Source: BEFREE
| 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. | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
laminin subunit alpha 2 | 0.553 | 0.692 | 2.4E-47 |
|
disease | 0.100 | None | 1.000 | 17 | 0 | 1996 | 2019 | ||||||||
|
ANKH inorganic pyrophosphate transport regulator | 0.606 | 0.692 | 0.28 |
|
disease | 0.060 | None | 1.000 | 6 | 0 | 2009 | 2018 | ||||||||
|
dystroglycan 1 | 0.498 | 0.808 | 0.98 |
|
disease | 0.050 | None | 1.000 | 5 | 0 | 2007 | 2012 | ||||||||
|
protein O-mannosyltransferase 1 | 0.525 | 0.615 | 4.2E-17 |
|
disease | 0.040 | None | 1.000 | 4 | 0 | 2006 | 2014 | ||||||||
|
ankyrin 1 | 0.540 | 0.885 | 1.00 |
|
disease | 0.040 | None | 1.000 | 4 | 0 | 2009 | 2018 | ||||||||
|
Janus kinase 2 | 0.385 | 0.885 | 0.65 |
|
disease | 0.030 | None | 1.000 | 3 | 1 | 2007 | 2009 | ||||||||
|
protein O-mannosyltransferase 2 | 0.544 | 0.615 | 9.4E-12 |
|
disease | 0.030 | None | 1.000 | 3 | 0 | 2008 | 2014 | ||||||||
|
transforming growth factor beta 1 | 0.287 | 0.962 | 3.7E-02 |
|
disease | 0.020 | None | 0.500 | 2 | 0 | 1999 | 2010 | ||||||||
|
carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase | 0.482 | 0.846 | 1.00 |
|
disease | 0.020 | None | 1.000 | 2 | 0 | 2019 | 2019 | ||||||||
|
calpain 3 | 0.564 | 0.615 | 3.6E-19 |
|
disease | 0.020 | None | 1.000 | 2 | 0 | 2011 | 2015 | ||||||||
|
actinin alpha 3 (gene/pseudogene) | 0.663 | 0.500 |
|
disease | 0.010 | None | 1.000 | 1 | 0 | 1997 | 1997 | |||||||||
|
SRY-box transcription factor 9 | 0.419 | 0.846 | 1.00 |
|
disease | 0.010 | None | 1.000 | 1 | 0 | 1996 | 1996 | ||||||||
|
ST3 beta-galactoside alpha-2,3-sialyltransferase 4 | 0.588 | 0.692 | 4.0E-02 |
|
disease | 0.010 | None | 1.000 | 1 | 0 | 2020 | 2020 | ||||||||
|
sarcoglycan alpha | 0.592 | 0.654 | 2.7E-03 |
|
disease | 0.010 | None | 1.000 | 1 | 0 | 2005 | 2005 | ||||||||
|
biglycan | 0.484 | 0.808 | 0.45 |
|
disease | 0.010 | None | 1.000 | 1 | 0 | 2008 | 2008 | ||||||||
|
retinal outer segment membrane protein 1 | 0.579 | 0.654 | 4.1E-04 |
|
disease | 0.010 | None | 1.000 | 1 | 0 | 2017 | 2017 | ||||||||
|
CD177 molecule | 0.595 | 0.654 |
|
disease | 0.010 | None | 1.000 | 1 | 0 | 2004 | 2004 | |||||||||
|
SRC proto-oncogene, non-receptor tyrosine kinase | 0.467 | 0.885 | 1.00 |
|
disease | 0.010 | None | 1.000 | 1 | 0 | 1993 | 1993 | ||||||||
|
dysferlin | 0.582 | 0.692 | 3.7E-33 |
|
disease | 0.010 | None | 1.000 | 1 | 0 | 2005 | 2005 | ||||||||
|
TIMP metallopeptidase inhibitor 1 | 0.380 | 0.885 | 0.50 |
|
disease | 0.010 | None | 1.000 | 1 | 0 | 2010 | 2010 | ||||||||
|
TNF superfamily member 11 | 0.453 | 0.846 | 4.9E-03 |
|
disease | 0.010 | None | 1.000 | 1 | 0 | 2016 | 2016 | ||||||||
|
VPS51 subunit of GARP complex | 0.452 | 0.846 | 1.1E-08 |
|
disease | 0.010 | None | 1.000 | 1 | 0 | 2018 | 2018 | ||||||||
|
vav guanine nucleotide exchange factor 1 | 0.556 | 0.769 | 1.00 |
|
disease | 0.010 | None | 1.000 | 1 | 0 | 2006 | 2006 | ||||||||
|
fukutin related protein | 0.513 | 0.731 | 9.8E-06 |
|
disease | 0.010 | None | 1.000 | 1 | 1 | 2018 | 2018 | ||||||||
|
coiled-coil domain containing 6 | 0.517 | 0.808 | 0.58 |
|
disease | 0.010 | None | 1.000 | 1 | 0 | 2004 | 2004 |