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 | 37 | 1 | 1987 | 2019 | ||||||||
|
peripheral myelin protein 22 | 0.471 | 0.885 | 0.91 |
|
phenotype | 0.440 | None | 1.000 | 5 | 0 | 1996 | 2019 | ||||||||
|
glycogenin 1 | 0.722 | 0.308 | 4.8E-12 |
|
phenotype | 0.410 | None | 1.000 | 2 | 0 | 2010 | 2018 | ||||||||
|
adenosine monophosphate deaminase 1 | 0.573 | 0.692 | 1.9E-21 |
|
phenotype | 0.410 | None | 1.000 | 1 | 0 | 2000 | 2000 | ||||||||
|
tubulin folding cofactor D | 0.599 | 0.615 | 1.0E-07 |
|
phenotype | 0.400 | None | 1.000 | 1 | 0 | 2016 | 2016 | ||||||||
|
myotilin | 0.695 | 0.385 | 3.4E-08 |
|
phenotype | 0.310 | None | 1.000 | 2 | 0 | 2002 | 2004 | ||||||||
|
colony stimulating factor 2 | 0.330 | 0.962 | 0.83 |
|
phenotype | 0.300 | None | 1.000 | 1 | 0 | 1996 | 1996 | ||||||||
|
calmodulin-lysine N-methyltransferase | 0.510 | 0.808 | 1.4E-15 |
|
phenotype | 0.300 | None | 1.000 | 1 | 0 | 2015 | 2015 | ||||||||
|
titin | 0.470 | 0.885 | 2.6E-96 |
|
phenotype | 0.300 | None | 1.000 | 1 | 0 | 2007 | 2007 | ||||||||
|
colony stimulating factor 3 | 0.377 | 0.885 | 0.38 |
|
phenotype | 0.300 | None | 1.000 | 1 | 0 | 1996 | 1996 | ||||||||
|
survival of motor neuron 1, telomeric | 0.454 | 0.769 | 1.6E-02 |
|
phenotype | 0.200 | None | 0.938 | 16 | 0 | 1996 | 2019 | ||||||||
|
desmin | 0.460 | 0.846 | 8.8E-03 |
|
phenotype | 0.190 | None | 1.000 | 9 | 3 | 2000 | 2017 | ||||||||
|
superoxide dismutase 1 | 0.379 | 0.962 | 0.18 |
|
phenotype | 0.170 | None | 1.000 | 7 | 2 | 1994 | 2017 | ||||||||
|
valosin containing protein | 0.469 | 0.923 | 1.00 |
|
phenotype | 0.150 | None | 1.000 | 5 | 1 | 2007 | 2017 | ||||||||
|
lamin A/C | 0.384 | 0.885 | 1.00 |
|
phenotype | 0.150 | None | 1.000 | 5 | 3 | 2004 | 2018 | ||||||||
|
filamin C | 0.568 | 0.615 | 1.00 |
|
phenotype | 0.130 | None | 1.000 | 3 | 0 | 2012 | 2018 | ||||||||
|
electron transfer flavoprotein dehydrogenase | 0.678 | 0.462 | 2.8E-13 |
|
phenotype | 0.130 | None | 1.000 | 3 | 0 | 2015 | 2019 | ||||||||
|
major histocompatibility complex, class II, DR beta 1 | 0.333 | 0.923 | 1.1E-03 |
|
phenotype | 0.120 | None | 1.000 | 2 | 0 | 2010 | 2012 | ||||||||
|
fibrillin 1 | 0.417 | 0.846 | 1.00 |
|
phenotype | 0.120 | None | 1.000 | 2 | 1 | 2003 | 2010 | ||||||||
|
calcium voltage-gated channel subunit alpha1 A | 0.489 | 0.769 | 1.00 |
|
phenotype | 0.120 | None | 1.000 | 2 | 1 | 2005 | 2007 | ||||||||
|
myosin heavy chain 3 | 0.563 | 0.654 | 6.7E-21 |
|
phenotype | 0.120 | None | 1.000 | 2 | 0 | 2007 | 2008 | ||||||||
|
spectrin repeat containing nuclear envelope protein 1 | 0.511 | 0.846 | 3.2E-52 |
|
phenotype | 0.120 | None | 1.000 | 2 | 2 | 2017 | 2017 | ||||||||
|
interferon induced with helicase C domain 1 | 0.471 | 0.808 | 7.0E-44 |
|
phenotype | 0.120 | None | 1.000 | 2 | 0 | 2017 | 2018 | ||||||||
|
DM1 protein kinase | 0.603 | 0.692 | 3.8E-02 |
|
phenotype | 0.110 | None | 1.000 | 1 | 0 | 2010 | 2010 | ||||||||
|
chloride voltage-gated channel 1 | 0.641 | 0.423 | 3.3E-20 |
|
phenotype | 0.110 | None | 1.000 | 1 | 0 | 2012 | 2012 |