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. | ||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
succinate dehydrogenase complex subunit C | 0.517 | 0.846 | 2.0E-04 |
|
group | 0.100 | None | 1.000 | 35 | 16 | 2003 | 2018 | ||||||||
|
T helper type 2 locus control region associated RNA | 0.751 | 0.385 |
|
group | 0.100 | None | 1.000 | 10 | 22 | 2000 | 2017 | |||||||||
|
BRCA1 associated protein 1 | 0.454 | 0.731 | 0.99 |
|
group | 0.180 | None | 1.000 | 11 | 23 | 2011 | 2019 | ||||||||
|
myosin phosphatase Rho interacting protein | 0.556 | 0.885 | 0.98 |
|
group | 0.100 | None | 1.000 | 37 | 25 | 2000 | 2019 | ||||||||
|
succinate dehydrogenase complex flavoprotein subunit A | 0.517 | 0.731 | 2.6E-10 |
|
group | 0.100 | None | 1.000 | 42 | 28 | 1995 | 2018 | ||||||||
|
TSC complex subunit 2 | 0.439 | 0.808 | 1.00 |
|
group | 0.110 | None | 1.000 | 30 | 29 | 1994 | 2017 | ||||||||
|
succinate dehydrogenase complex subunit D | 0.472 | 0.885 | 0.34 |
|
group | 0.100 | None | 1.000 | 72 | 31 | 1998 | 2016 | ||||||||
|
SMAD family member 4 | 0.401 | 0.808 | 1.00 |
|
group | 0.100 | None | 1.000 | 35 | 35 | 1998 | 2017 | ||||||||
|
patched 1 | 0.398 | 0.885 | 1.00 |
|
group | 0.100 | None | 1.000 | 11 | 44 | 1997 | 2014 | ||||||||
|
cyclin dependent kinase inhibitor 2A | 0.300 | 0.885 | 0.39 |
|
group | 0.110 | None | 1.000 | 135 | 49 | 1994 | 2017 | ||||||||
|
RAD51 paralog D | 0.674 | 0.385 | 1.1E-09 |
|
group | 0.100 | None | 1.000 | 31 | 51 | 1982 | 2018 | ||||||||
|
MRE11 homolog, double strand break repair nuclease | 0.527 | 0.808 | 1.3E-12 |
|
group | 0.100 | None | 1.000 | 21 | 55 | 1999 | 2017 | ||||||||
|
folliculin | 0.537 | 0.885 | 0.79 |
|
group | 0.100 | None | 1.000 | 59 | 58 | 2000 | 2019 | ||||||||
|
von Hippel-Lindau tumor suppressor | 0.443 | 0.846 | 8.0E-02 |
|
group | 0.180 | None | 1.000 | 165 | 59 | 1994 | 2017 | ||||||||
|
bone morphogenetic protein receptor type 1A | 0.522 | 0.731 | 0.90 |
|
group | 0.110 | None | 1.000 | 18 | 60 | 1997 | 2019 | ||||||||
|
fumarate hydratase | 0.489 | 0.846 | 8.8E-02 |
|
group | 0.150 | None | 1.000 | 70 | 63 | 1997 | 2019 | ||||||||
|
serine/threonine kinase 11 | 0.435 | 0.808 | 0.99 |
|
group | 0.120 | None | 1.000 | 39 | 64 | 1992 | 2018 | ||||||||
|
RAD51 paralog C | 0.533 | 0.692 | 6.2E-14 |
|
group | 0.100 | None | 1.000 | 50 | 65 | 2002 | 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 | ||||||||
|
mutY DNA glycosylase | 0.521 | 0.769 | 1.3E-18 |
|
group | 0.100 | None | 1.000 | 123 | 83 | 2001 | 2017 | ||||||||
|
cadherin 1 | 0.401 | 0.808 | 0.15 |
|
group | 0.130 | None | 1.000 | 66 | 87 | 1994 | 2019 | ||||||||
|
dicer 1, ribonuclease III | 0.446 | 0.846 | 1.00 |
|
group | 0.120 | None | 1.000 | 12 | 90 | 2009 | 2016 | ||||||||
|
nibrin | 0.467 | 0.808 | 2.2E-16 |
|
group | 0.100 | None | 1.000 | 36 | 92 | 1998 | 2017 | ||||||||
|
RB transcriptional corepressor 1 | 0.444 | 0.885 | 1.00 |
|
group | 0.100 | None | 1.000 | 71 | 103 | 1989 | 2018 | ||||||||
|
BRCA1 associated RING domain 1 | 0.597 | 0.538 | 1.4E-24 |
|
group | 0.100 | None | 1.000 | 28 | 105 | 2003 | 2017 |