| 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. | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
TTN antisense RNA 1 | 0.599 | 0.577 |
|
group | 0.100 | None | 1.000 | 14 | 2 | 1991 | 2014 | |||||||||
|
SOX2 overlapping transcript | 0.597 | 0.615 |
|
group | 0.100 | None | 1.000 | 8 | 1 | 2005 | 2016 | |||||||||
|
titin | 0.470 | 0.885 | 2.6E-96 |
|
group | 0.100 | None | 1.000 | 14 | 2 | 1991 | 2014 | ||||||||
|
usherin | 0.579 | 0.692 | 1.6E-94 |
|
group | 0.100 | None | 1.000 | 15 | 2 | 2000 | 2015 | ||||||||
|
dynein axonemal heavy chain 5 | 0.590 | 0.692 | 4.9E-64 |
|
group | 0.100 | None | 1.000 | 6 | 4 | 2002 | 2013 | ||||||||
|
myosin XVA | 0.722 | 0.346 | 1.3E-56 |
|
group | 0.100 | None | 1.000 | 6 | 2 | 1995 | 2016 | ||||||||
|
abnormal spindle microtubule assembly | 0.526 | 0.769 | 3.4E-49 |
|
group | 0.100 | None | 1.000 | 10 | 4 | 2002 | 2016 | ||||||||
|
nebulin | 0.608 | 0.692 | 4.6E-41 |
|
group | 0.100 | None | 1.000 | 12 | 2 | 1988 | 2017 | ||||||||
|
IQ motif containing E | 0.805 | 0.115 | 1.4E-39 |
|
group | 0.100 | None | 1.000 | 12 | 1 | 1986 | 2017 | ||||||||
|
DNA methyltransferase 3 alpha | 0.445 | 0.846 | 7.4E-39 |
|
group | 0.100 | None | 1.000 | 36 | 1 | 1989 | 2018 | ||||||||
|
myosin VIIA | 0.585 | 0.423 | 1.6E-38 |
|
group | 0.100 | None | 1.000 | 13 | 2 | 1995 | 2011 | ||||||||
|
ciliogenesis and planar polarity effector 1 | 0.575 | 0.692 | 5.9E-36 |
|
group | 0.100 | None | 1.000 | 6 | 1 | 2011 | 2015 | ||||||||
|
RecQ like helicase 4 | 0.496 | 0.808 | 3.3E-35 |
|
group | 0.100 | None | 1.000 | 5 | 2 | 2006 | 2015 | ||||||||
|
sterile alpha motif domain containing 9 | 0.606 | 0.808 | 1.1E-33 |
|
group | 0.100 | None | 1.000 | 4 | 1 | 2006 | 2016 | ||||||||
|
von Willebrand factor | 0.408 | 0.885 | 3.2E-25 |
|
group | 0.100 | None | 1.000 | 13 | 1 | 1987 | 2015 | ||||||||
|
checkpoint kinase 2 | 0.460 | 0.808 | 1.2E-24 |
|
group | 0.100 | None | 1.000 | 14 | 1 | 2001 | 2015 | ||||||||
|
transmembrane protein 67 | 0.512 | 0.769 | 2.1E-24 |
|
group | 0.100 | None | 1.000 | 10 | 2 | 1999 | 2016 | ||||||||
|
kinesin family member 7 | 0.528 | 0.731 | 2.3E-22 |
|
group | 0.100 | None | 1.000 | 8 | 1 | 1980 | 2015 | ||||||||
|
mannosidase alpha class 2B member 1 | 0.674 | 0.462 | 4.8E-22 |
|
group | 0.100 | None | 1.000 | 6 | 2 | 1981 | 2015 | ||||||||
|
cholinergic receptor nicotinic gamma subunit | 0.573 | 0.692 | 3.3E-19 |
|
group | 0.100 | None | 1.000 | 5 | 1 | 2006 | 2016 | ||||||||
|
N-acetylglucosamine-1-phosphate transferase subunits alpha and beta | 0.592 | 0.731 | 7.7E-19 |
|
group | 0.100 | None | 1.000 | 9 | 2 | 2005 | 2016 | ||||||||
|
glucosidase alpha, acid | 0.631 | 0.577 | 2.8E-18 |
|
group | 0.100 | None | 1.000 | 18 | 2 | 1988 | 2015 | ||||||||
|
alanyl-tRNA synthetase 2, mitochondrial | 0.644 | 0.500 | 5.0E-17 |
|
group | 0.100 | None | 1.000 | 4 | 2 | 2011 | 2014 | ||||||||
|
tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase | 0.716 | 0.385 | 1.5E-16 |
|
group | 0.100 | None | 1.000 | 7 | 2 | 2009 | 2015 | ||||||||
|
transient receptor potential cation channel subfamily V member 4 | 0.457 | 0.808 | 2.2E-16 |
|
group | 0.100 | None | 1.000 | 24 | 2 | 1976 | 2017 |