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. | ||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | 0.292 | 0.923 | 1.00 |
|
group | 0.100 | None | 1.000 | 14 | 1 | 2006 | 2018 | ||||||||
|
catenin beta 1 | 0.303 | 0.885 | 1.00 |
|
group | 0.400 | None | 1.000 | 22 | 3 | 1991 | 2017 | ||||||||
|
phosphatase and tensin homolog | 0.305 | 0.923 | 0.26 |
|
group | 0.400 | None | 1.000 | 14 | 1 | 2001 | 2015 | ||||||||
|
B-Raf proto-oncogene, serine/threonine kinase | 0.319 | 0.846 | 1.00 |
|
group | 0.100 | None | 1.000 | 8 | 2 | 1968 | 2013 | ||||||||
|
signal transducer and activator of transcription 3 | 0.320 | 0.923 | 1.00 |
|
group | 0.100 | None | 1.000 | 11 | 1 | 2007 | 2018 | ||||||||
|
actin beta | 0.325 | 0.923 | 0.99 |
|
group | 0.100 | None | 1.000 | 10 | 1 | 1999 | 2017 | ||||||||
|
notch receptor 1 | 0.369 | 0.885 | 1.00 |
|
group | 0.100 | None | 1.000 | 19 | 3 | 1999 | 2019 | ||||||||
|
HRas proto-oncogene, GTPase | 0.378 | 0.885 | 8.0E-02 |
|
group | 0.100 | None | 1.000 | 10 | 1 | 2002 | 2017 | ||||||||
|
fibroblast growth factor receptor 2 | 0.380 | 0.808 | 1.00 |
|
group | 0.400 | None | 1.000 | 26 | 2 | 1985 | 2017 | ||||||||
|
protein tyrosine phosphatase non-receptor type 11 | 0.385 | 0.923 | 1.00 |
|
group | 0.100 | None | 1.000 | 20 | 4 | 1968 | 2016 | ||||||||
|
gap junction protein alpha 1 | 0.393 | 0.885 | 0.16 |
|
group | 0.100 | None | 1.000 | 12 | 1 | 2003 | 2017 | ||||||||
|
SRY-box transcription factor 2 | 0.405 | 0.808 | 0.71 |
|
group | 0.100 | None | 1.000 | 8 | 1 | 2005 | 2016 | ||||||||
|
von Willebrand factor | 0.408 | 0.885 | 3.2E-25 |
|
group | 0.100 | None | 1.000 | 13 | 1 | 1987 | 2015 | ||||||||
|
lysine methyltransferase 2A | 0.410 | 0.885 | 1.00 |
|
group | 0.100 | None | 1.000 | 22 | 5 | 1989 | 2017 | ||||||||
|
fibrillin 1 | 0.417 | 0.846 | 1.00 |
|
group | 0.100 | None | 1.000 | 29 | 2 | 1986 | 2016 | ||||||||
|
Raf-1 proto-oncogene, serine/threonine kinase | 0.418 | 0.885 | 0.85 |
|
group | 0.100 | None | 1.000 | 15 | 2 | 2006 | 2016 | ||||||||
|
GNAS complex locus | 0.420 | 0.885 | 0.68 |
|
group | 0.100 | None | 1.000 | 10 | 1 | 1993 | 2017 | ||||||||
|
neurotrophic receptor tyrosine kinase 1 | 0.422 | 0.808 | 2.0E-06 |
|
group | 0.100 | None | 1.000 | 3 | 2 | 2012 | 2017 | ||||||||
|
CREB binding protein | 0.428 | 0.808 | 1.00 |
|
group | 0.100 | None | 1.000 | 18 | 3 | 1963 | 2017 | ||||||||
|
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 | 0.434 | 0.846 | 1.00 |
|
group | 0.100 | None | 1.000 | 5 | 1 | 2012 | 2014 | ||||||||
|
collagen type XI alpha 2 chain | 0.435 | 0.846 | 0.70 |
|
group | 0.100 | None | 1.000 | 17 | 1 | 1975 | 2012 | ||||||||
|
neurofibromin 1 | 0.440 | 0.885 | 0.90 |
|
group | 0.100 | None | 1.000 | 34 | 2 | 1967 | 2017 | ||||||||
|
chromodomain helicase DNA binding protein 7 | 0.441 | 0.846 | 1.00 |
|
group | 0.100 | None | 1.000 | 21 | 10 | 1999 | 2016 | ||||||||
|
collagen type II alpha 1 chain | 0.444 | 0.846 | 1.00 |
|
group | 0.100 | None | 1.000 | 13 | 2 | 1990 | 2016 | ||||||||
|
DNA methyltransferase 3 alpha | 0.445 | 0.846 | 7.4E-39 |
|
group | 0.100 | None | 1.000 | 36 | 1 | 1989 | 2018 |