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. | ||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
protein tyrosine phosphatase non-receptor type 11 | 0.385 | 0.923 | 1.00 |
|
disease | 0.100 | None | 1.000 | 6 | 4 | 2001 | 2018 | ||||||||
|
KRAS proto-oncogene, GTPase | 0.320 | 0.923 | 7.9E-04 |
|
disease | 0.100 | None | 1.000 | 3 | 2 | 2006 | 2011 | ||||||||
|
AT-rich interaction domain 1B | 0.503 | 0.846 | 1.00 |
|
disease | 0.100 | None | 1.000 | 2 | 1 | 2012 | 2015 | ||||||||
|
Raf-1 proto-oncogene, serine/threonine kinase | 0.418 | 0.885 | 0.85 |
|
disease | 0.100 | None | 1.000 | 2 | 1 | 2007 | 2007 | ||||||||
|
bromodomain PHD finger transcription factor | 0.560 | 0.769 | 1.00 |
|
disease | 0.100 | None | 1.000 | 1 | 3 | 2017 | 2017 | ||||||||
|
SON DNA binding protein | 0.565 | 0.769 | 1.00 |
|
disease | 0.100 | None | 1.000 | 1 | 5 | 2016 | 2016 | ||||||||
|
carnitine O-acetyltransferase | 0.656 | 0.577 | 9.5E-12 |
|
disease | 0.100 | None | 1.000 | 1 | 2 | 2020 | 2020 | ||||||||
|
actin like 6B | 0.656 | 0.462 | 2.8E-04 |
|
disease | 0.100 | None | 1.000 | 1 | 1 | 2019 | 2019 | ||||||||
|
malate dehydrogenase 2 | 0.595 | 0.731 | 6.7E-03 |
|
disease | 0.100 | None | 1.000 | 1 | 2 | 2017 | 2017 | ||||||||
|
glucosidase alpha, acid | 0.631 | 0.577 | 2.8E-18 |
|
disease | 0.100 | None | 1.000 | 1 | 1 | 2015 | 2015 | ||||||||
|
transport and golgi organization 2 homolog | 0.666 | 0.615 | 1.5E-04 |
|
disease | 0.100 | None | 1.000 | 1 | 1 | 2016 | 2016 | ||||||||
|
G protein subunit beta 1 | 0.617 | 0.731 | 1.00 |
|
disease | 0.100 | None | 1.000 | 1 | 3 | 2016 | 2016 | ||||||||
|
calcium/calmodulin dependent protein kinase II beta | 0.626 | 0.538 | 0.74 |
|
disease | 0.100 | None | 1.000 | 1 | 1 | 2017 | 2017 | ||||||||
|
iron-sulfur cluster assembly 1 | 0.792 | 0.231 | 0.17 |
|
disease | 0.100 | None | 1.000 | 1 | 1 | 2017 | 2017 | ||||||||
|
geminin DNA replication inhibitor | 0.554 | 0.808 | 0.11 |
|
disease | 0.100 | None | 1.000 | 1 | 1 | 2015 | 2015 | ||||||||
|
solute carrier family 6 member 3 | 0.453 | 0.885 | 1.00 |
|
disease | 0.100 | None | 1.000 | 1 | 1 | 2012 | 2012 | ||||||||
|
ATP synthase F1 subunit delta | 0.674 | 0.500 | 7.4E-02 |
|
disease | 0.100 | None | 1.000 | 1 | 1 | 2018 | 2018 | ||||||||
|
phosphomannomutase 2 | 0.535 | 0.769 | 1.4E-17 |
|
disease | 0.100 | None | 0 | 2 | |||||||||||
|
proline rich 12 | 0.716 | 0.385 | 1.00 |
|
disease | 0.100 | None | 0 | 1 | |||||||||||
|
exosome component 9 | 0.705 | 0.423 | 1.8E-11 |
|
disease | 0.100 | None | 0 | 1 | |||||||||||
|
Abelson helper integration site 1 | 0.513 | 0.846 | 1.1E-25 |
|
disease | 0.100 | None | 0 | 1 | |||||||||||
|
pleckstrin homology domain interacting protein | 0.595 | 0.769 | 1.00 |
|
disease | 0.100 | None | 0 | 1 | |||||||||||
|
cyclin dependent kinase 13 | 0.606 | 0.692 | 0.91 |
|
disease | 0.100 | None | 0 | 1 | |||||||||||
|
chromodomain helicase DNA binding protein 7 | 0.441 | 0.846 | 1.00 |
|
disease | 0.100 | None | 0 | 1 | |||||||||||
|
ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase | 0.610 | 0.808 | 3.6E-19 |
|
disease | 0.100 | None | 0 | 3 |