| 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. | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
dystrophin | 0.423 | 0.923 | 1.00 |
|
phenotype | 0.500 | None | 0.919 | 0 | 0 | 1987 | 2019 | ||||||||
|
peripheral myelin protein 22 | 0.471 | 0.885 | 0.91 |
|
phenotype | 0.440 | None | 1.000 | 0 | 0 | 1996 | 2019 | ||||||||
|
adenosine monophosphate deaminase 1 | 0.573 | 0.692 | 1.9E-21 |
|
phenotype | 0.410 | None | 1.000 | 0 | 0 | 2000 | 2000 | ||||||||
|
glycogenin 1 | 0.722 | 0.308 | 4.8E-12 |
|
phenotype | 0.410 | None | 1.000 | 0 | 0 | 2010 | 2018 | ||||||||
|
tubulin folding cofactor D | 0.599 | 0.615 | 1.0E-07 |
|
phenotype | 0.400 | None | 1.000 | 0 | 0 | 2016 | 2016 | ||||||||
|
survival of motor neuron 1, telomeric | 0.454 | 0.769 | 1.6E-02 |
|
phenotype | 0.200 | None | 0.938 | 0 | 0 | 1996 | 2019 | ||||||||
|
superoxide dismutase 1 | 0.379 | 0.962 | 0.18 |
|
phenotype | 0.170 | None | 1.000 | 0 | 0 | 1994 | 2017 | ||||||||
|
lamin A/C | 0.384 | 0.885 | 1.00 |
|
phenotype | 0.150 | None | 1.000 | 0 | 0 | 2004 | 2018 | ||||||||
|
valosin containing protein | 0.469 | 0.923 | 1.00 |
|
phenotype | 0.150 | None | 1.000 | 0 | 0 | 2007 | 2017 | ||||||||
|
electron transfer flavoprotein dehydrogenase | 0.678 | 0.462 | 2.8E-13 |
|
phenotype | 0.130 | None | 1.000 | 0 | 0 | 2015 | 2019 | ||||||||
|
filamin C | 0.568 | 0.615 | 1.00 |
|
phenotype | 0.130 | None | 1.000 | 0 | 0 | 2012 | 2018 | ||||||||
|
calcium voltage-gated channel subunit alpha1 A | 0.489 | 0.769 | 1.00 |
|
phenotype | 0.120 | None | 1.000 | 0 | 0 | 2005 | 2007 | ||||||||
|
fibrillin 1 | 0.417 | 0.846 | 1.00 |
|
phenotype | 0.120 | None | 1.000 | 0 | 0 | 2003 | 2010 | ||||||||
|
major histocompatibility complex, class II, DR beta 1 | 0.333 | 0.923 | 1.1E-03 |
|
phenotype | 0.120 | None | 1.000 | 0 | 0 | 2010 | 2012 | ||||||||
|
myosin heavy chain 3 | 0.563 | 0.654 | 6.7E-21 |
|
phenotype | 0.120 | None | 1.000 | 0 | 0 | 2007 | 2008 | ||||||||
|
interferon induced with helicase C domain 1 | 0.471 | 0.808 | 7.0E-44 |
|
phenotype | 0.120 | None | 1.000 | 0 | 0 | 2017 | 2018 | ||||||||
|
potassium inwardly rectifying channel subfamily J member 11 | 0.529 | 0.615 | 1.1E-02 |
|
phenotype | 0.110 | None | 1.000 | 0 | 0 | 2004 | 2004 | ||||||||
|
chloride voltage-gated channel 1 | 0.641 | 0.423 | 3.3E-20 |
|
phenotype | 0.110 | None | 1.000 | 0 | 0 | 2012 | 2012 | ||||||||
|
transmembrane protein 126B | 0.716 | 0.385 | 1.9E-04 |
|
phenotype | 0.110 | None | 1.000 | 0 | 0 | 2016 | 2016 | ||||||||
|
transthyretin | 0.423 | 0.885 | 0.52 |
|
phenotype | 0.110 | None | 1.000 | 0 | 0 | 2005 | 2005 | ||||||||
|
fukutin | 0.511 | 0.692 | 8.7E-07 |
|
phenotype | 0.110 | None | 1.000 | 0 | 0 | 2006 | 2006 | ||||||||
|
dystroglycan 1 | 0.498 | 0.808 | 0.98 |
|
phenotype | 0.110 | None | < 0.001 | 0 | 0 | 2006 | 2006 | ||||||||
|
alsin Rho guanine nucleotide exchange factor ALS2 | 0.647 | 0.423 | 8.7E-12 |
|
phenotype | 0.110 | None | 1.000 | 0 | 0 | 2006 | 2006 | ||||||||
|
amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase | 0.644 | 0.615 | 2.8E-27 |
|
phenotype | 0.110 | None | 1.000 | 0 | 0 | 2018 | 2018 | ||||||||
|
tumor protein p53 | 0.236 | 0.962 | 0.53 |
|
phenotype | 0.110 | None | 1.000 | 0 | 0 | 2019 | 2019 |