| 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. | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
fucose kinase | 0.769 | 0.192 | 1.0E-29 |
|
phenotype | 0.400 | moderate | 1.000 | 1 | 0 | 2018 | 2018 | ||||||||
|
lunapark, ER junction formation factor | 0.716 | 0.346 | 6.2E-04 |
|
phenotype | 0.400 | moderate | 1.000 | 1 | 0 | 2018 | 2018 | ||||||||
|
transient receptor potential cation channel subfamily M member 3 | 0.663 | 0.769 | 5.7E-07 |
|
phenotype | 0.300 | moderate | 1.000 | 2 | 0 | 2017 | 2019 | ||||||||
|
sorting nexin 27 | 0.722 | 0.346 | 1.00 |
|
phenotype | 0.300 | None | 1.000 | 1 | 0 | 2013 | 2013 | ||||||||
|
cyclin dependent kinase 8 | 0.597 | 0.654 | 0.41 |
|
phenotype | 0.300 | strong | 1.000 | 1 | 0 | 2019 | 2019 | ||||||||
|
argonaute RISC component 1 | 0.656 | 0.577 | 1.00 |
|
phenotype | 0.300 | moderate | 1.000 | 1 | 0 | 2018 | 2018 | ||||||||
|
RNA polymerase II subunit A | 0.650 | 0.423 | 1.00 |
|
phenotype | 0.300 | strong | 1.000 | 1 | 0 | 2019 | 2019 | ||||||||
|
vesicle associated membrane protein 2 | 0.650 | 0.462 | 0.89 |
|
phenotype | 0.300 | strong | 1.000 | 1 | 0 | 2019 | 2019 | ||||||||
|
phosphatidylinositol glycan anchor biosynthesis class B | 0.839 | 0.038 | 3.9E-11 |
|
phenotype | 0.300 | strong | 1.000 | 1 | 0 | 2019 | 2019 | ||||||||
|
adaptor related protein complex 2 subunit mu 1 | 0.751 | 0.231 | 1.00 |
|
phenotype | 0.300 | strong | 1.000 | 1 | 0 | 2019 | 2019 | ||||||||
|
POU class 3 homeobox 3 | 0.682 | 0.615 | 0.88 |
|
phenotype | 0.300 | strong | 1.000 | 1 | 0 | 2014 | 2014 | ||||||||
|
atrophin 1 | 0.409 | 0.885 | 1.00 |
|
phenotype | 0.300 | strong | 1.000 | 1 | 0 | 2019 | 2019 | ||||||||
|
phosphatidylinositol glycan anchor biosynthesis class P | 0.633 | 0.462 | 1.9E-03 |
|
phenotype | 0.300 | moderate | 1.000 | 1 | 0 | 2019 | 2019 | ||||||||
|
DEAD-box helicase 6 | 0.663 | 0.385 | 1.00 |
|
phenotype | 0.300 | strong | 1.000 | 1 | 0 | 2019 | 2019 | ||||||||
|
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1 | 0.695 | 0.385 | 1.00 |
|
phenotype | 0.300 | strong | 1.000 | 1 | 0 | 2019 | 2019 | ||||||||
|
DEAF1 transcription factor | 0.575 | 0.615 | 3.4E-04 |
|
phenotype | 0.100 | None | 1.000 | 5 | 2 | 2014 | 2017 | ||||||||
|
cathepsin A | 0.619 | 0.731 | 5.9E-09 |
|
phenotype | 0.100 | None | 1.000 | 3 | 2 | 1996 | 2014 | ||||||||
|
survival of motor neuron 1, telomeric | 0.454 | 0.769 | 1.6E-02 |
|
phenotype | 0.100 | None | 1.000 | 2 | 2 | 2007 | 2013 | ||||||||
|
survival of motor neuron 2, centromeric | 0.459 | 0.769 | 0.10 |
|
phenotype | 0.100 | None | 1.000 | 2 | 2 | 2007 | 2013 | ||||||||
|
inositol 1,4,5-trisphosphate receptor type 1 | 0.534 | 0.846 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2018 | 2018 | ||||||||
|
ATPase Na+/K+ transporting subunit alpha 3 | 0.544 | 0.615 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2016 | 2016 | ||||||||
|
kinesin family member 1A | 0.559 | 0.692 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2016 | 2016 | ||||||||
|
three prime repair exonuclease 1 | 0.517 | 0.808 | 0.58 |
|
phenotype | 0.100 | None | 1.000 | 1 | 2 | 2016 | 2016 | ||||||||
|
forkhead box G1 | 0.522 | 0.692 | 0.94 |
|
phenotype | 0.100 | None | 1.000 | 1 | 2 | 2016 | 2016 | ||||||||
|
bromodomain PHD finger transcription factor | 0.560 | 0.769 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 1 | 4 | 2017 | 2017 |