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. | ||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
BR serine/threonine kinase 2 | 0.700 | 0.500 | 0.95 |
|
disease | 0.100 | None | 1.000 | 1 | 1 | 2019 | 2019 | ||||||||
|
BRCA2 DNA repair associated | 0.379 | 0.846 | 2.4E-25 |
|
disease | 0.100 | None | 1.000 | 6 | 1 | 2005 | 2013 | ||||||||
|
calcium voltage-gated channel subunit alpha1 A | 0.489 | 0.769 | 1.00 |
|
disease | 0.100 | None | 1.000 | 1 | 3 | 2015 | 2015 | ||||||||
|
chromatin assembly factor 1 subunit B | 0.663 | 0.538 | 0.43 |
|
disease | 0.100 | None | 0 | 1 | |||||||||||
|
chromodomain helicase DNA binding protein 2 | 0.585 | 0.577 | 1.00 |
|
disease | 0.100 | None | 0 | 1 | |||||||||||
|
chromosome 12 open reading frame 4 | 0.691 | 0.308 | 1.1E-05 |
|
disease | 0.100 | None | 0 | 1 | |||||||||||
|
chromosome 12 open reading frame 57 | 0.641 | 0.500 | 5.2E-05 |
|
disease | 0.100 | None | 0 | 1 | |||||||||||
|
CREB binding protein | 0.428 | 0.808 | 1.00 |
|
disease | 0.100 | None | 0 | 1 | |||||||||||
|
cyclin dependent kinase 20 | 0.682 | 0.462 | 5.9E-14 |
|
disease | 0.100 | None | 0 | 1 | |||||||||||
|
DEAD-box helicase 3 X-linked | 0.537 | 0.769 | 1.00 |
|
disease | 0.100 | None | 0 | 1 | |||||||||||
|
DNA polymerase gamma, catalytic subunit | 0.457 | 0.846 | 2.1E-09 |
|
disease | 0.100 | None | 1.000 | 3 | 1 | 2010 | 2017 | ||||||||
|
dynein cytoplasmic 1 heavy chain 1 | 0.547 | 0.769 | 1.00 |
|
disease | 0.100 | None | 0 | 1 | |||||||||||
|
Fas cell surface death receptor | 0.372 | 0.923 | 0.81 |
|
disease | 0.110 | None | 1.000 | 0 | 1 | 2012 | 2012 | ||||||||
|
G protein subunit beta 5 | 0.736 | 0.308 | 6.4E-08 |
|
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 | ||||||||
|
GNAS complex locus | 0.420 | 0.885 | 0.68 |
|
disease | 0.100 | None | 0 | 1 | |||||||||||
|
HIVEP zinc finger 1 | 0.711 | 0.500 | 1.00 |
|
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 | |||||||||||
|
kinesin family member 5B | 0.604 | 0.538 | 0.99 |
|
disease | 0.100 | None | 0 | 1 | |||||||||||
|
kinesin family member 7 | 0.528 | 0.731 | 2.3E-22 |
|
disease | 0.100 | None | 0 | 1 | |||||||||||
|
laminin subunit alpha 1 | 0.582 | 0.808 | 3.2E-32 |
|
disease | 0.100 | None | 0 | 1 | |||||||||||
|
MAGE family member D2 | 0.691 | 0.462 | 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 | ||||||||
|
mediator complex subunit 13L | 0.617 | 0.538 | 1.00 |
|
disease | 0.100 | None | 0 | 1 | |||||||||||
|
melanocyte inducing transcription factor | 0.499 | 0.808 | 0.98 |
|
disease | 0.100 | None | 1.000 | 4 | 1 | 2011 | 2016 |