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. | ||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
MYCN opposite strand | 0.700 | 0.462 |
|
disease | 0.100 | None | 1.000 | 1 | 1 | 2016 | 2016 | |||||||||
|
protein phosphatase 2 scaffold subunit Aalpha | 0.588 | 0.577 | 0.98 |
|
disease | 0.100 | None | 1.000 | 1 | 3 | 2016 | 2016 | ||||||||
|
F-box and WD repeat domain containing 7 | 0.465 | 0.808 | 1.00 |
|
disease | 0.100 | None | 1.000 | 1 | 7 | 2016 | 2016 | ||||||||
|
mitogen-activated protein kinase kinase 1 | 0.439 | 0.846 | 0.90 |
|
disease | 0.100 | None | 1.000 | 1 | 2 | 2016 | 2016 | ||||||||
|
phosphatase and tensin homolog | 0.305 | 0.923 | 0.26 |
|
disease | 0.100 | None | 1.000 | 1 | 2 | 2016 | 2016 | ||||||||
|
Rac family small GTPase 1 | 0.429 | 0.962 | 0.76 |
|
disease | 0.100 | None | 1.000 | 1 | 2 | 2016 | 2016 | ||||||||
|
Ras homolog, mTORC1 binding | 0.631 | 0.577 | 0.98 |
|
disease | 0.100 | None | 1.000 | 1 | 2 | 2016 | 2016 | ||||||||
|
SOS Ras/Rac guanine nucleotide exchange factor 1 | 0.485 | 0.808 | 1.00 |
|
disease | 0.100 | None | 1.000 | 1 | 1 | 2016 | 2016 | ||||||||
|
B-Raf proto-oncogene, serine/threonine kinase | 0.319 | 0.846 | 1.00 |
|
disease | 0.100 | None | 1.000 | 1 | 3 | 2016 | 2016 | ||||||||
|
tumor protein p53 | 0.236 | 0.962 | 0.53 |
|
disease | 0.100 | None | 1.000 | 1 | 43 | 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 | ||||||||
|
exportin 1 | 0.504 | 0.692 | 1.00 |
|
disease | 0.100 | None | 1.000 | 1 | 2 | 2016 | 2016 | ||||||||
|
DNA polymerase epsilon, catalytic subunit | 0.526 | 0.731 | 8.0E-27 |
|
disease | 0.100 | None | 1.000 | 1 | 3 | 2016 | 2016 | ||||||||
|
phosphoinositide-3-kinase regulatory subunit 1 | 0.477 | 0.885 | 1.00 |
|
disease | 0.100 | None | 1.000 | 1 | 1 | 2016 | 2016 | ||||||||
|
catenin beta 1 | 0.303 | 0.885 | 1.00 |
|
disease | 0.100 | None | 1.000 | 1 | 12 | 2016 | 2016 | ||||||||
|
erb-b2 receptor tyrosine kinase 2 | 0.328 | 0.923 | 6.0E-03 |
|
disease | 0.100 | None | 1.000 | 1 | 5 | 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 | ||||||||
|
fibroblast growth factor receptor 2 | 0.380 | 0.808 | 1.00 |
|
disease | 0.100 | None | 1.000 | 1 | 8 | 2016 | 2016 | ||||||||
|
mechanistic target of rapamycin kinase | 0.343 | 0.885 | 1.00 |
|
disease | 0.100 | None | 1.000 | 1 | 4 | 2016 | 2016 | ||||||||
|
HRas proto-oncogene, GTPase | 0.378 | 0.885 | 8.0E-02 |
|
disease | 0.100 | None | 1.000 | 1 | 6 | 2016 | 2016 | ||||||||
|
KRAS proto-oncogene, GTPase | 0.320 | 0.923 | 7.9E-04 |
|
disease | 0.100 | None | 1.000 | 1 | 1 | 2016 | 2016 | ||||||||
|
MYCN proto-oncogene, bHLH transcription factor | 0.454 | 0.808 | 0.89 |
|
disease | 0.100 | None | 1.000 | 1 | 1 | 2016 | 2016 | ||||||||
|
nuclear factor, erythroid 2 like 2 | 0.357 | 0.885 | 3.6E-03 |
|
disease | 0.100 | None | 1.000 | 1 | 2 | 2016 | 2016 | ||||||||
|
NRAS proto-oncogene, GTPase | 0.390 | 0.808 | 0.49 |
|
disease | 0.100 | None | 1.000 | 1 | 4 | 2016 | 2016 | ||||||||
|
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | 0.292 | 0.923 | 1.00 |
|
disease | 0.100 | None | 1.000 | 1 | 31 | 2016 | 2016 |