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. | ||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
DNA polymerase gamma, catalytic subunit | 0.457 | 0.846 | 2.1E-09 |
|
disease | 0.100 | None | 1.000 | 6 | 2 | 2002 | 2017 | ||||||||
|
chromodomain helicase DNA binding protein 8 | 0.656 | 0.577 | 1.00 |
|
disease | 0.700 | moderate | 1.000 | 4 | 1 | 2012 | 2019 | ||||||||
|
UPF3B regulator of nonsense mediated mRNA decay | 0.619 | 0.615 | 0.98 |
|
disease | 0.120 | None | 1.000 | 3 | 1 | 2007 | 2013 | ||||||||
|
N-acetylglucosamine-1-phosphate transferase subunits alpha and beta | 0.592 | 0.731 | 7.7E-19 |
|
disease | 0.100 | None | 1.000 | 3 | 1 | 2006 | 2014 | ||||||||
|
plakophilin 2 | 0.606 | 0.538 | 3.1E-18 |
|
disease | 0.100 | None | 1.000 | 3 | 1 | 2004 | 2012 | ||||||||
|
phosphatase and tensin homolog | 0.305 | 0.923 | 0.26 |
|
disease | 0.500 | None | 1.000 | 2 | 2 | 2001 | 2020 | ||||||||
|
ring finger protein, LIM domain interacting | 0.686 | 0.500 | 0.99 |
|
disease | 0.100 | None | 1.000 | 1 | 1 | 2015 | 2015 | ||||||||
|
calcium voltage-gated channel subunit alpha1 A | 0.489 | 0.769 | 1.00 |
|
disease | 0.110 | None | 1.000 | 1 | 1 | 2015 | 2015 | ||||||||
|
FLG antisense RNA 1 | 0.700 | 0.538 |
|
disease | 0.100 | None | 1.000 | 1 | 1 | 2006 | 2006 | |||||||||
|
BR serine/threonine kinase 2 | 0.700 | 0.500 | 0.95 |
|
disease | 0.400 | strong | 1.000 | 1 | 1 | 2017 | 2019 | ||||||||
|
filaggrin | 0.525 | 0.846 | 2.9E-04 |
|
disease | 0.100 | None | 1.000 | 1 | 1 | 2006 | 2006 | ||||||||
|
sodium voltage-gated channel alpha subunit 2 | 0.518 | 0.731 | 1.00 |
|
disease | 0.150 | None | 1.000 | 0 | 2 | 2014 | 2019 | ||||||||
|
sodium voltage-gated channel alpha subunit 1 | 0.477 | 0.808 | 1.00 |
|
disease | 0.110 | None | 1.000 | 0 | 1 | 2009 | 2009 | ||||||||
|
ryanodine receptor 1 | 0.489 | 0.808 | 1.6E-29 |
|
disease | 0.100 | None | 0 | 1 | |||||||||||
|
formin 2 | 0.610 | 0.538 | 1.00 |
|
disease | 0.100 | None | 0 | 1 | |||||||||||
|
proline rich 12 | 0.716 | 0.385 | 1.00 |
|
disease | 0.100 | None | 0 | 3 | |||||||||||
|
BRCA2 DNA repair associated | 0.379 | 0.846 | 2.4E-25 |
|
disease | 0.100 | None | 0 | 1 | |||||||||||
|
nuclear receptor binding SET domain protein 1 | 0.505 | 0.769 | 1.00 |
|
disease | 0.410 | None | 1.000 | 0 | 1 | 2007 | 2007 | ||||||||
|
SRY-box transcription factor 11 | 0.494 | 0.808 | 0.86 |
|
disease | 0.100 | None | 0 | 1 | |||||||||||
|
forkhead box N1 | 0.615 | 0.654 | 0.94 |
|
disease | 0.100 | None | 0 | 1 | |||||||||||
|
TNF receptor associated factor 7 | 0.623 | 0.423 | 2.2E-02 |
|
disease | 0.100 | None | 0 | 1 | |||||||||||
|
calcium/calmodulin dependent protein kinase II gamma | 0.670 | 0.462 | 1.00 |
|
disease | 0.100 | None | 0 | 1 | |||||||||||
|
steroid 5 alpha-reductase 3 | 0.604 | 0.692 | 2.5E-04 |
|
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 | |||||||||||
|
polycomb group ring finger 2 | 0.579 | 0.615 | 0.86 |
|
disease | 0.100 | None | 0 | 1 |