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. | ||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
BRCA1 DNA repair associated | 0.367 | 0.923 | 9.2E-29 |
|
disease | 0.800 | strong | 0.986 | 800 | 874 | 1990 | 2020 | ||||||||
|
BRCA2 DNA repair associated | 0.379 | 0.846 | 2.4E-25 |
|
disease | 0.800 | strong | 0.993 | 714 | 1160 | 1990 | 2020 | ||||||||
|
RAD51 paralog C | 0.533 | 0.692 | 6.2E-14 |
|
disease | 0.500 | None | 1.000 | 20 | 14 | 2010 | 2020 | ||||||||
|
tumor protein p53 | 0.236 | 0.962 | 0.53 |
|
disease | 0.500 | None | 0.941 | 5 | 2 | 1994 | 2019 | ||||||||
|
partner and localizer of BRCA2 | 0.485 | 0.769 | 3.0E-19 |
|
disease | 0.460 | None | 0.970 | 26 | 17 | 2007 | 2019 | ||||||||
|
checkpoint kinase 2 | 0.460 | 0.808 | 1.2E-24 |
|
disease | 0.460 | None | 1.000 | 25 | 6 | 2003 | 2019 | ||||||||
|
RAD51 paralog D | 0.674 | 0.385 | 1.1E-09 |
|
disease | 0.420 | None | 1.000 | 17 | 7 | 2010 | 2018 | ||||||||
|
BRCA1 interacting protein C-terminal helicase 1 | 0.507 | 0.731 | 6.2E-17 |
|
disease | 0.410 | None | 1.000 | 13 | 9 | 2005 | 2019 | ||||||||
|
BRCA1 associated RING domain 1 | 0.597 | 0.538 | 1.4E-24 |
|
disease | 0.400 | None | 1.000 | 12 | 5 | 2004 | 2017 | ||||||||
|
MRE11 homolog, double strand break repair nuclease | 0.527 | 0.808 | 1.3E-12 |
|
disease | 0.400 | None | 1.000 | 1 | 1 | 2003 | 2016 | ||||||||
|
nibrin | 0.467 | 0.808 | 2.2E-16 |
|
disease | 0.400 | None | 1.000 | 1 | 2 | 2003 | 2014 | ||||||||
|
ATM serine/threonine kinase | 0.374 | 0.885 | 5.6E-47 |
|
disease | 0.160 | None | 0.875 | 2 | 6 | 2000 | 2018 | ||||||||
|
mutL homolog 1 | 0.399 | 0.808 | 3.4E-05 |
|
disease | 0.150 | None | 1.000 | 0 | 1 | 2000 | 2015 | ||||||||
|
chromosome 11 open reading frame 65 | 0.670 | 0.462 | 2.0E-14 |
|
disease | 0.100 | None | 1.000 | 1 | 4 | 2016 | 2016 | ||||||||
|
RAD51 paralog B | 0.556 | 0.769 | 2.1E-15 |
|
disease | 0.100 | None | 1.000 | 1 | 1 | 2016 | 2016 | ||||||||
|
ribosomal protein L21 pseudogene 4 | 1.000 | 0.192 |
|
disease | 0.100 | None | 0 | 1 | ||||||||||||
|
abraxas 1, BRCA1 A complex subunit | 0.760 | 0.269 | 5.1E-07 |
|
disease | 0.100 | None | 0 | 1 |