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. | ||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
ALK receptor tyrosine kinase | 0.396 | 0.846 | 3.2E-06 |
|
phenotype | 0.100 | None | 1.000 | 11 | 14 | 1990 | 2016 | ||||||||
|
cancer susceptibility 11 | 0.641 | 0.577 |
|
phenotype | 0.100 | None | 1.000 | 1 | 3 | 2016 | 2016 | |||||||||
|
protein tyrosine phosphatase non-receptor type 11 | 0.385 | 0.923 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 1 | 4 | 2016 | 2016 | ||||||||
|
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | 0.292 | 0.923 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 1 | 3 | 2016 | 2016 | ||||||||
|
MYCN proto-oncogene, bHLH transcription factor | 0.454 | 0.808 | 0.89 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2016 | 2016 | ||||||||
|
MYC proto-oncogene, bHLH transcription factor | 0.344 | 0.923 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 1 | 3 | 2016 | 2016 | ||||||||
|
kinesin family member 1B | 0.516 | 0.808 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 1 | 3 | 2008 | 2008 | ||||||||
|
fibroblast growth factor receptor 1 | 0.362 | 0.885 | 1.00 |
|
phenotype | 0.100 | None | 1.000 | 1 | 3 | 2016 | 2016 | ||||||||
|
MYCN opposite strand | 0.700 | 0.462 |
|
phenotype | 0.100 | None | 1.000 | 1 | 1 | 2016 | 2016 | |||||||||
|
tumor protein p53 | 0.236 | 0.962 | 0.53 |
|
phenotype | 0.100 | None | 1.000 | 1 | 2 | 2016 | 2016 | ||||||||
|
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 | 0.450 | 0.885 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 |