| 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. | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
catenin beta 1 | 0.303 | 0.885 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 22 | 6 | 1991 | 2017 | ||||||||
|
adenylate cyclase 5 | 0.617 | 0.577 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 22 | 2 | 1992 | 2017 | ||||||||
|
SATB homeobox 2 | 0.503 | 0.769 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 21 | 3 | 1989 | 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 | ||||||||
|
spastin | 0.579 | 0.577 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 21 | 1 | 1999 | 2016 | ||||||||
|
ATRX chromatin remodeler | 0.452 | 0.808 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 21 | 1 | 1992 | 2017 | ||||||||
|
sacsin molecular chaperone | 0.606 | 0.654 | 1.1E-23 |
|
phenotype | 0.100 | None | 1.000 | 21 | 1 | 1993 | 2016 | ||||||||
|
tubulin beta 4A class IVa | 0.608 | 0.615 | 0.11 |
|
phenotype | 0.100 | None | 1.000 | 20 | 2 | 2002 | 2017 | ||||||||
|
peripheral myelin protein 22 | 0.471 | 0.885 | 0.91 |
|
phenotype | 0.100 | None | 1.000 | 20 | 1 | 1992 | 2015 | ||||||||
|
chromodomain helicase DNA binding protein 7 | 0.441 | 0.846 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 20 | 3 | 1999 | 2016 | ||||||||
|
collagen type I alpha 1 chain | 0.430 | 0.808 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 20 | 2 | 1957 | 2017 | ||||||||
|
notch receptor 1 | 0.369 | 0.885 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 19 | 1 | 1999 | 2019 | ||||||||
|
methyl-CpG binding protein 2 | 0.414 | 0.846 | 0.89 |
|
phenotype | 0.400 | None | 1.000 | 19 | 10 | 1993 | 2016 | ||||||||
|
E1A binding protein p300 | 0.459 | 0.846 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 19 | 3 | 1963 | 2016 | ||||||||
|
BAF chromatin remodeling complex subunit BCL11B | 0.568 | 0.731 | 0.99 |
|
phenotype | 0.100 | None | 1.000 | 19 | 1 | 2003 | 2016 | ||||||||
|
dual specificity tyrosine phosphorylation regulated kinase 1A | 0.533 | 0.769 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 18 | 2 | 1990 | 2016 | ||||||||
|
heterogeneous nuclear ribonucleoprotein R | 0.722 | 0.308 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 18 | 1 | 1998 | 2014 | ||||||||
|
synaptic Ras GTPase activating protein 1 | 0.584 | 0.577 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 18 | 9 | 2004 | 2017 | ||||||||
|
dynein cytoplasmic 1 heavy chain 1 | 0.547 | 0.769 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 18 | 4 | 1998 | 2018 | ||||||||
|
synaptotagmin 1 | 0.412 | 0.846 | 0.60 |
|
phenotype | 0.100 | None | 1.000 | 18 | 2 | 1994 | 2016 | ||||||||
|
glutamate ionotropic receptor NMDA type subunit 2B | 0.510 | 0.692 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 18 | 2 | 2007 | 2017 | ||||||||
|
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 | ||||||||
|
ankyrin repeat domain 11 | 0.556 | 0.808 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 17 | 5 | 2004 | 2017 |