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. | ||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
dyskerin pseudouridine synthase 1 | 0.547 | 0.769 | 1.00 |
|
group | 0.100 | None | 0 | 0 | |||||||||||
|
NLR family pyrin domain containing 1 | 0.502 | 0.769 | 5.0E-19 |
|
group | 0.100 | None | 0 | 0 | |||||||||||
|
R-spondin 1 | 0.593 | 0.731 | 1.4E-06 |
|
group | 0.100 | None | 0 | 0 | |||||||||||
|
CYP3A7-CYP3A51P readthrough | 0.821 | 0.154 |
|
group | 0.010 | None | 1.000 | 1 | 0 | 1979 | 1979 | |||||||||
|
cytochrome P450 family 3 subfamily A member 7 | 0.670 | 0.500 | 6.1E-14 |
|
group | 0.010 | None | 1.000 | 1 | 0 | 1979 | 1979 | ||||||||
|
cytochrome P450 family 3 subfamily A member 5 | 0.511 | 0.846 | 6.3E-17 |
|
group | 0.010 | None | 1.000 | 1 | 0 | 1979 | 1979 | ||||||||
|
arylsulfatase A | 0.448 | 0.923 | 1.1E-11 |
|
group | 0.010 | None | 1.000 | 1 | 0 | 1981 | 1981 | ||||||||
|
endogenous retrovirus group W member 4 | 0.686 | 0.615 |
|
group | 0.010 | None | 1.000 | 1 | 0 | 1986 | 1986 | |||||||||
|
glucuronidase beta | 0.530 | 0.846 | 4.0E-08 |
|
group | 0.010 | None | 1.000 | 1 | 0 | 1987 | 1987 | ||||||||
|
apolipoprotein B | 0.453 | 0.808 | 1.9E-16 |
|
group | 0.010 | None | 1.000 | 1 | 0 | 1988 | 1988 | ||||||||
|
low density lipoprotein receptor | 0.449 | 0.885 | 9.8E-24 |
|
group | 0.010 | None | 1.000 | 1 | 0 | 1988 | 1988 | ||||||||
|
PKHD1 ciliary IPT domain containing fibrocystin/polyductin | 0.576 | 0.654 | 1.2E-47 |
|
group | 0.010 | None | 1.000 | 1 | 0 | 1988 | 1988 | ||||||||
|
major histocompatibility complex, class I, B | 0.379 | 0.885 | 3.9E-05 |
|
group | 0.020 | None | 1.000 | 2 | 0 | 1989 | 1989 | ||||||||
|
nerve growth factor receptor | 0.477 | 0.846 | 9.8E-02 |
|
group | 0.010 | None | 1.000 | 1 | 0 | 1989 | 1989 | ||||||||
|
spectrin alpha, erythrocytic 1 | 0.638 | 0.538 | 2.6E-18 |
|
group | 0.010 | None | 1.000 | 1 | 0 | 1989 | 1989 | ||||||||
|
alkB homolog 1, histone H2A dioxygenase | 0.644 | 0.538 | 4.9E-06 |
|
group | 0.010 | None | 1.000 | 1 | 0 | 1989 | 1989 | ||||||||
|
LDL receptor related protein associated protein 1 | 0.579 | 0.731 | 4.5E-07 |
|
group | 0.020 | None | 0.500 | 2 | 0 | 1984 | 1990 | ||||||||
|
gap junction protein beta 1 | 0.514 | 0.731 | 0.85 |
|
group | 0.010 | None | 1.000 | 1 | 0 | 1990 | 1990 | ||||||||
|
cytochrome c oxidase III | 0.546 | 0.808 |
|
group | 0.010 | None | 1.000 | 1 | 0 | 1990 | 1990 | |||||||||
|
S13 erythroblastosis (avian) oncogene homolog | 0.606 | 0.615 |
|
group | 0.010 | None | 1.000 | 1 | 0 | 1990 | 1990 | |||||||||
|
transthyretin | 0.423 | 0.885 | 0.52 |
|
group | 0.010 | None | 1.000 | 1 | 0 | 1990 | 1990 | ||||||||
|
histatin 3 | 0.686 | 0.500 | 4.1E-05 |
|
group | 0.020 | None | 1.000 | 2 | 0 | 1990 | 1991 | ||||||||
|
sulfotransferase family 2A member 1 | 0.545 | 0.769 | 1.3E-15 |
|
group | 0.020 | None | 1.000 | 2 | 0 | 1990 | 1991 | ||||||||
|
heparan sulfate proteoglycan 2 | 0.438 | 0.885 | 1.0E-19 |
|
group | 0.010 | None | 1.000 | 1 | 0 | 1991 | 1991 | ||||||||
|
matrix metallopeptidase 10 | 0.553 | 0.808 | 5.9E-15 |
|
group | 0.010 | None | 1.000 | 1 | 0 | 1991 | 1991 |