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 glycan anchor biosynthesis class L | 0.581 | 0.731 | 6.2E-09 |
|
disease | 0.730 | None | 1.000 | 1 | 1 | 2012 | 2019 | ||||||||
|
solute carrier family 30 member 2 | 0.821 | 0.192 | 8.1E-02 |
|
disease | 0.650 | None | 0.833 | 2 | 2 | 2006 | 2019 | ||||||||
|
ATPase H+ transporting V1 subunit B2 | 0.606 | 0.577 | 0.99 |
|
disease | 0.410 | None | 1.000 | 1 | 1 | 2015 | 2019 | ||||||||
|
potassium voltage-gated channel subfamily H member 1 | 0.542 | 0.731 | 0.55 |
|
disease | 0.400 | None | 1.000 | 1 | 6 | 2015 | 2015 | ||||||||
|
SON DNA binding protein | 0.565 | 0.769 | 1.00 |
|
phenotype | 0.710 | None | 1.000 | 4 | 0 | 2015 | 2019 | ||||||||
|
zeta chain of T cell receptor associated protein kinase 70 | 0.497 | 0.769 | 0.88 |
|
disease | 0.730 | strong | 1.000 | 5 | 3 | 1994 | 2019 | ||||||||
|
FIG4 phosphoinositide 5-phosphatase | 0.551 | 0.731 | 2.3E-34 |
|
disease | 0.980 | None | 1.000 | 1 | 2 | 2007 | 2019 | ||||||||
|
telomere maintenance 2 | 0.695 | 0.500 | 7.2E-14 |
|
disease | 0.700 | None | 1.000 | 1 | 5 | 2016 | 2017 | ||||||||
|
nucleotide binding oligomerization domain containing 2 | 0.423 | 0.923 | 2.0E-30 |
|
disease | 0.670 | None | 1.000 | 2 | 2 | 2011 | 2019 | ||||||||
|
ERCC excision repair 4, endonuclease catalytic subunit | 0.468 | 0.846 | 1.4E-12 |
|
disease | 0.720 | None | 1.000 | 1 | 1 | 1988 | 2013 | ||||||||
|
DNA polymerase eta | 0.663 | 0.462 | 3.5E-09 |
|
disease | 0.940 | definitive | 1.000 | 6 | 6 | 1999 | 2018 | ||||||||
|
ERCC excision repair 5, endonuclease | 0.499 | 0.731 | 2.7E-13 |
|
disease | 1.000 | definitive | 1.000 | 7 | 6 | 1975 | 2016 | ||||||||
|
ERCC excision repair 4, endonuclease catalytic subunit | 0.468 | 0.846 | 1.4E-12 |
|
disease | 1.000 | definitive | 1.000 | 5 | 4 | 1988 | 2019 | ||||||||
|
ERCC excision repair 3, TFIIH core complex helicase subunit | 0.504 | 0.846 | 3.4E-11 |
|
disease | 1.000 | definitive | 1.000 | 3 | 0 | 1990 | 2019 | ||||||||
|
XPA, DNA damage recognition and repair factor | 0.520 | 0.846 | 7.9E-05 |
|
disease | 1.000 | definitive | 0.968 | 5 | 3 | 1978 | 2019 | ||||||||
|
damage specific DNA binding protein 2 | 0.576 | 0.654 | 7.4E-06 |
|
disease | 1.000 | definitive | 0.850 | 1 | 1 | 1996 | 2016 | ||||||||
|
ERCC excision repair 2, TFIIH core complex helicase subunit | 0.420 | 0.846 | 7.1E-20 |
|
disease | 1.000 | definitive | 0.935 | 7 | 15 | 1977 | 2017 | ||||||||
|
XPC complex subunit, DNA damage recognition and repair factor | 0.504 | 0.808 | 3.7E-11 |
|
disease | 1.000 | definitive | 0.987 | 7 | 1 | 1989 | 2019 | ||||||||
|
cytochrome P450 family 27 subfamily A member 1 | 0.538 | 0.731 | 5.3E-19 |
|
disease | 0.800 | None | 0.985 | 5 | 6 | 1975 | 2019 | ||||||||
|
molybdenum cofactor sulfurase | 0.617 | 0.654 | 1.6E-19 |
|
disease | 0.720 | None | 1.000 | 3 | 3 | 2001 | 2018 | ||||||||
|
xanthine dehydrogenase | 0.529 | 0.846 | 2.6E-22 |
|
disease | 0.760 | strong | 1.000 | 4 | 1 | 1997 | 2013 | ||||||||
|
5'-aminolevulinate synthase 2 | 0.606 | 0.577 | 1.00 |
|
disease | 0.800 | strong | 1.000 | 10 | 12 | 1992 | 2019 | ||||||||
|
chloride voltage-gated channel 5 | 0.593 | 0.577 | 0.99 |
|
disease | 0.620 | strong | 1.000 | 1 | 1 | 1996 | 2013 | ||||||||
|
SH2 domain containing 1A | 0.525 | 0.731 | 0.39 |
|
disease | 1.000 | strong | 0.972 | 11 | 4 | 1998 | 2020 | ||||||||
|
L1 cell adhesion molecule | 0.475 | 0.769 | 1.00 |
|
disease | 1.000 | None | 0.984 | 22 | 12 | 1986 | 2020 |