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. | ||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
poly(U) binding splicing factor 60 | 0.536 | 0.769 | 1.00 |
|
disease | 0.100 | None | 0 | 1 | |||||||||||
|
SH3 and multiple ankyrin repeat domains 2 | 0.663 | 0.385 | 8.4E-07 |
|
disease | 0.100 | None | 0 | 1 | |||||||||||
|
mediator complex subunit 13L | 0.617 | 0.538 | 1.00 |
|
disease | 0.100 | None | 0 | 1 | |||||||||||
|
dynein cytoplasmic 1 heavy chain 1 | 0.547 | 0.769 | 1.00 |
|
disease | 0.100 | None | 0 | 1 | |||||||||||
|
DEAD-box helicase 3 X-linked | 0.537 | 0.769 | 1.00 |
|
disease | 0.100 | None | 0 | 1 | |||||||||||
|
vacuolar protein sorting 13 homolog B | 0.579 | 0.769 | 2.5E-45 |
|
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 | ||||||||
|
BR serine/threonine kinase 2 | 0.700 | 0.500 | 0.95 |
|
disease | 0.100 | None | 1.000 | 1 | 1 | 2019 | 2019 | ||||||||
|
calcium voltage-gated channel subunit alpha1 A | 0.489 | 0.769 | 1.00 |
|
disease | 0.100 | None | 1.000 | 1 | 3 | 2015 | 2015 | ||||||||
|
mitochondrial methionyl-tRNA formyltransferase | 0.595 | 0.808 | 1.5E-07 |
|
disease | 0.100 | None | 1.000 | 2 | 1 | 2011 | 2014 | ||||||||
|
DNA polymerase gamma, catalytic subunit | 0.457 | 0.846 | 2.1E-09 |
|
disease | 0.100 | None | 1.000 | 3 | 1 | 2010 | 2017 | ||||||||
|
melanocyte inducing transcription factor | 0.499 | 0.808 | 0.98 |
|
disease | 0.100 | None | 1.000 | 4 | 1 | 2011 | 2016 | ||||||||
|
succinate dehydrogenase complex flavoprotein subunit A | 0.517 | 0.731 | 2.6E-10 |
|
disease | 0.100 | None | 1.000 | 4 | 1 | 2010 | 2017 | ||||||||
|
BRCA2 DNA repair associated | 0.379 | 0.846 | 2.4E-25 |
|
disease | 0.100 | None | 1.000 | 6 | 1 | 2005 | 2013 |