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. | ||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
CF transmembrane conductance regulator | 0.424 | 0.885 | 2.2E-58 |
|
disease | 1.000 | None | 0.979 | 532 | 560 | 1989 | 2020 | ||||||||
|
tumor protein p53 | 0.236 | 0.962 | 0.53 |
|
disease | 1.000 | definitive | 0.977 | 322 | 153 | 1988 | 2020 | ||||||||
|
ATPase copper transporting beta | 0.529 | 0.654 | 4.8E-30 |
|
disease | 1.000 | definitive | 0.980 | 256 | 222 | 1983 | 2020 | ||||||||
|
ATM serine/threonine kinase | 0.374 | 0.885 | 5.6E-47 |
|
disease | 1.000 | None | 0.982 | 253 | 661 | 1953 | 2020 | ||||||||
|
glucosidase alpha, acid | 0.631 | 0.577 | 2.8E-18 |
|
disease | 1.000 | definitive | 0.994 | 223 | 165 | 1965 | 2019 | ||||||||
|
von Hippel-Lindau tumor suppressor | 0.443 | 0.846 | 8.0E-02 |
|
disease | 1.000 | None | 0.974 | 214 | 162 | 1976 | 2020 | ||||||||
|
neurofibromin 1 | 0.440 | 0.885 | 0.90 |
|
disease | 1.000 | None | 0.976 | 185 | 764 | 1977 | 2020 | ||||||||
|
fibrillin 1 | 0.417 | 0.846 | 1.00 |
|
disease | 1.000 | definitive | 0.986 | 179 | 986 | 1973 | 2020 | ||||||||
|
mutS homolog 2 | 0.406 | 0.808 | 0.90 |
|
disease | 1.000 | definitive | 0.983 | 179 | 459 | 1993 | 2020 | ||||||||
|
galactosidase alpha | 0.537 | 0.769 | 1.00 |
|
disease | 1.000 | definitive | 0.992 | 162 | 135 | 1967 | 2020 | ||||||||
|
sodium voltage-gated channel alpha subunit 5 | 0.513 | 0.654 | 0.91 |
|
disease | 1.000 | definitive | 0.984 | 162 | 101 | 1995 | 2020 | ||||||||
|
protein tyrosine phosphatase non-receptor type 11 | 0.385 | 0.923 | 1.00 |
|
disease | 1.000 | definitive | 0.987 | 161 | 53 | 2001 | 2020 | ||||||||
|
solute carrier family 26 member 4 | 0.507 | 0.885 | 9.0E-22 |
|
disease | 1.000 | definitive | 1.000 | 156 | 128 | 1996 | 2019 | ||||||||
|
transthyretin | 0.423 | 0.885 | 0.52 |
|
disease | 1.000 | None | 0.992 | 142 | 43 | 1983 | 2020 | ||||||||
|
methyl-CpG binding protein 2 | 0.414 | 0.846 | 0.89 |
|
disease | 1.000 | definitive | 0.977 | 132 | 316 | 1975 | 2020 | ||||||||
|
MEFV innate immuity regulator, pyrin | 0.440 | 0.885 | 1.0E-14 |
|
disease | 1.000 | None | 0.993 | 130 | 26 | 1993 | 2020 | ||||||||
|
calpain 3 | 0.564 | 0.615 | 3.6E-19 |
|
disease | 1.000 | strong | 0.994 | 127 | 142 | 1995 | 2019 | ||||||||
|
NPC intracellular cholesterol transporter 1 | 0.518 | 0.692 | 6.5E-06 |
|
disease | 1.000 | strong | 0.994 | 118 | 139 | 1988 | 2020 | ||||||||
|
sodium voltage-gated channel alpha subunit 4 | 0.554 | 0.731 | 1.3E-02 |
|
disease | 1.000 | None | 1.000 | 116 | 27 | 1989 | 2019 | ||||||||
|
ATP binding cassette subfamily A member 4 | 0.493 | 0.769 | 5.3E-48 |
|
disease | 1.000 | None | 0.978 | 113 | 204 | 1997 | 2020 | ||||||||
|
ATP binding cassette subfamily D member 1 | 0.563 | 0.731 | 1.00 |
|
disease | 1.000 | definitive | 0.977 | 110 | 81 | 1981 | 2020 | ||||||||
|
hexosaminidase subunit alpha | 0.633 | 0.615 | 1.3E-11 |
|
disease | 1.000 | None | 1.000 | 101 | 102 | 1982 | 2019 | ||||||||
|
usherin | 0.579 | 0.692 | 1.6E-94 |
|
disease | 1.000 | None | 1.000 | 94 | 256 | 1998 | 2017 | ||||||||
|
glutaryl-CoA dehydrogenase | 0.691 | 0.385 | 4.9E-03 |
|
disease | 1.000 | definitive | 1.000 | 90 | 95 | 1988 | 2020 | ||||||||
|
collagen type I alpha 1 chain | 0.430 | 0.808 | 1.00 |
|
disease | 1.000 | None | 0.976 | 89 | 176 | 1988 | 2019 |