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. | ||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
BRCA2 DNA repair associated | 0.379 | 0.846 | 2.4E-25 |
|
group | 0.130 | None | 1.000 | 701 | 1021 | 1996 | 2019 | ||||||||
|
BRCA1 DNA repair associated | 0.367 | 0.923 | 9.2E-29 |
|
group | 0.150 | None | 1.000 | 744 | 705 | 1975 | 2019 | ||||||||
|
ATM serine/threonine kinase | 0.374 | 0.885 | 5.6E-47 |
|
group | 0.100 | None | 1.000 | 233 | 561 | 1989 | 2018 | ||||||||
|
mutS homolog 6 | 0.462 | 0.731 | 3.7E-05 |
|
group | 0.110 | None | 1.000 | 190 | 331 | 1994 | 2018 | ||||||||
|
F-box protein 11 | 0.604 | 0.692 | 1.00 |
|
group | 0.100 | None | 1.000 | 187 | 321 | 1994 | 2017 | ||||||||
|
mutS homolog 2 | 0.406 | 0.808 | 0.90 |
|
group | 0.130 | None | 1.000 | 320 | 309 | 1990 | 2018 | ||||||||
|
partner and localizer of BRCA2 | 0.485 | 0.769 | 3.0E-19 |
|
group | 0.100 | None | 1.000 | 110 | 293 | 2007 | 2017 | ||||||||
|
APC regulator of WNT signaling pathway | 0.373 | 0.962 | 1.00 |
|
group | 0.110 | None | 1.000 | 159 | 257 | 1991 | 2017 | ||||||||
|
chromosome 11 open reading frame 65 | 0.670 | 0.462 | 2.0E-14 |
|
group | 0.100 | None | 1.000 | 159 | 220 | 1996 | 2018 | ||||||||
|
neurofibromin 1 | 0.440 | 0.885 | 0.90 |
|
group | 0.100 | None | 1.000 | 139 | 215 | 1990 | 2018 | ||||||||
|
tumor protein p53 | 0.236 | 0.962 | 0.53 |
|
group | 0.170 | None | 1.000 | 365 | 201 | 1989 | 2018 | ||||||||
|
mutL homolog 1 | 0.399 | 0.808 | 3.4E-05 |
|
group | 0.150 | None | 1.000 | 298 | 189 | 1978 | 2018 | ||||||||
|
phosphatase and tensin homolog | 0.305 | 0.923 | 0.26 |
|
group | 0.160 | None | 1.000 | 148 | 183 | 1997 | 2018 | ||||||||
|
RAD50 double strand break repair protein | 0.556 | 0.808 | 3.4E-27 |
|
group | 0.100 | None | 1.000 | 31 | 164 | 1999 | 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 | ||||||||
|
checkpoint kinase 2 | 0.460 | 0.808 | 1.2E-24 |
|
group | 0.100 | None | 1.000 | 106 | 133 | 1999 | 2019 | ||||||||
|
PMS1 homolog 2, mismatch repair system component | 0.484 | 0.808 | 4.5E-27 |
|
group | 0.110 | None | 1.000 | 112 | 124 | 1995 | 2018 | ||||||||
|
BRCA1 associated RING domain 1 | 0.597 | 0.538 | 1.4E-24 |
|
group | 0.100 | None | 1.000 | 28 | 105 | 2003 | 2017 | ||||||||
|
RB transcriptional corepressor 1 | 0.444 | 0.885 | 1.00 |
|
group | 0.100 | None | 1.000 | 71 | 103 | 1989 | 2018 | ||||||||
|
nibrin | 0.467 | 0.808 | 2.2E-16 |
|
group | 0.100 | None | 1.000 | 36 | 92 | 1998 | 2017 | ||||||||
|
dicer 1, ribonuclease III | 0.446 | 0.846 | 1.00 |
|
group | 0.120 | None | 1.000 | 12 | 90 | 2009 | 2016 | ||||||||
|
cadherin 1 | 0.401 | 0.808 | 0.15 |
|
group | 0.130 | None | 1.000 | 66 | 87 | 1994 | 2019 | ||||||||
|
mutY DNA glycosylase | 0.521 | 0.769 | 1.3E-18 |
|
group | 0.100 | None | 1.000 | 123 | 83 | 2001 | 2017 | ||||||||
|
succinate dehydrogenase complex iron sulfur subunit B | 0.474 | 0.846 | 2.4E-04 |
|
group | 0.110 | None | 1.000 | 126 | 71 | 1995 | 2018 | ||||||||
|
RAD51 paralog C | 0.533 | 0.692 | 6.2E-14 |
|
group | 0.100 | None | 1.000 | 50 | 65 | 2002 | 2017 |