinesis 3 | 0.619 | 0.692 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 23 | 3 | 2000 | 2018 | ||||||||
|
lysine methyltransferase 2A | 0.410 | 0.885 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 22 | 7 | 1989 | 2017 | ||||||||
|
ATRX chromatin remodeler | 0.452 | 0.808 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 21 | 1 | 1992 | 2017 | ||||||||
|
AT-rich interaction domain 1B | 0.503 | 0.846 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 21 | 11 | 1984 | 2017 | ||||||||
|
thyroid hormone receptor interactor 12 | 0.678 | 0.462 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 21 | 1 | 1998 | 2017 | ||||||||
|
collagen type I alpha 1 chain | 0.430 | 0.808 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 20 | 2 | 1957 | 2017 | ||||||||
|
chromodomain helicase DNA binding protein 7 | 0.441 | 0.846 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 20 | 3 | 1999 | 2016 | ||||||||
|
E1A binding protein p300 | 0.459 | 0.846 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 19 | 3 | 1963 | 2016 | ||||||||
|
notch receptor 1 | 0.369 | 0.885 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 19 | 1 | 1999 | 2019 | ||||||||
|
collagen type IV alpha 1 chain | 0.484 | 0.731 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 18 | 3 | 1984 | 2015 | ||||||||
|
CREB binding protein | 0.428 | 0.808 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 18 | 2 | 1963 | 2017 | ||||||||
|
dynein cytoplasmic 1 heavy chain 1 | 0.547 | 0.769 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 18 | 4 | 1998 | 2018 | ||||||||
|
glutamate ionotropic receptor NMDA type subunit 2B | 0.510 | 0.692 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 18 | 2 | 2007 | 2017 | ||||||||
|
synaptic Ras GTPase activating protein 1 | 0.584 | 0.577 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 18 | 9 | 2004 | 2017 | ||||||||
|
ankyrin repeat domain 11 | 0.556 | 0.808 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 17 | 5 | 2004 | 2017 | ||||||||
|
mediator complex subunit 13L | 0.617 | 0.538 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 16 | 3 | 1971 | 2018 |