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. | ||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
DNA polymerase epsilon, catalytic subunit | 0.526 | 0.731 | 8.0E-27 |
|
group | 0.100 | None | 1.000 | 6 | 2 | 1996 | 2015 | ||||||||
|
transmembrane protein 127 | 0.638 | 0.615 | 1.3E-02 |
|
group | 0.100 | None | 1.000 | 4 | 6 | 2010 | 2016 | ||||||||
|
X-ray repair cross complementing 2 | 0.512 | 0.731 | 4.0E-07 |
|
group | 0.100 | None | 1.000 | 3 | 2 | 2012 | 2017 | ||||||||
|
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 | 0.450 | 0.885 | 1.00 |
|
group | 0.100 | None | 1.000 | 2 | 4 | 2011 | 2014 | ||||||||
|
target of EGR1, exonuclease | 0.682 | 0.462 | 6.0E-16 |
|
group | 0.100 | None | 1.000 | 2 | 2 | 2006 | 2007 | ||||||||
|
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 | 0.434 | 0.846 | 1.00 |
|
group | 0.100 | None | 1.000 | 1 | 1 | 2010 | 2010 | ||||||||
|
CDKN2B antisense RNA 1 | 0.491 | 0.769 |
|
group | 0.100 | None | 0 | 1 | ||||||||||||
|
abraxas 1, BRCA1 A complex subunit | 0.760 | 0.269 | 5.1E-07 |
|
group | 0.100 | None | 0 | 1 | |||||||||||
|
cyclin dependent kinase 4 | 0.412 | 0.808 | 6.3E-02 |
|
group | 0.100 | None | 0 | 1 | |||||||||||
|
nth like DNA glycosylase 1 | 0.623 | 0.615 | 5.7E-10 |
|
group | 0.100 | None | 0 | 1 | |||||||||||
|
RecQ like helicase | 0.615 | 0.615 | 1.5E-20 |
|
group | 0.100 | None | 0 | 4 | |||||||||||
|
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 | 0.572 | 0.769 | 1.00 |
|
group | 0.100 | None | 0 | 1 | |||||||||||
|
mitochondrial ribosomal protein S18C | 0.890 | 0.154 | 8.8E-05 |
|
group | 0.100 | None | 0 | 1 | |||||||||||
|
homeostatic iron regulator | 0.436 | 0.846 | 2.6E-08 |
|
group | 0.100 | None | 0 | 1 | |||||||||||
|
catenin alpha 1 | 0.584 | 0.538 | 0.97 |
|
group | 0.100 | None | 0 | 1 | |||||||||||
|
RAD51 paralog B | 0.556 | 0.769 | 2.1E-15 |
|
group | 0.100 | None | 0 | 1 | |||||||||||
|
exostosin glycosyltransferase 2 | 0.576 | 0.654 | 1.3E-09 |
|
group | 0.100 | None | 0 | 1 |