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. | ||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
T helper type 2 locus control region associated RNA | 0.751 | 0.385 |
|
group | 0.100 | None | 1.000 | 10 | 22 | 2000 | 2017 | |||||||||
|
CDKN2B antisense RNA 1 | 0.491 | 0.769 |
|
group | 0.100 | None | 0 | 1 | ||||||||||||
|
ATM serine/threonine kinase | 0.374 | 0.885 | 5.6E-47 |
|
group | 0.100 | None | 1.000 | 233 | 561 | 1989 | 2018 | ||||||||
|
BRCA1 DNA repair associated | 0.367 | 0.923 | 9.2E-29 |
|
group | 0.150 | None | 1.000 | 744 | 705 | 1975 | 2019 | ||||||||
|
RAD50 double strand break repair protein | 0.556 | 0.808 | 3.4E-27 |
|
group | 0.100 | None | 1.000 | 31 | 164 | 1999 | 2017 | ||||||||
|
PMS1 homolog 2, mismatch repair system component | 0.484 | 0.808 | 4.5E-27 |
|
group | 0.110 | None | 1.000 | 112 | 124 | 1995 | 2018 | ||||||||
|
DNA polymerase epsilon, catalytic subunit | 0.526 | 0.731 | 8.0E-27 |
|
group | 0.100 | None | 1.000 | 6 | 2 | 1996 | 2015 | ||||||||
|
BRCA2 DNA repair associated | 0.379 | 0.846 | 2.4E-25 |
|
group | 0.130 | None | 1.000 | 701 | 1021 | 1996 | 2019 | ||||||||
|
checkpoint kinase 2 | 0.460 | 0.808 | 1.2E-24 |
|
group | 0.100 | None | 1.000 | 106 | 133 | 1999 | 2019 | ||||||||
|
BRCA1 associated RING domain 1 | 0.597 | 0.538 | 1.4E-24 |
|
group | 0.100 | None | 1.000 | 28 | 105 | 2003 | 2017 | ||||||||
|
RecQ like helicase | 0.615 | 0.615 | 1.5E-20 |
|
group | 0.100 | None | 0 | 4 | |||||||||||
|
partner and localizer of BRCA2 | 0.485 | 0.769 | 3.0E-19 |
|
group | 0.100 | None | 1.000 | 110 | 293 | 2007 | 2017 | ||||||||
|
mutY DNA glycosylase | 0.521 | 0.769 | 1.3E-18 |
|
group | 0.100 | None | 1.000 | 123 | 83 | 2001 | 2017 | ||||||||
|
BRCA1 interacting protein C-terminal helicase 1 | 0.507 | 0.731 | 6.2E-17 |
|
group | 0.100 | None | 1.000 | 56 | 145 | 2004 | 2017 | ||||||||
|
nibrin | 0.467 | 0.808 | 2.2E-16 |
|
group | 0.100 | None | 1.000 | 36 | 92 | 1998 | 2017 | ||||||||
|
target of EGR1, exonuclease | 0.682 | 0.462 | 6.0E-16 |
|
group | 0.100 | None | 1.000 | 2 | 2 | 2006 | 2007 | ||||||||
|
BLM RecQ like helicase | 0.535 | 0.808 | 1.5E-15 |
|
group | 0.100 | None | 1.000 | 26 | 10 | 1995 | 2016 | ||||||||
|
RAD51 paralog B | 0.556 | 0.769 | 2.1E-15 |
|
group | 0.100 | None | 0 | 1 | |||||||||||
|
chromosome 11 open reading frame 65 | 0.670 | 0.462 | 2.0E-14 |
|
group | 0.100 | None | 1.000 | 159 | 220 | 1996 | 2018 | ||||||||
|
RAD51 paralog C | 0.533 | 0.692 | 6.2E-14 |
|
group | 0.100 | None | 1.000 | 50 | 65 | 2002 | 2017 | ||||||||
|
FA complementation group C | 0.507 | 0.808 | 2.8E-13 |
|
group | 0.100 | None | 1.000 | 23 | 6 | 1993 | 2017 | ||||||||
|
MRE11 homolog, double strand break repair nuclease | 0.527 | 0.808 | 1.3E-12 |
|
group | 0.100 | None | 1.000 | 21 | 55 | 1999 | 2017 | ||||||||
|
succinate dehydrogenase complex flavoprotein subunit A | 0.517 | 0.731 | 2.6E-10 |
|
group | 0.100 | None | 1.000 | 42 | 28 | 1995 | 2018 | ||||||||
|
nth like DNA glycosylase 1 | 0.623 | 0.615 | 5.7E-10 |
|
group | 0.100 | None | 0 | 1 | |||||||||||
|
RAD51 paralog D | 0.674 | 0.385 | 1.1E-09 |
|
group | 0.100 | None | 1.000 | 31 | 51 | 1982 | 2018 |