Source: CLINVAR
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. | ||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
vacuolar protein sorting 13 homolog B | 0.579 | 0.769 | 2.5E-45 |
|
disease | 0.100 | None | 0 | 1 | |||||||||||
|
transmembrane protein 47 | 0.821 | 0.154 | 0.80 |
|
disease | 0.100 | None | 0 | 1 | |||||||||||
|
transcription factor 20 | 0.644 | 0.423 | 1.00 |
|
disease | 0.100 | None | 0 | 1 | |||||||||||
|
Tax1 binding protein 3 | 0.716 | 0.615 | 5.2E-03 |
|
disease | 0.100 | None | 0 | 1 | |||||||||||
|
succinate dehydrogenase complex flavoprotein subunit A | 0.517 | 0.731 | 2.6E-10 |
|
disease | 0.100 | None | 1.000 | 4 | 1 | 2010 | 2017 | ||||||||
|
SH3 and multiple ankyrin repeat domains 2 | 0.663 | 0.385 | 8.4E-07 |
|
disease | 0.100 | None | 0 | 1 | |||||||||||
|
S-phase cyclin A associated protein in the ER | 0.653 | 0.500 | 8.8E-03 |
|
disease | 0.100 | None | 1.000 | 1 | 1 | 2017 | 2017 | ||||||||
|
retinoic acid induced 1 | 0.545 | 0.731 | 1.00 |
|
disease | 0.100 | None | 0 | 1 | |||||||||||
|
poly(U) binding splicing factor 60 | 0.536 | 0.769 | 1.00 |
|
disease | 0.100 | None | 0 | 1 | |||||||||||
|
pleckstrin homology domain interacting protein | 0.595 | 0.769 | 1.00 |
|
disease | 0.100 | None | 0 | 6 | |||||||||||
|
phosphatase and tensin homolog | 0.305 | 0.923 | 0.26 |
|
disease | 0.120 | None | 1.000 | 0 | 8 | 2009 | 2013 | ||||||||
|
P2RX5-TAX1BP3 readthrough (NMD candidate) | 0.588 | 0.769 |
|
disease | 0.100 | None | 0 | 1 | ||||||||||||
|
mitochondrial methionyl-tRNA formyltransferase | 0.595 | 0.808 | 1.5E-07 |
|
disease | 0.100 | None | 1.000 | 2 | 1 | 2011 | 2014 | ||||||||
|
methyl-CpG binding protein 2 | 0.414 | 0.846 | 0.89 |
|
disease | 0.130 | None | 1.000 | 0 | 1 | 2009 | 2020 | ||||||||
|
melanocyte inducing transcription factor | 0.499 | 0.808 | 0.98 |
|
disease | 0.100 | None | 1.000 | 4 | 1 | 2011 | 2016 | ||||||||
|
mediator complex subunit 13L | 0.617 | 0.538 | 1.00 |
|
disease | 0.100 | None | 0 | 1 | |||||||||||
|
mediator complex subunit 13 | 0.711 | 0.538 | 1.00 |
|
disease | 0.400 | moderate | 1.000 | 0 | 1 | 2018 | 2018 | ||||||||
|
MAGE family member D2 | 0.691 | 0.462 | 1.00 |
|
disease | 0.100 | None | 0 | 1 | |||||||||||
|
laminin subunit alpha 1 | 0.582 | 0.808 | 3.2E-32 |
|
disease | 0.100 | None | 0 | 1 | |||||||||||
|
kinesin family member 7 | 0.528 | 0.731 | 2.3E-22 |
|
disease | 0.100 | None | 0 | 1 | |||||||||||
|
kinesin family member 5B | 0.604 | 0.538 | 0.99 |
|
disease | 0.100 | None | 0 | 1 | |||||||||||
|
interleukin 1 receptor associated kinase 1 binding protein 1 | 0.780 | 0.346 | 1.4E-06 |
|
disease | 0.100 | None | 0 | 3 | |||||||||||
|
HIVEP zinc finger 1 | 0.711 | 0.500 | 1.00 |
|
disease | 0.100 | None | 0 | 1 | |||||||||||
|
GNAS complex locus | 0.420 | 0.885 | 0.68 |
|
disease | 0.100 | None | 0 | 1 | |||||||||||
|
gap junction protein beta 2 | 0.441 | 0.846 | 6.6E-16 |
|
disease | 0.120 | None | 1.000 | 0 | 1 | 2006 | 2006 |