| 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. | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
bestrophin 1 | 0.465 | 0.885 | 1.8E-12 |
|
disease | 1.000 | None | 0.972 | 109 | 106 | 1993 | 2019 | ||||||||
|
peripherin 2 | 0.551 | 0.500 | 0.12 |
|
disease | 0.430 | None | 1.000 | 4 | 1 | 2011 | 2019 | ||||||||
|
interphotoreceptor matrix proteoglycan 1 | 0.722 | 0.154 | 1.4E-29 |
|
disease | 0.330 | None | 1.000 | 3 | 1 | 2013 | 2014 | ||||||||
|
interphotoreceptor matrix proteoglycan 2 | 0.659 | 0.308 | 2.8E-13 |
|
disease | 0.310 | None | 1.000 | 1 | 1 | 2014 | 2014 | ||||||||
|
dystrophin | 0.423 | 0.923 | 1.00 |
|
disease | 0.100 | None | 0.951 | 81 | 0 | 1987 | 2020 | ||||||||
|
ferritin heavy chain 1 | 0.559 | 0.731 | 0.14 |
|
disease | 0.100 | None | 1.000 | 2 | 6 | 2011 | 2014 | ||||||||
|
plexin A2 | 0.447 | 0.808 | 1.1E-06 |
|
disease | 0.060 | None | 1.000 | 6 | 0 | 2008 | 2019 | ||||||||
|
glycogen phosphorylase, muscle associated | 0.650 | 0.577 | 2.0E-13 |
|
disease | 0.040 | None | 1.000 | 4 | 0 | 1994 | 1995 | ||||||||
|
retinal outer segment membrane protein 1 | 0.579 | 0.654 | 4.1E-04 |
|
disease | 0.030 | None | 1.000 | 3 | 0 | 1994 | 1995 | ||||||||
|
secretoglobin family 1A member 1 | 0.546 | 0.808 | 8.0E-04 |
|
disease | 0.020 | None | 1.000 | 2 | 0 | 1996 | 2000 | ||||||||
|
ATP binding cassette subfamily A member 4 | 0.493 | 0.769 | 5.3E-48 |
|
disease | 0.020 | None | 1.000 | 2 | 0 | 2008 | 2017 | ||||||||
|
ACD shelterin complex subunit and telomerase recruitment factor | 0.603 | 0.731 | 1.1E-12 |
|
disease | 0.010 | None | 1.000 | 1 | 0 | 2019 | 2019 | ||||||||
|
serine and arginine rich splicing factor 6 | 0.670 | 0.462 | 0.91 |
|
disease | 0.010 | None | 1.000 | 1 | 0 | 2009 | 2009 | ||||||||
|
serine and arginine rich splicing factor 5 | 0.604 | 0.808 | 0.69 |
|
disease | 0.010 | None | 1.000 | 1 | 0 | 2009 | 2009 | ||||||||
|
sex hormone binding globulin | 0.438 | 0.808 | 1.3E-06 |
|
disease | 0.010 | None | 1.000 | 1 | 0 | 2017 | 2017 | ||||||||
|
serine and arginine rich splicing factor 2 | 0.561 | 0.731 | 0.48 |
|
disease | 0.010 | None | 1.000 | 1 | 0 | 2009 | 2009 | ||||||||
|
serine and arginine rich splicing factor 1 | 0.563 | 0.692 | 0.98 |
|
disease | 0.010 | None | 1.000 | 1 | 0 | 2009 | 2009 | ||||||||
|
spalt like transcription factor 1 | 0.539 | 0.808 | 1.00 |
|
disease | 0.010 | None | 1.000 | 1 | 0 | 2017 | 2017 | ||||||||
|
ribulose-5-phosphate-3-epimerase | 0.575 | 0.538 | 2.5E-04 |
|
disease | 0.010 | None | 1.000 | 1 | 0 | 2004 | 2004 | ||||||||
|
rhodopsin | 0.525 | 0.769 | 1.3E-04 |
|
disease | 0.010 | None | 1.000 | 1 | 0 | 2013 | 2013 | ||||||||
|
actin beta | 0.325 | 0.923 | 0.99 |
|
disease | 0.010 | None | 1.000 | 1 | 0 | 2000 | 2000 | ||||||||
|
activin A receptor like type 1 | 0.493 | 0.769 | 9.7E-04 |
|
disease | 0.010 | None | 1.000 | 1 | 2 | 2016 | 2016 | ||||||||
|
ciliogenesis and planar polarity effector 1 | 0.575 | 0.692 | 5.9E-36 |
|
disease | 0.010 | None | 1.000 | 1 | 0 | 1997 | 1997 | ||||||||
|
bone morphogenetic protein 6 | 0.531 | 0.808 | 0.76 |
|
disease | 0.010 | None | 1.000 | 1 | 0 | 2018 | 2018 | ||||||||
|
regucalcin | 0.566 | 0.692 | 2.2E-02 |
|
disease | 0.010 | None | 1.000 | 1 | 0 | 2017 | 2017 |