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 |
|
phenotype | 0.100 | None | 1.000 | 14 | 3 | 1991 | 2014 | |||||||||
|
NR2F1 antisense RNA 1 | 0.780 | 0.308 |
|
phenotype | 0.100 | None | 1.000 | 12 | 1 | 1999 | 2017 | |||||||||
|
AP4B1 antisense RNA 1 | 0.805 | 0.231 |
|
phenotype | 0.100 | None | 1.000 | 10 | 3 | 2009 | 2016 | |||||||||
|
SRD5A3 antisense RNA 1 | 0.931 | 0.077 |
|
phenotype | 0.100 | None | 1.000 | 7 | 1 | 2010 | 2017 | |||||||||
|
FLG antisense RNA 1 | 0.700 | 0.538 |
|
phenotype | 0.100 | None | 1.000 | 6 | 1 | 1966 | 2013 | |||||||||
|
BDNF antisense RNA | 0.638 | 0.538 |
|
phenotype | 0.100 | None | 1.000 | 6 | 1 | 2001 | 2018 | |||||||||
|
EMC1 antisense RNA 1 | 0.792 | 0.385 |
|
phenotype | 0.100 | None | 1.000 | 2 | 1 | 2013 | 2016 | |||||||||
|
RNA, U4atac small nuclear (U12-dependent splicing) | 0.556 | 0.808 |
|
phenotype | 0.100 | None | 0 | 2 | ||||||||||||
|
titin | 0.470 | 0.885 | 2.6E-96 |
|
phenotype | 0.100 | None | 1.000 | 14 | 3 | 1991 | 2014 | ||||||||
|
dynein axonemal heavy chain 5 | 0.590 | 0.692 | 4.9E-64 |
|
phenotype | 0.100 | None | 1.000 | 6 | 1 | 2002 | 2013 | ||||||||
|
centrosomal protein 290 | 0.517 | 0.769 | 1.1E-60 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
abnormal spindle microtubule assembly | 0.526 | 0.769 | 3.4E-49 |
|
phenotype | 0.100 | None | 1.000 | 10 | 1 | 2002 | 2016 | ||||||||
|
laminin subunit alpha 2 | 0.553 | 0.692 | 2.4E-47 |
|
phenotype | 0.100 | None | 1.000 | 6 | 2 | 2003 | 2016 | ||||||||
|
vacuolar protein sorting 13 homolog B | 0.579 | 0.769 | 2.5E-45 |
|
phenotype | 0.100 | None | 1.000 | 12 | 4 | 1998 | 2015 | ||||||||
|
nebulin | 0.608 | 0.692 | 4.6E-41 |
|
phenotype | 0.100 | None | 1.000 | 12 | 1 | 1988 | 2017 | ||||||||
|
DNA methyltransferase 3 alpha | 0.445 | 0.846 | 7.4E-39 |
|
phenotype | 0.100 | None | 1.000 | 36 | 2 | 1989 | 2018 | ||||||||
|
SPG7 matrix AAA peptidase subunit, paraplegin | 0.436 | 0.885 | 2.0E-36 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
ciliogenesis and planar polarity effector 1 | 0.575 | 0.692 | 5.9E-36 |
|
phenotype | 0.100 | None | 1.000 | 6 | 1 | 2011 | 2015 | ||||||||
|
FIG4 phosphoinositide 5-phosphatase | 0.551 | 0.731 | 2.3E-34 |
|
phenotype | 0.100 | None | 1.000 | 7 | 2 | 1993 | 2015 | ||||||||
|
laminin subunit alpha 1 | 0.582 | 0.808 | 3.2E-32 |
|
phenotype | 0.100 | None | 1.000 | 14 | 1 | 1981 | 2016 | ||||||||
|
ryanodine receptor 1 | 0.489 | 0.808 | 1.6E-29 |
|
phenotype | 0.100 | None | 1.000 | 12 | 5 | 1973 | 2013 | ||||||||
|
coiled-coil and C2 domain containing 2A | 0.532 | 0.692 | 1.7E-27 |
|
phenotype | 0.100 | None | 1.000 | 6 | 2 | 2009 | 2017 | ||||||||
|
ER membrane protein complex subunit 1 | 0.700 | 0.462 | 6.7E-26 |
|
phenotype | 0.100 | None | 1.000 | 2 | 1 | 2013 | 2016 | ||||||||
|
BRCA2 DNA repair associated | 0.379 | 0.846 | 2.4E-25 |
|
phenotype | 0.100 | None | 1.000 | 10 | 2 | 1998 | 2011 | ||||||||
|
transmembrane protein 67 | 0.512 | 0.769 | 2.1E-24 |
|
phenotype | 0.100 | None | 1.000 | 10 | 2 | 1999 | 2016 |