| 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. | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
N-acetylglucosamine-1-phosphate transferase subunits alpha and beta | 0.592 | 0.731 | 7.7E-19 |
|
phenotype | 0.100 | None | 1.000 | 3 | 1 | 2006 | 2014 | ||||||||
|
kinesin family member 11 | 0.560 | 0.769 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 2 | 1 | 2014 | 2014 | ||||||||
|
exocyst complex component 6B | 0.682 | 0.577 | 0.12 |
|
phenotype | 0.100 | None | 1.000 | 2 | 1 | 2013 | 2014 | ||||||||
|
potassium voltage-gated channel subfamily Q member 3 | 0.604 | 0.462 | 0.80 |
|
phenotype | 0.100 | None | 1.000 | 2 | 1 | 2012 | 2013 | ||||||||
|
UTP23 small subunit processome component | 0.711 | 0.385 | 8.6E-02 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2019 | 2019 | ||||||||
|
iron-sulfur cluster assembly 1 | 0.792 | 0.231 | 0.17 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2017 | 2017 | ||||||||
|
phosphatidylinositol glycan anchor biosynthesis class X | 0.780 | 0.308 | 2.4E-05 |
|
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 | ||||||||
|
N-glycanase 1 | 0.601 | 0.654 | 1.5E-13 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2015 | 2015 | ||||||||
|
lysine acetyltransferase 6A | 0.560 | 0.769 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2015 | 2015 | ||||||||
|
transport and golgi organization 2 homolog | 0.666 | 0.615 | 1.5E-04 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2016 | 2016 | ||||||||
|
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 | ||||||||
|
upstream binding transcription factor | 0.705 | 0.462 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2018 | 2018 | ||||||||
|
PMS1 homolog 2, mismatch repair system component | 0.484 | 0.808 | 4.5E-27 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2007 | 2007 | ||||||||
|
RAD21 cohesin complex component | 0.528 | 0.846 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2019 | 2019 | ||||||||
|
myocyte enhancer factor 2C | 0.517 | 0.769 | 1.7E-02 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2016 | 2016 | ||||||||
|
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 | ||||||||
|
double PHD fingers 2 | 0.604 | 0.731 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2018 | 2018 | ||||||||
|
centrosomal protein 19 | 0.729 | 0.346 | 1.6E-02 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2018 | 2018 | ||||||||
|
3-hydroxyanthranilate 3,4-dioxygenase | 0.644 | 0.538 | 1.1E-08 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2017 | 2017 | ||||||||
|
syntaxin 7 | 0.821 | 0.231 | 5.0E-06 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2016 | 2016 | ||||||||
|
S-phase cyclin A associated protein in the ER | 0.653 | 0.500 | 8.8E-03 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2019 | 2019 | ||||||||
|
proline rich 12 | 0.716 | 0.385 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
Ras like without CAAX 1 | 0.527 | 0.808 | 0.13 |
|
phenotype | 0.100 | None | 0 | 1 |