| 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. | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
upstream binding transcription factor | 0.705 | 0.462 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2018 | 2018 | ||||||||
|
EBF transcription factor 3 | 0.595 | 0.731 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2017 | 2017 | ||||||||
|
myocyte enhancer factor 2C | 0.517 | 0.769 | 1.7E-02 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2016 | 2016 | ||||||||
|
3-hydroxyanthranilate 3,4-dioxygenase | 0.644 | 0.538 | 1.1E-08 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2017 | 2017 | ||||||||
|
FLG antisense RNA 1 | 0.700 | 0.538 |
|
phenotype | 0.100 | None | 1.000 | 1 | 2 | 2006 | 2006 | |||||||||
|
dual specificity tyrosine phosphorylation regulated kinase 1A | 0.533 | 0.769 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 1 | 17 | 2015 | 2015 | ||||||||
|
centrosomal protein 19 | 0.729 | 0.346 | 1.6E-02 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2018 | 2018 | ||||||||
|
HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 | 0.674 | 0.500 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2016 | 2016 | ||||||||
|
N-glycanase 1 | 0.601 | 0.654 | 1.5E-13 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2015 | 2015 | ||||||||
|
chloride voltage-gated channel 4 | 0.587 | 0.654 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 1 | 9 | 2018 | 2018 | ||||||||
|
phosphatidylinositol glycan anchor biosynthesis class X | 0.780 | 0.308 | 2.4E-05 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2018 | 2018 | ||||||||
|
UTP23 small subunit processome component | 0.711 | 0.385 | 8.6E-02 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2019 | 2019 | ||||||||
|
transport and golgi organization 2 homolog | 0.666 | 0.615 | 1.5E-04 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2016 | 2016 | ||||||||
|
WASP family member 1 | 0.547 | 0.808 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 1 | 3 | 2018 | 2018 | ||||||||
|
DCC netrin 1 receptor | 0.471 | 0.808 | 0.99 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2017 | 2017 | ||||||||
|
GATA zinc finger domain containing 2B | 0.593 | 0.654 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2017 | 2017 | ||||||||
|
DEAF1 transcription factor | 0.575 | 0.615 | 3.4E-04 |
|
phenotype | 0.100 | None | 1.000 | 1 | 2 | 2017 | 2017 | ||||||||
|
transmembrane protein 67 | 0.512 | 0.769 | 2.1E-24 |
|
phenotype | 0.100 | None | 1.000 | 1 | 2 | 2009 | 2009 | ||||||||
|
N-sulfoglucosamine sulfohydrolase | 0.638 | 0.692 | 1.0E-04 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
patched 1 | 0.398 | 0.885 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
THAP domain containing 11 | 0.769 | 0.346 | 0.83 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
mucolipin 1 | 0.601 | 0.654 | 5.8E-04 |
|
phenotype | 0.100 | None | 0 | 2 | |||||||||||
|
sodium voltage-gated channel alpha subunit 1 | 0.477 | 0.808 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
solute carrier family 2 member 1 | 0.388 | 0.808 | 0.99 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
SPG7 matrix AAA peptidase subunit, paraplegin | 0.436 | 0.885 | 2.0E-36 |
|
phenotype | 0.100 | None | 0 | 1 |