| 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. | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
carnitine palmitoyltransferase 2 | 0.542 | 0.769 | 4.6E-10 |
|
phenotype | 0.160 | None | 1.000 | 6 | 0 | 2000 | 2016 | ||||||||
|
anoctamin 5 | 0.619 | 0.538 | 2.9E-22 |
|
phenotype | 0.130 | None | 1.000 | 3 | 0 | 2014 | 2017 | ||||||||
|
dystrophin | 0.423 | 0.923 | 1.00 |
|
phenotype | 0.120 | None | 1.000 | 2 | 1 | 1996 | 2019 | ||||||||
|
MEFV innate immuity regulator, pyrin | 0.440 | 0.885 | 1.0E-14 |
|
phenotype | 0.120 | None | 1.000 | 2 | 1 | 2009 | 2018 | ||||||||
|
caveolin 3 | 0.564 | 0.692 | 5.5E-03 |
|
phenotype | 0.120 | None | 1.000 | 2 | 2 | 2000 | 2017 | ||||||||
|
tRNA | 0.534 | 0.731 |
|
phenotype | 0.110 | None | 1.000 | 1 | 0 | 2009 | 2009 | |||||||||
|
collagen type I alpha 1 chain | 0.430 | 0.808 | 1.00 |
|
phenotype | 0.110 | None | 1.000 | 1 | 2 | 2018 | 2018 | ||||||||
|
tRNA | 0.608 | 0.577 |
|
phenotype | 0.110 | None | 1.000 | 1 | 0 | 2007 | 2007 | |||||||||
|
sodium voltage-gated channel alpha subunit 4 | 0.554 | 0.731 | 1.3E-02 |
|
phenotype | 0.110 | None | 1.000 | 1 | 0 | 2001 | 2001 | ||||||||
|
collagen type V alpha 1 chain | 0.536 | 0.769 | 1.00 |
|
phenotype | 0.110 | None | 1.000 | 1 | 1 | 2018 | 2018 | ||||||||
|
NLR family pyrin domain containing 3 | 0.361 | 0.962 | 8.1E-04 |
|
phenotype | 0.110 | None | < 0.001 | 1 | 0 | 2015 | 2015 | ||||||||
|
thymidine kinase 2 | 0.585 | 0.615 | 3.9E-07 |
|
phenotype | 0.110 | None | 1.000 | 1 | 0 | 2007 | 2007 | ||||||||
|
stromal interaction molecule 1 | 0.501 | 0.808 | 0.78 |
|
phenotype | 0.110 | None | 1.000 | 1 | 0 | 2014 | 2014 | ||||||||
|
catechol-O-methyltransferase | 0.400 | 0.923 | 1.1E-06 |
|
phenotype | 0.110 | None | 1.000 | 1 | 0 | 2008 | 2008 | ||||||||
|
hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta | 0.619 | 0.692 | 1.5E-11 |
|
phenotype | 0.110 | None | 1.000 | 1 | 0 | 2011 | 2011 | ||||||||
|
ORAI calcium release-activated calcium modulator 1 | 0.520 | 0.808 | 1.9E-05 |
|
phenotype | 0.110 | None | 1.000 | 1 | 0 | 2019 | 2019 | ||||||||
|
enolase 3 | 0.769 | 0.308 | 1.6E-19 |
|
phenotype | 0.110 | None | 1.000 | 1 | 0 | 2014 | 2014 | ||||||||
|
interleukin 10 | 0.281 | 0.923 | 5.9E-03 |
|
phenotype | 0.110 | None | 1.000 | 1 | 0 | 2019 | 2019 | ||||||||
|
adenosine deaminase 2 | 0.545 | 0.846 | 8.1E-08 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
tRNA | 0.597 | 0.731 |
|
phenotype | 0.100 | None | 0 | 0 | ||||||||||||
|
tRNA | 0.582 | 0.731 |
|
phenotype | 0.100 | None | 0 | 0 | ||||||||||||
|
DNA polymerase gamma, catalytic subunit | 0.457 | 0.846 | 2.1E-09 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
endoplasmic reticulum aminopeptidase 1 | 0.556 | 0.692 | 2.1E-26 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
mevalonate kinase | 0.576 | 0.731 | 0.17 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
tRNA | 0.590 | 0.731 |
|
phenotype | 0.100 | None | 0 | 0 |