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. | ||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
ATPase copper transporting beta | 0.529 | 0.654 | 4.8E-30 |
|
disease | 1.000 | definitive | 0.980 | 81 | 179 | 1983 | 2020 | ||||||||
|
coagulation factor VIII | 0.542 | 0.769 | 1.00 |
|
disease | 1.000 | definitive | 0.983 | 80 | 198 | 1977 | 2020 | ||||||||
|
CF transmembrane conductance regulator | 0.424 | 0.885 | 2.2E-58 |
|
disease | 1.000 | None | 0.979 | 73 | 122 | 1989 | 2020 | ||||||||
|
androgen receptor | 0.351 | 0.846 | 0.99 |
|
disease | 1.000 | None | 0.966 | 72 | 39 | 1970 | 2019 | ||||||||
|
transthyretin | 0.423 | 0.885 | 0.52 |
|
disease | 1.000 | None | 0.992 | 72 | 43 | 1983 | 2020 | ||||||||
|
gap junction protein beta 1 | 0.514 | 0.731 | 0.85 |
|
disease | 1.000 | None | 1.000 | 58 | 72 | 1993 | 2019 | ||||||||
|
lipoprotein lipase | 0.474 | 0.808 | 1.3E-09 |
|
disease | 1.000 | strong | 0.993 | 55 | 39 | 1977 | 2019 | ||||||||
|
glucosylceramidase beta | 0.500 | 0.808 | 1.4E-06 |
|
disease | 1.000 | None | 0.984 | 48 | 95 | 1983 | 2020 | ||||||||
|
superoxide dismutase 1 | 0.379 | 0.962 | 0.18 |
|
disease | 1.000 | strong | 0.980 | 46 | 42 | 1976 | 2019 | ||||||||
|
fibrillin 1 | 0.417 | 0.846 | 1.00 |
|
disease | 1.000 | definitive | 0.986 | 44 | 40 | 1973 | 2020 | ||||||||
|
galactosidase alpha | 0.537 | 0.769 | 1.00 |
|
disease | 1.000 | definitive | 0.992 | 43 | 117 | 1967 | 2020 | ||||||||
|
spastin | 0.579 | 0.577 | 1.00 |
|
disease | 1.000 | None | 1.000 | 43 | 26 | 1991 | 2019 | ||||||||
|
hydroxymethylbilane synthase | 0.559 | 0.731 | 0.95 |
|
disease | 1.000 | strong | 0.983 | 42 | 23 | 1974 | 2020 | ||||||||
|
arylsulfatase A | 0.448 | 0.923 | 1.1E-11 |
|
disease | 1.000 | None | 0.978 | 42 | 56 | 1975 | 2019 | ||||||||
|
potassium voltage-gated channel subfamily Q member 1 | 0.485 | 0.769 | 4.5E-08 |
|
disease | 1.000 | None | 0.990 | 41 | 196 | 1996 | 2019 | ||||||||
|
glucosidase alpha, acid | 0.631 | 0.577 | 2.8E-18 |
|
disease | 1.000 | definitive | 0.994 | 40 | 77 | 1965 | 2019 | ||||||||
|
myelin protein zero | 0.503 | 0.846 | 0.27 |
|
disease | 1.000 | None | 1.000 | 39 | 30 | 1992 | 2019 | ||||||||
|
coagulation factor IX | 0.465 | 0.885 | 1.00 |
|
disease | 1.000 | definitive | 0.979 | 38 | 53 | 1976 | 2020 | ||||||||
|
serpin family C member 1 | 0.507 | 0.769 | 1.00 |
|
disease | 1.000 | strong | 0.987 | 36 | 35 | 1984 | 2019 | ||||||||
|
iduronate 2-sulfatase | 0.559 | 0.769 | 0.95 |
|
disease | 1.000 | definitive | 0.994 | 34 | 21 | 1991 | 2019 | ||||||||
|
polycystin 1, transient receptor potential channel interacting | 0.493 | 0.769 | 1.00 |
|
disease | 1.000 | definitive | 0.986 | 34 | 54 | 1992 | 2018 | ||||||||
|
neurofibromin 1 | 0.440 | 0.885 | 0.90 |
|
disease | 1.000 | None | 0.976 | 33 | 72 | 1977 | 2020 | ||||||||
|
ornithine carbamoyltransferase | 0.565 | 0.846 | 0.87 |
|
disease | 1.000 | definitive | 1.000 | 30 | 107 | 1976 | 2018 | ||||||||
|
parkin RBR E3 ubiquitin protein ligase | 0.431 | 0.846 | 6.9E-07 |
|
disease | 1.000 | None | 0.994 | 30 | 22 | 1998 | 2019 | ||||||||
|
proteolipid protein 1 | 0.543 | 0.769 | 0.93 |
|
disease | 1.000 | definitive | 0.979 | 30 | 14 | 1962 | 2019 |