| 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. | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
WRN RecQ like helicase | 0.524 | 0.808 | 2.6E-34 |
|
disease | 1.000 | definitive | 0.952 | 166 | 63 | 1993 | 2019 | ||||||||
|
BLM RecQ like helicase | 0.535 | 0.808 | 1.5E-15 |
|
disease | 0.100 | None | 1.000 | 20 | 0 | 1996 | 2019 | ||||||||
|
helicase for meiosis 1 | 0.659 | 0.615 | 4.7E-32 |
|
disease | 0.100 | None | 1.000 | 13 | 0 | 1997 | 2018 | ||||||||
|
tumor protein p53 | 0.236 | 0.962 | 0.53 |
|
disease | 0.090 | None | 0.889 | 9 | 0 | 1995 | 2019 | ||||||||
|
RecQ like helicase 4 | 0.496 | 0.808 | 3.3E-35 |
|
disease | 0.050 | None | 1.000 | 5 | 0 | 1999 | 2017 | ||||||||
|
poly(ADP-ribose) polymerase 1 | 0.389 | 0.923 | 3.3E-04 |
|
disease | 0.050 | None | 1.000 | 5 | 0 | 2003 | 2019 | ||||||||
|
flap structure-specific endonuclease 1 | 0.550 | 0.731 | 4.8E-05 |
|
disease | 0.040 | None | 1.000 | 4 | 0 | 2001 | 2017 | ||||||||
|
serpin family E member 1 | 0.359 | 0.885 | 4.4E-02 |
|
disease | 0.040 | None | 1.000 | 4 | 0 | 1994 | 1999 | ||||||||
|
RAD51 recombinase | 0.447 | 0.846 | 2.7E-02 |
|
disease | 0.040 | None | 1.000 | 4 | 0 | 2001 | 2017 | ||||||||
|
DNA polymerase beta | 0.606 | 0.654 | 3.4E-05 |
|
disease | 0.040 | None | 0.750 | 4 | 0 | 1994 | 2003 | ||||||||
|
lamin A/C | 0.384 | 0.885 | 1.00 |
|
disease | 0.040 | None | 1.000 | 4 | 0 | 2011 | 2019 | ||||||||
|
X-ray repair cross complementing 6 | 0.552 | 0.769 | 1.00 |
|
disease | 0.030 | None | 1.000 | 3 | 0 | 2001 | 2019 | ||||||||
|
insulin like growth factor binding protein 3 | 0.439 | 0.808 | 0.91 |
|
disease | 0.030 | None | 1.000 | 3 | 0 | 1991 | 1993 | ||||||||
|
protein kinase cAMP-dependent type I regulatory subunit alpha | 0.401 | 0.846 | 1.00 |
|
disease | 0.020 | None | 1.000 | 2 | 0 | 2008 | 2008 | ||||||||
|
DNA polymerase delta interacting protein 2 | 0.396 | 0.923 | 0.41 |
|
disease | 0.020 | None | 1.000 | 2 | 0 | 2006 | 2010 | ||||||||
|
mutL homolog 1 | 0.399 | 0.808 | 3.4E-05 |
|
disease | 0.020 | None | 1.000 | 2 | 0 | 2007 | 2009 | ||||||||
|
ring finger protein 19A, RBR E3 ubiquitin protein ligase | 0.397 | 0.923 | 2.5E-02 |
|
disease | 0.020 | None | 1.000 | 2 | 0 | 2006 | 2010 | ||||||||
|
MRE11 homolog, double strand break repair nuclease | 0.527 | 0.808 | 1.3E-12 |
|
disease | 0.020 | None | 1.000 | 2 | 0 | 2004 | 2004 | ||||||||
|
transforming growth factor beta 1 | 0.287 | 0.962 | 3.7E-02 |
|
disease | 0.020 | None | 1.000 | 2 | 1 | 2000 | 2016 | ||||||||
|
proliferating cell nuclear antigen | 0.382 | 0.846 | 0.98 |
|
disease | 0.020 | None | 0.500 | 2 | 0 | 1999 | 2003 | ||||||||
|
glycophorin A (MNS blood group) | 0.538 | 0.885 | 1.1E-03 |
|
disease | 0.020 | None | 1.000 | 2 | 0 | 1998 | 2000 | ||||||||
|
H2A.X variant histone | 0.484 | 0.808 | 0.18 |
|
disease | 0.020 | None | 1.000 | 2 | 0 | 2005 | 2008 | ||||||||
|
ATR serine/threonine kinase | 0.456 | 0.923 | 3.5E-09 |
|
disease | 0.020 | None | 1.000 | 2 | 0 | 2004 | 2010 | ||||||||
|
RecQ like helicase | 0.615 | 0.615 | 1.5E-20 |
|
disease | 0.020 | None | 1.000 | 2 | 0 | 2003 | 2018 | ||||||||
|
WRN helicase interacting protein 1 | 0.931 | 0.115 | 2.5E-02 |
|
disease | 0.020 | None | 1.000 | 2 | 0 | 2017 | 2019 |