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 | 136 | 318 | 1983 | 2020 | ||||||||
|
CF transmembrane conductance regulator | 0.424 | 0.885 | 2.2E-58 |
|
disease | 1.000 | None | 0.979 | 91 | 605 | 1989 | 2020 | ||||||||
|
coagulation factor VIII | 0.542 | 0.769 | 1.00 |
|
disease | 1.000 | definitive | 0.983 | 91 | 263 | 1977 | 2020 | ||||||||
|
androgen receptor | 0.351 | 0.846 | 0.99 |
|
disease | 1.000 | None | 0.966 | 74 | 98 | 1970 | 2019 | ||||||||
|
transthyretin | 0.423 | 0.885 | 0.52 |
|
disease | 1.000 | None | 0.992 | 74 | 51 | 1983 | 2020 | ||||||||
|
superoxide dismutase 1 | 0.379 | 0.962 | 0.18 |
|
disease | 1.000 | strong | 0.980 | 67 | 46 | 1976 | 2019 | ||||||||
|
glucosylceramidase beta | 0.500 | 0.808 | 1.4E-06 |
|
disease | 1.000 | None | 0.984 | 62 | 113 | 1983 | 2020 | ||||||||
|
gap junction protein beta 1 | 0.514 | 0.731 | 0.85 |
|
disease | 1.000 | None | 1.000 | 61 | 82 | 1993 | 2019 | ||||||||
|
fibrillin 1 | 0.417 | 0.846 | 1.00 |
|
disease | 1.000 | definitive | 0.986 | 60 | 991 | 1973 | 2020 | ||||||||
|
lipoprotein lipase | 0.474 | 0.808 | 1.3E-09 |
|
disease | 1.000 | strong | 0.993 | 58 | 52 | 1977 | 2019 | ||||||||
|
glucosidase alpha, acid | 0.631 | 0.577 | 2.8E-18 |
|
disease | 1.000 | definitive | 0.994 | 57 | 196 | 1965 | 2019 | ||||||||
|
galactosidase alpha | 0.537 | 0.769 | 1.00 |
|
disease | 1.000 | definitive | 0.992 | 57 | 191 | 1967 | 2020 | ||||||||
|
methyl-CpG binding protein 2 | 0.414 | 0.846 | 0.89 |
|
disease | 1.000 | definitive | 0.977 | 50 | 335 | 1975 | 2020 | ||||||||
|
coagulation factor IX | 0.465 | 0.885 | 1.00 |
|
disease | 1.000 | definitive | 0.979 | 49 | 91 | 1976 | 2020 | ||||||||
|
ATPase copper transporting alpha | 0.494 | 0.769 | 1.00 |
|
disease | 1.000 | definitive | 1.000 | 46 | 98 | 1953 | 2019 | ||||||||
|
spastin | 0.579 | 0.577 | 1.00 |
|
disease | 1.000 | None | 1.000 | 46 | 100 | 1991 | 2019 | ||||||||
|
hydroxymethylbilane synthase | 0.559 | 0.731 | 0.95 |
|
disease | 1.000 | strong | 0.983 | 45 | 55 | 1974 | 2020 | ||||||||
|
potassium voltage-gated channel subfamily Q member 1 | 0.485 | 0.769 | 4.5E-08 |
|
disease | 1.000 | None | 0.990 | 44 | 227 | 1996 | 2019 | ||||||||
|
arylsulfatase A | 0.448 | 0.923 | 1.1E-11 |
|
disease | 1.000 | None | 0.978 | 44 | 142 | 1975 | 2019 | ||||||||
|
neurofibromin 1 | 0.440 | 0.885 | 0.90 |
|
disease | 1.000 | None | 0.976 | 44 | 799 | 1977 | 2020 | ||||||||
|
collagen type III alpha 1 chain | 0.477 | 0.808 | 1.00 |
|
disease | 1.000 | definitive | 1.000 | 43 | 390 | 1980 | 2019 | ||||||||
|
polycystin 1, transient receptor potential channel interacting | 0.493 | 0.769 | 1.00 |
|
disease | 1.000 | definitive | 0.986 | 43 | 133 | 1992 | 2018 | ||||||||
|
ornithine carbamoyltransferase | 0.565 | 0.846 | 0.87 |
|
disease | 1.000 | definitive | 1.000 | 42 | 138 | 1976 | 2018 | ||||||||
|
iduronate 2-sulfatase | 0.559 | 0.769 | 0.95 |
|
disease | 1.000 | definitive | 0.994 | 41 | 68 | 1991 | 2019 | ||||||||
|
proteolipid protein 1 | 0.543 | 0.769 | 0.93 |
|
disease | 1.000 | definitive | 0.979 | 41 | 27 | 1962 | 2019 |