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. | ||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF | 0.736 | 0.538 | 1.9E-164 |
|
disease | 0.320 | limited | 1.000 | 4 | 0 | 2001 | 2019 | ||||||||
|
titin | 0.470 | 0.885 | 2.6E-96 |
|
disease | 0.500 | limited | 1.000 | 9 | 0 | 1996 | 2019 | ||||||||
|
usherin | 0.579 | 0.692 | 1.6E-94 |
|
disease | 0.690 | definitive | 1.000 | 8 | 0 | 1994 | 2018 | ||||||||
|
leucine zipper like transcription regulator 1 | 0.547 | 0.808 | 1.0E-92 |
|
disease | 0.900 | strong | 1.000 | 3 | 0 | 2014 | 2020 | ||||||||
|
leucine zipper like transcription regulator 1 | 0.547 | 0.808 | 1.0E-92 |
|
disease | 0.300 | 0 | 0 | ||||||||||||
|
leucine zipper like transcription regulator 1 | 0.547 | 0.808 | 1.0E-92 |
|
disease | 0.300 | 0 | 0 | ||||||||||||
|
leucine zipper like transcription regulator 1 | 0.547 | 0.808 | 1.0E-92 |
|
disease | 0.300 | 0 | 0 | ||||||||||||
|
leucine zipper like transcription regulator 1 | 0.547 | 0.808 | 1.0E-92 |
|
disease | 0.300 | 0 | 0 | ||||||||||||
|
leucine zipper like transcription regulator 1 | 0.547 | 0.808 | 1.0E-92 |
|
disease | 0.300 | 0 | 0 | ||||||||||||
|
FA complementation group A | 0.505 | 0.731 | 1.6E-68 |
|
disease | 0.500 | definitive | 1.000 | 6 | 0 | 1996 | 2018 | ||||||||
|
FA complementation group A | 0.505 | 0.731 | 1.6E-68 |
|
disease | 0.500 | definitive | 1.000 | 6 | 0 | 1996 | 2018 | ||||||||
|
FA complementation group A | 0.505 | 0.731 | 1.6E-68 |
|
disease | 1.000 | definitive | 0.986 | 6 | 0 | 1996 | 2020 | ||||||||
|
ALMS1 centrosome and basal body associated protein | 0.559 | 0.808 | 4.5E-60 |
|
disease | 1.000 | definitive | 1.000 | 5 | 0 | 1998 | 2020 | ||||||||
|
myosin XVA | 0.722 | 0.346 | 1.3E-56 |
|
disease | 0.480 | definitive | 1.000 | 8 | 0 | 1998 | 2016 | ||||||||
|
otogelin like | 0.805 | 0.269 | 4.7E-52 |
|
disease | 0.310 | definitive | 1.000 | 5 | 0 | 2012 | 2017 | ||||||||
|
ATM serine/threonine kinase | 0.374 | 0.885 | 5.6E-47 |
|
group | 0.300 | moderate | 1.000 | 6 | 0 | 2012 | 2017 | ||||||||
|
ATM serine/threonine kinase | 0.374 | 0.885 | 5.6E-47 |
|
disease | 0.300 | moderate | 1.000 | 6 | 0 | 2012 | 2017 | ||||||||
|
ATM serine/threonine kinase | 0.374 | 0.885 | 5.6E-47 |
|
disease | 0.330 | moderate | 1.000 | 6 | 0 | 2005 | 2018 | ||||||||
|
ATM serine/threonine kinase | 0.374 | 0.885 | 5.6E-47 |
|
disease | 0.300 | moderate | 1.000 | 6 | 0 | 2012 | 2017 | ||||||||
|
ATM serine/threonine kinase | 0.374 | 0.885 | 5.6E-47 |
|
disease | 0.300 | moderate | 1.000 | 6 | 0 | 2012 | 2017 | ||||||||
|
ATM serine/threonine kinase | 0.374 | 0.885 | 5.6E-47 |
|
disease | 0.400 | definitive | 1.000 | 5 | 0 | 1998 | 2019 | ||||||||
|
myosin IIIA | 0.780 | 0.269 | 1.8E-45 |
|
disease | 0.310 | strong | 1.000 | 5 | 0 | 2002 | 2018 | ||||||||
|
vacuolar protein sorting 13 homolog B | 0.579 | 0.769 | 2.5E-45 |
|
phenotype | 0.300 | definitive | 1.000 | 8 | 0 | 2003 | 2018 | ||||||||
|
nebulin | 0.608 | 0.692 | 4.6E-41 |
|
disease | 0.920 | definitive | 1.000 | 9 | 0 | 1998 | 2018 | ||||||||
|
myomesin 1 | 0.839 | 0.269 | 1.7E-40 |
|
disease | 0.300 | limited | 1.000 | 2 | 0 | 2011 | 2011 |