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. | ||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
pleckstrin homology domain containing M3 | 0.861 | 0.231 | 1.0E-04 |
|
phenotype | 0.010 | None | 1.000 | 1 | 0 | 2018 | 2018 | ||||||||
|
tRNA | 0.931 | 0.231 |
|
phenotype | 0.010 | None | 1.000 | 1 | 0 | 2018 | 2018 | |||||||||
|
protein arginine methyltransferase 8 | 0.743 | 0.231 | 0.98 |
|
phenotype | 0.010 | None | 1.000 | 1 | 0 | 2018 | 2018 | ||||||||
|
acyl-CoA dehydrogenase family member 9 | 0.722 | 0.269 | 4.5E-08 |
|
phenotype | 0.110 | None | 1.000 | 1 | 0 | 2019 | 2019 | ||||||||
|
TAO kinase 3 | 0.792 | 0.269 | 1.00 |
|
phenotype | 0.010 | None | 1.000 | 1 | 0 | 2017 | 2017 | ||||||||
|
glycogenin 1 | 0.722 | 0.308 | 4.8E-12 |
|
phenotype | 0.410 | None | 1.000 | 1 | 0 | 2010 | 2018 | ||||||||
|
serine/threonine kinase 25 | 0.700 | 0.346 | 5.2E-02 |
|
phenotype | 0.010 | None | 1.000 | 1 | 0 | 2017 | 2017 | ||||||||
|
torsin 1A interacting protein 1 | 0.729 | 0.346 | 1.3E-09 |
|
phenotype | 0.110 | None | 1.000 | 1 | 0 | 2020 | 2020 | ||||||||
|
gliomedin | 0.769 | 0.346 | 2.6E-13 |
|
phenotype | 0.010 | None | 1.000 | 1 | 0 | 2014 | 2014 | ||||||||
|
myosin heavy chain 8 | 0.682 | 0.385 | 2.0E-51 |
|
phenotype | 0.020 | None | 1.000 | 2 | 0 | 2007 | 2008 | ||||||||
|
adenylosuccinate synthase 1 | 0.722 | 0.385 | 2.8E-07 |
|
phenotype | 0.010 | None | 1.000 | 1 | 0 | 2017 | 2017 | ||||||||
|
transmembrane protein 126B | 0.716 | 0.385 | 1.9E-04 |
|
phenotype | 0.110 | None | 1.000 | 1 | 0 | 2016 | 2016 | ||||||||
|
myotilin | 0.695 | 0.385 | 3.4E-08 |
|
phenotype | 0.310 | None | 1.000 | 1 | 0 | 2002 | 2004 | ||||||||
|
STE20 like kinase | 0.729 | 0.385 | 0.37 |
|
phenotype | 0.010 | None | 1.000 | 1 | 0 | 2017 | 2017 | ||||||||
|
poly(A) binding protein nuclear 1 | 0.674 | 0.423 | 0.39 |
|
phenotype | 0.030 | None | 1.000 | 3 | 0 | 2013 | 2014 | ||||||||
|
choline kinase beta | 0.663 | 0.423 | 3.8E-07 |
|
phenotype | 0.010 | None | 1.000 | 1 | 0 | 2016 | 2016 | ||||||||
|
chloride voltage-gated channel 1 | 0.641 | 0.423 | 3.3E-20 |
|
phenotype | 0.110 | None | 1.000 | 1 | 0 | 2012 | 2012 | ||||||||
|
neurofascin | 0.682 | 0.423 | 1.00 |
|
phenotype | 0.010 | None | 1.000 | 1 | 0 | 2019 | 2019 | ||||||||
|
MORC family CW-type zinc finger 3 | 0.743 | 0.423 | 1.00 |
|
phenotype | 0.010 | None | 1.000 | 1 | 0 | 2019 | 2019 | ||||||||
|
alsin Rho guanine nucleotide exchange factor ALS2 | 0.647 | 0.423 | 8.7E-12 |
|
phenotype | 0.110 | None | 1.000 | 1 | 0 | 2006 | 2006 | ||||||||
|
ALG2 alpha-1,3/1,6-mannosyltransferase | 0.670 | 0.423 | 8.0E-05 |
|
phenotype | 0.010 | None | 1.000 | 1 | 0 | 2014 | 2014 | ||||||||
|
electron transfer flavoprotein dehydrogenase | 0.678 | 0.462 | 2.8E-13 |
|
phenotype | 0.130 | None | 1.000 | 3 | 0 | 2015 | 2019 | ||||||||
|
triadin | 0.691 | 0.462 | 8.4E-22 |
|
phenotype | 0.010 | None | 1.000 | 1 | 0 | 2017 | 2017 | ||||||||
|
RANBP2-type and C3HC4-type zinc finger containing 1 | 0.736 | 0.462 | 0.13 |
|
phenotype | 0.010 | None | 1.000 | 1 | 0 | 2013 | 2013 | ||||||||
|
acyl-CoA dehydrogenase medium chain | 0.638 | 0.462 | 2.1E-12 |
|
phenotype | 0.010 | None | 1.000 | 1 | 0 | 2014 | 2014 |