| 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. | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
adenylate cyclase 5 | 0.617 | 0.577 | 1.00 |
|
disease | 0.100 | None | 1.000 | 22 | 1 | 1992 | 2017 | ||||||||
|
ATRX chromatin remodeler | 0.452 | 0.808 | 1.00 |
|
disease | 0.100 | None | 1.000 | 21 | 2 | 1992 | 2017 | ||||||||
|
spastin | 0.579 | 0.577 | 1.00 |
|
disease | 0.100 | None | 1.000 | 21 | 1 | 1999 | 2016 | ||||||||
|
thyroid hormone receptor interactor 12 | 0.678 | 0.462 | 1.00 |
|
disease | 0.100 | None | 1.000 | 21 | 1 | 1998 | 2017 | ||||||||
|
sacsin molecular chaperone | 0.606 | 0.654 | 1.1E-23 |
|
disease | 0.100 | None | 1.000 | 21 | 3 | 1993 | 2016 | ||||||||
|
solute carrier family 2 member 1 | 0.388 | 0.808 | 0.99 |
|
disease | 0.100 | None | 1.000 | 21 | 1 | 1991 | 2016 | ||||||||
|
SATB homeobox 2 | 0.503 | 0.769 | 1.00 |
|
disease | 0.100 | None | 1.000 | 21 | 5 | 1989 | 2017 | ||||||||
|
SOS Ras/Rac guanine nucleotide exchange factor 1 | 0.485 | 0.808 | 1.00 |
|
disease | 0.100 | None | 1.000 | 21 | 5 | 2002 | 2016 | ||||||||
|
protein tyrosine phosphatase non-receptor type 11 | 0.385 | 0.923 | 1.00 |
|
disease | 0.100 | None | 1.000 | 20 | 7 | 1968 | 2016 | ||||||||
|
collagen type I alpha 1 chain | 0.430 | 0.808 | 1.00 |
|
disease | 0.100 | None | 1.000 | 20 | 1 | 1957 | 2017 | ||||||||
|
peripheral myelin protein 22 | 0.471 | 0.885 | 0.91 |
|
disease | 0.100 | None | 1.000 | 20 | 1 | 1992 | 2015 | ||||||||
|
E1A binding protein p300 | 0.459 | 0.846 | 1.00 |
|
disease | 0.100 | None | 1.000 | 19 | 1 | 1963 | 2016 | ||||||||
|
sodium voltage-gated channel alpha subunit 1 | 0.477 | 0.808 | 1.00 |
|
disease | 0.100 | None | 1.000 | 19 | 1 | 1997 | 2014 | ||||||||
|
BAF chromatin remodeling complex subunit BCL11B | 0.568 | 0.731 | 0.99 |
|
disease | 0.100 | None | 1.000 | 19 | 2 | 2003 | 2016 | ||||||||
|
notch receptor 1 | 0.369 | 0.885 | 1.00 |
|
disease | 0.100 | None | 1.000 | 19 | 1 | 1999 | 2019 | ||||||||
|
SCN1A and SCN9A antisense RNA 1 | 0.636 | 0.346 |
|
disease | 0.100 | None | 1.000 | 19 | 1 | 1997 | 2014 | |||||||||
|
CREB binding protein | 0.428 | 0.808 | 1.00 |
|
disease | 0.100 | None | 1.000 | 18 | 4 | 1963 | 2017 | ||||||||
|
glucosidase alpha, acid | 0.631 | 0.577 | 2.8E-18 |
|
disease | 0.100 | None | 1.000 | 18 | 2 | 1988 | 2015 | ||||||||
|
synaptotagmin 1 | 0.412 | 0.846 | 0.60 |
|
disease | 0.100 | None | 1.000 | 18 | 1 | 1994 | 2016 | ||||||||
|
dynein cytoplasmic 1 heavy chain 1 | 0.547 | 0.769 | 1.00 |
|
disease | 0.100 | None | 1.000 | 18 | 1 | 1998 | 2018 | ||||||||
|
synaptic Ras GTPase activating protein 1 | 0.584 | 0.577 | 1.00 |
|
disease | 0.100 | None | 1.000 | 18 | 4 | 2004 | 2017 | ||||||||
|
dual specificity tyrosine phosphorylation regulated kinase 1A | 0.533 | 0.769 | 1.00 |
|
disease | 0.100 | None | 1.000 | 18 | 7 | 1990 | 2016 | ||||||||
|
POU class 3 homeobox 3 | 0.682 | 0.615 | 0.88 |
|
disease | 0.100 | None | 1.000 | 18 | 1 | 1989 | 2017 | ||||||||
|
collagen type IV alpha 1 chain | 0.484 | 0.731 | 1.00 |
|
disease | 0.100 | None | 1.000 | 18 | 2 | 1984 | 2015 | ||||||||
|
purine rich element binding protein A | 0.644 | 0.500 | 0.94 |
|
disease | 0.100 | None | 1.000 | 17 | 1 | 1991 | 2018 |