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 |
|
disease | 0.100 | None | 0 | 1 | |||||||||||
|
KRAS proto-oncogene, GTPase | 0.320 | 0.923 | 7.9E-04 |
|
disease | 0.420 | None | 1.000 | 1 | 1 | 2001 | 2019 | ||||||||
|
tumor protein p53 | 0.236 | 0.962 | 0.53 |
|
disease | 0.200 | None | 0.979 | 1 | 48 | 1993 | 2018 | ||||||||
|
erb-b2 receptor tyrosine kinase 2 | 0.328 | 0.923 | 6.0E-03 |
|
disease | 0.200 | None | 1.000 | 1 | 6 | 1990 | 2018 | ||||||||
|
fibroblast growth factor receptor 3 | 0.391 | 0.846 | 1.6E-05 |
|
disease | 0.170 | None | 0.875 | 1 | 3 | 2009 | 2019 | ||||||||
|
B-Raf proto-oncogene, serine/threonine kinase | 0.319 | 0.846 | 1.00 |
|
disease | 0.140 | None | 0.800 | 1 | 6 | 2009 | 2019 | ||||||||
|
cyclin dependent kinase inhibitor 2A | 0.300 | 0.885 | 0.39 |
|
disease | 0.120 | None | 0.667 | 1 | 4 | 2000 | 2016 | ||||||||
|
catenin beta 1 | 0.303 | 0.885 | 1.00 |
|
disease | 0.120 | None | 0.667 | 1 | 8 | 2012 | 2016 | ||||||||
|
fibroblast growth factor receptor 1 | 0.362 | 0.885 | 1.00 |
|
disease | 0.110 | None | 1.000 | 1 | 2 | 2016 | 2017 | ||||||||
|
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | 0.292 | 0.923 | 1.00 |
|
disease | 0.110 | None | 1.000 | 1 | 20 | 2012 | 2016 | ||||||||
|
mitogen-activated protein kinase 1 | 0.330 | 0.923 | 1.00 |
|
disease | 0.110 | None | 1.000 | 1 | 1 | 2016 | 2017 | ||||||||
|
HRas proto-oncogene, GTPase | 0.378 | 0.885 | 8.0E-02 |
|
disease | 0.110 | None | 1.000 | 1 | 7 | 1998 | 2016 | ||||||||
|
mechanistic target of rapamycin kinase | 0.343 | 0.885 | 1.00 |
|
disease | 0.110 | None | 1.000 | 1 | 2 | 2012 | 2014 | ||||||||
|
retinoid X receptor alpha | 0.543 | 0.769 | 1.00 |
|
disease | 0.100 | None | 1.000 | 1 | 1 | 2016 | 2016 | ||||||||
|
Ras homolog, mTORC1 binding | 0.631 | 0.577 | 0.98 |
|
disease | 0.100 | None | 1.000 | 1 | 2 | 2016 | 2016 | ||||||||
|
mitogen-activated protein kinase kinase 1 | 0.439 | 0.846 | 0.90 |
|
disease | 0.100 | None | 1.000 | 1 | 2 | 2016 | 2016 | ||||||||
|
U2 small nuclear RNA auxiliary factor 1 | 0.604 | 0.577 | 0.99 |
|
disease | 0.100 | None | 1.000 | 1 | 1 | 2016 | 2016 | ||||||||
|
F-box and WD repeat domain containing 7 | 0.465 | 0.808 | 1.00 |
|
disease | 0.100 | None | 1.000 | 1 | 5 | 2016 | 2016 | ||||||||
|
NRAS proto-oncogene, GTPase | 0.390 | 0.808 | 0.49 |
|
disease | 0.100 | None | 1.000 | 1 | 4 | 2016 | 2016 | ||||||||
|
nuclear factor, erythroid 2 like 2 | 0.357 | 0.885 | 3.6E-03 |
|
disease | 0.100 | None | 1.000 | 1 | 5 | 2016 | 2016 | ||||||||
|
isocitrate dehydrogenase (NADP(+)) 1 | 0.424 | 0.808 | 2.6E-12 |
|
disease | 0.100 | None | 1.000 | 1 | 2 | 2016 | 2016 | ||||||||
|
splicing factor 3b subunit 1 | 0.511 | 0.731 | 1.00 |
|
disease | 0.100 | None | 1.000 | 1 | 2 | 2016 | 2016 | ||||||||
|
erb-b2 receptor tyrosine kinase 3 | 0.448 | 0.808 | 1.7E-15 |
|
disease | 0.100 | None | 1.000 | 1 | 3 | 2016 | 2016 | ||||||||
|
E1A binding protein p300 | 0.459 | 0.846 | 1.00 |
|
disease | 0.100 | None | 1.000 | 1 | 1 | 2016 | 2016 | ||||||||
|
CREB binding protein | 0.428 | 0.808 | 1.00 |
|
disease | 0.100 | None | 1.000 | 1 | 2 | 2016 | 2016 |