| 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. | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
OPA1 mitochondrial dynamin like GTPase | 0.510 | 0.846 | 0.99 |
|
phenotype | 0.010 | None | < 0.001 | 1 | 0 | 2019 | 2019 | ||||||||
|
dystroglycan 1 | 0.498 | 0.808 | 0.98 |
|
phenotype | 0.110 | None | < 0.001 | 1 | 0 | 2006 | 2006 | ||||||||
|
survival of motor neuron 2, centromeric | 0.459 | 0.769 | 0.10 |
|
phenotype | 0.100 | None | 0.917 | 12 | 1 | 1996 | 2019 | ||||||||
|
dystrophin | 0.423 | 0.923 | 1.00 |
|
phenotype | 0.500 | None | 0.919 | 36 | 0 | 1987 | 2019 | ||||||||
|
survival of motor neuron 1, telomeric | 0.454 | 0.769 | 1.6E-02 |
|
phenotype | 0.200 | None | 0.938 | 16 | 0 | 1996 | 2019 | ||||||||
|
actin beta | 0.325 | 0.923 | 0.99 |
|
phenotype | 0.100 | None | 1.000 | 12 | 1 | 2007 | 2019 | ||||||||
|
ryanodine receptor 1 | 0.489 | 0.808 | 1.6E-29 |
|
phenotype | 0.100 | None | 1.000 | 11 | 1 | 2001 | 2019 | ||||||||
|
small nuclear ribonucleoprotein polypeptide N | 0.538 | 0.731 | 4.3E-02 |
|
phenotype | 0.090 | None | 1.000 | 9 | 0 | 1996 | 2019 | ||||||||
|
SNRPN upstream reading frame | 0.623 | 0.538 | 0.46 |
|
phenotype | 0.090 | None | 1.000 | 9 | 0 | 1996 | 2019 | ||||||||
|
desmin | 0.460 | 0.846 | 8.8E-03 |
|
phenotype | 0.190 | None | 1.000 | 9 | 3 | 2000 | 2017 | ||||||||
|
stathmin 1 | 0.458 | 0.885 | 7.5E-02 |
|
phenotype | 0.090 | None | 1.000 | 9 | 0 | 1996 | 2019 | ||||||||
|
tropomyosin 2 | 0.530 | 0.654 | 2.4E-04 |
|
phenotype | 0.080 | None | 1.000 | 8 | 2 | 2007 | 2017 | ||||||||
|
actin alpha 1, skeletal muscle | 0.540 | 0.769 | 1.1E-06 |
|
phenotype | 0.080 | None | 1.000 | 8 | 0 | 2007 | 2018 | ||||||||
|
glucosidase alpha, acid | 0.631 | 0.577 | 2.8E-18 |
|
phenotype | 0.070 | None | 1.000 | 7 | 0 | 2005 | 2018 | ||||||||
|
superoxide dismutase 1 | 0.379 | 0.962 | 0.18 |
|
phenotype | 0.170 | None | 1.000 | 7 | 2 | 1994 | 2017 | ||||||||
|
nebulin | 0.608 | 0.692 | 4.6E-41 |
|
phenotype | 0.070 | None | 1.000 | 7 | 0 | 2009 | 2018 | ||||||||
|
lamin A/C | 0.384 | 0.885 | 1.00 |
|
phenotype | 0.150 | None | 1.000 | 5 | 3 | 2004 | 2018 | ||||||||
|
sucrase-isomaltase | 0.569 | 0.692 | 3.9E-60 |
|
phenotype | 0.050 | None | 1.000 | 5 | 0 | 1995 | 2018 | ||||||||
|
tropomyosin 3 | 0.490 | 0.808 | 6.7E-03 |
|
phenotype | 0.050 | None | 1.000 | 5 | 2 | 2008 | 2019 | ||||||||
|
dysferlin | 0.582 | 0.692 | 3.7E-33 |
|
phenotype | 0.050 | None | 1.000 | 5 | 1 | 2000 | 2014 | ||||||||
|
maltase-glucoamylase | 0.592 | 0.615 | 1.0E-35 |
|
phenotype | 0.050 | None | 1.000 | 5 | 0 | 1995 | 2018 | ||||||||
|
valosin containing protein | 0.469 | 0.923 | 1.00 |
|
phenotype | 0.150 | None | 1.000 | 5 | 1 | 2007 | 2017 | ||||||||
|
anoctamin 5 | 0.619 | 0.538 | 2.9E-22 |
|
phenotype | 0.040 | None | 1.000 | 4 | 0 | 2014 | 2019 | ||||||||
|
androgen receptor | 0.351 | 0.846 | 0.99 |
|
phenotype | 0.040 | None | 1.000 | 4 | 0 | 1992 | 2014 | ||||||||
|
four and a half LIM domains 1 | 0.532 | 0.731 | 0.97 |
|
phenotype | 0.040 | None | 1.000 | 4 | 0 | 2011 | 2019 |