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. | ||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
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 2, centromeric | 0.459 | 0.769 | 0.10 |
|
phenotype | 0.100 | None | 1.000 | 2 | 2 | 2007 | 2013 | ||||||||
|
survival of motor neuron 1, telomeric | 0.454 | 0.769 | 1.6E-02 |
|
phenotype | 0.100 | None | 1.000 | 2 | 2 | 2007 | 2013 | ||||||||
|
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 | ||||||||
|
myotubularin 1 | 0.573 | 0.731 | 1.00 |
|
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 | ||||||||
|
forkhead box G1 | 0.522 | 0.692 | 0.94 |
|
phenotype | 0.100 | None | 1.000 | 1 | 2 | 2016 | 2016 | ||||||||
|
adaptor related protein complex 2 subunit mu 1 | 0.751 | 0.231 | 1.00 |
|
phenotype | 0.300 | strong | 1.000 | 1 | 0 | 2019 | 2019 | ||||||||
|
sorting nexin 27 | 0.722 | 0.346 | 1.00 |
|
phenotype | 0.300 | None | 1.000 | 1 | 0 | 2013 | 2013 | ||||||||
|
kinesin family member 1A | 0.559 | 0.692 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2016 | 2016 | ||||||||
|
ATPase Na+/K+ transporting subunit alpha 3 | 0.544 | 0.615 | 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 | ||||||||
|
POU class 3 homeobox 3 | 0.682 | 0.615 | 0.88 |
|
phenotype | 0.300 | strong | 1.000 | 1 | 0 | 2014 | 2014 | ||||||||
|
RNA polymerase II subunit A | 0.650 | 0.423 | 1.00 |
|
phenotype | 0.300 | strong | 1.000 | 1 | 0 | 2019 | 2019 | ||||||||
|
contactin associated protein 1 | 0.554 | 0.577 | 3.4E-05 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2017 | 2017 | ||||||||
|
protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | 0.537 | 0.538 | 1.9E-20 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2016 | 2016 | ||||||||
|
transport and golgi organization 2 homolog | 0.666 | 0.615 | 1.5E-04 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2016 | 2016 | ||||||||
|
DEAD-box helicase 6 | 0.663 | 0.385 | 1.00 |
|
phenotype | 0.300 | strong | 1.000 | 1 | 0 | 2019 | 2019 | ||||||||
|
lunapark, ER junction formation factor | 0.716 | 0.346 | 6.2E-04 |
|
phenotype | 0.400 | moderate | 1.000 | 1 | 0 | 2018 | 2018 | ||||||||
|
leucine zipper like transcription regulator 1 | 0.547 | 0.808 | 1.0E-92 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2018 | 2018 | ||||||||
|
solute carrier family 19 member 3 | 0.610 | 0.692 | 0.10 |
|
phenotype | 0.100 | None | 1.000 | 1 | 2 | 2016 | 2016 | ||||||||
|
ATR interacting protein | 0.666 | 0.692 | 2.0E-05 |
|
phenotype | 0.100 | None | 1.000 | 1 | 2 | 2016 | 2016 | ||||||||
|
4-aminobutyrate aminotransferase | 0.628 | 0.538 | 6.3E-03 |
|
phenotype | 0.100 | None | 1.000 | 1 | 4 | 2010 | 2010 | ||||||||
|
atrophin 1 | 0.409 | 0.885 | 1.00 |
|
phenotype | 0.300 | strong | 1.000 | 1 | 0 | 2019 | 2019 |