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. | ||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
splicing factor 3b subunit 2 | 0.780 | 0.308 | 1.00 |
|
disease | 0.100 | None | 1.000 | 1 | 1 | 2016 | 2016 | ||||||||
|
transglutaminase 6 | 0.644 | 0.423 | 1.1E-24 |
|
disease | 0.110 | None | 1.000 | 0 | 1 | 2015 | 2015 | ||||||||
|
DEAD-box helicase 41 | 0.636 | 0.538 | 5.6E-08 |
|
disease | 0.190 | None | 1.000 | 0 | 1 | 2015 | 2019 | ||||||||
|
U2 small nuclear RNA auxiliary factor 1 | 0.604 | 0.577 | 0.99 |
|
disease | 0.470 | None | 1.000 | 4 | 2 | 2011 | 2019 | ||||||||
|
fms related receptor tyrosine kinase 3 | 0.462 | 0.654 | 0.61 |
|
disease | 1.000 | None | 0.985 | 34 | 28 | 1992 | 2020 | ||||||||
|
GATA binding protein 2 | 0.496 | 0.654 | 0.98 |
|
disease | 0.800 | None | 0.974 | 2 | 2 | 1994 | 2020 | ||||||||
|
colony stimulating factor 3 receptor | 0.550 | 0.692 | 1.5E-10 |
|
disease | 0.500 | None | 0.980 | 1 | 1 | 1995 | 2019 | ||||||||
|
TEK receptor tyrosine kinase | 0.462 | 0.692 | 1.00 |
|
disease | 0.140 | None | 1.000 | 1 | 1 | 2002 | 2009 | ||||||||
|
CCAAT enhancer binding protein alpha | 0.496 | 0.692 | 0.55 |
|
disease | 1.000 | definitive | 0.985 | 0 | 14 | 1992 | 2020 | ||||||||
|
splicing factor 3b subunit 1 | 0.511 | 0.731 | 1.00 |
|
disease | 0.500 | None | 1.000 | 2 | 6 | 2000 | 2020 | ||||||||
|
DnaJ heat shock protein family (Hsp40) member C21 | 0.606 | 0.731 | 2.1E-07 |
|
disease | 0.100 | None | 0 | 1 | |||||||||||
|
ETS variant transcription factor 6 | 0.477 | 0.731 | 0.97 |
|
disease | 0.800 | strong | 0.981 | 0 | 2 | 1995 | 2019 | ||||||||
|
Janus kinase 1 | 0.474 | 0.769 | 1.00 |
|
disease | 0.430 | None | 1.000 | 2 | 1 | 2008 | 2018 | ||||||||
|
nuclear receptor binding SET domain protein 1 | 0.505 | 0.769 | 1.00 |
|
disease | 0.700 | strong | 1.000 | 0 | 4 | 2002 | 2019 | ||||||||
|
isocitrate dehydrogenase (NADP(+)) 2 | 0.434 | 0.808 | 0.88 |
|
disease | 0.700 | None | 0.961 | 14 | 5 | 2010 | 2019 | ||||||||
|
NRAS proto-oncogene, GTPase | 0.390 | 0.808 | 0.49 |
|
disease | 0.700 | None | 0.987 | 9 | 6 | 1984 | 2019 | ||||||||
|
isocitrate dehydrogenase (NADP(+)) 1 | 0.424 | 0.808 | 2.6E-12 |
|
disease | 0.700 | None | 0.969 | 8 | 2 | 2009 | 2020 | ||||||||
|
WT1 transcription factor | 0.422 | 0.808 | 1.00 |
|
disease | 0.700 | None | 0.959 | 6 | 1 | 1994 | 2020 | ||||||||
|
RUNX family transcription factor 1 | 0.425 | 0.808 | 0.65 |
|
disease | 0.800 | strong | 0.985 | 5 | 3 | 1991 | 2020 | ||||||||
|
KIT proto-oncogene, receptor tyrosine kinase | 0.366 | 0.808 | 0.98 |
|
disease | 0.800 | moderate | 0.955 | 3 | 3 | 1989 | 2019 | ||||||||
|
DNA methyltransferase 3 alpha | 0.445 | 0.846 | 7.4E-39 |
|
disease | 0.800 | limited | 0.955 | 10 | 4 | 2009 | 2019 | ||||||||
|
nucleophosmin 1 | 0.464 | 0.846 | 1.00 |
|
disease | 0.700 | None | 0.983 | 1 | 5 | 1996 | 2020 | ||||||||
|
Janus kinase 2 | 0.385 | 0.885 | 0.65 |
|
disease | 0.800 | None | 0.945 | 11 | 2 | 2005 | 2019 | ||||||||
|
HRas proto-oncogene, GTPase | 0.378 | 0.885 | 8.0E-02 |
|
disease | 0.500 | None | 0.833 | 1 | 8 | 1987 | 2016 | ||||||||
|
KRAS proto-oncogene, GTPase | 0.320 | 0.923 | 7.9E-04 |
|
disease | 0.700 | None | 0.939 | 9 | 7 | 1987 | 2020 |