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 |
|
group | 0.150 | None | 1.000 | 744 | 705 | 1975 | 2019 | ||||||||
|
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 | ||||||||
|
fumarate hydratase | 0.489 | 0.846 | 8.8E-02 |
|
group | 0.150 | None | 1.000 | 70 | 63 | 1997 | 2019 | ||||||||
|
cadherin 1 | 0.401 | 0.808 | 0.15 |
|
group | 0.130 | None | 1.000 | 66 | 87 | 1994 | 2019 | ||||||||
|
folliculin | 0.537 | 0.885 | 0.79 |
|
group | 0.100 | None | 1.000 | 59 | 58 | 2000 | 2019 | ||||||||
|
myosin phosphatase Rho interacting protein | 0.556 | 0.885 | 0.98 |
|
group | 0.100 | None | 1.000 | 37 | 25 | 2000 | 2019 | ||||||||
|
bone morphogenetic protein receptor type 1A | 0.522 | 0.731 | 0.90 |
|
group | 0.110 | None | 1.000 | 18 | 60 | 1997 | 2019 | ||||||||
|
BRCA1 associated protein 1 | 0.454 | 0.731 | 0.99 |
|
group | 0.180 | None | 1.000 | 11 | 23 | 2011 | 2019 | ||||||||
|
tumor protein p53 | 0.236 | 0.962 | 0.53 |
|
group | 0.170 | None | 1.000 | 365 | 201 | 1989 | 2018 | ||||||||
|
mutS homolog 2 | 0.406 | 0.808 | 0.90 |
|
group | 0.130 | None | 1.000 | 320 | 309 | 1990 | 2018 | ||||||||
|
mutL homolog 1 | 0.399 | 0.808 | 3.4E-05 |
|
group | 0.150 | None | 1.000 | 298 | 189 | 1978 | 2018 | ||||||||
|
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 | ||||||||
|
chromosome 11 open reading frame 65 | 0.670 | 0.462 | 2.0E-14 |
|
group | 0.100 | None | 1.000 | 159 | 220 | 1996 | 2018 | ||||||||
|
phosphatase and tensin homolog | 0.305 | 0.923 | 0.26 |
|
group | 0.160 | None | 1.000 | 148 | 183 | 1997 | 2018 | ||||||||
|
neurofibromin 1 | 0.440 | 0.885 | 0.90 |
|
group | 0.100 | None | 1.000 | 139 | 215 | 1990 | 2018 | ||||||||
|
succinate dehydrogenase complex iron sulfur subunit B | 0.474 | 0.846 | 2.4E-04 |
|
group | 0.110 | None | 1.000 | 126 | 71 | 1995 | 2018 | ||||||||
|
PMS1 homolog 2, mismatch repair system component | 0.484 | 0.808 | 4.5E-27 |
|
group | 0.110 | None | 1.000 | 112 | 124 | 1995 | 2018 | ||||||||
|
ret proto-oncogene | 0.392 | 0.885 | 1.00 |
|
group | 0.200 | None | 1.000 | 92 | 13 | 1992 | 2018 | ||||||||
|
RB transcriptional corepressor 1 | 0.444 | 0.885 | 1.00 |
|
group | 0.100 | None | 1.000 | 71 | 103 | 1989 | 2018 | ||||||||
|
succinate dehydrogenase complex flavoprotein subunit A | 0.517 | 0.731 | 2.6E-10 |
|
group | 0.100 | None | 1.000 | 42 | 28 | 1995 | 2018 | ||||||||
|
serine/threonine kinase 11 | 0.435 | 0.808 | 0.99 |
|
group | 0.120 | None | 1.000 | 39 | 64 | 1992 | 2018 | ||||||||
|
succinate dehydrogenase complex subunit C | 0.517 | 0.846 | 2.0E-04 |
|
group | 0.100 | None | 1.000 | 35 | 16 | 2003 | 2018 | ||||||||
|
RAD51 paralog D | 0.674 | 0.385 | 1.1E-09 |
|
group | 0.100 | None | 1.000 | 31 | 51 | 1982 | 2018 |