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. | ||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
BRCA1 DNA repair associated | 0.367 | 0.923 | 9.2E-29 |
|
disease | 0.800 | strong | 0.986 | 800 | 874 | 1990 | 2020 | ||||||||
|
BRCA2 DNA repair associated | 0.379 | 0.846 | 2.4E-25 |
|
disease | 0.800 | strong | 0.993 | 714 | 1160 | 1990 | 2020 | ||||||||
|
CF transmembrane conductance regulator | 0.424 | 0.885 | 2.2E-58 |
|
disease | 1.000 | None | 0.979 | 532 | 560 | 1989 | 2020 | ||||||||
|
low density lipoprotein receptor | 0.449 | 0.885 | 9.8E-24 |
|
disease | 0.900 | strong | 0.982 | 456 | 1279 | 1964 | 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 | ||||||||
|
von Hippel-Lindau tumor suppressor | 0.443 | 0.846 | 8.0E-02 |
|
disease | 1.000 | None | 0.974 | 214 | 162 | 1976 | 2020 | ||||||||
|
mutL homolog 1 | 0.399 | 0.808 | 3.4E-05 |
|
disease | 0.900 | None | 0.977 | 199 | 497 | 1975 | 2020 | ||||||||
|
myosin binding protein C3 | 0.593 | 0.385 | 8.0E-11 |
|
disease | 0.700 | strong | 0.990 | 191 | 230 | 1986 | 2020 | ||||||||
|
neurofibromin 1 | 0.440 | 0.885 | 0.90 |
|
disease | 1.000 | None | 0.976 | 185 | 764 | 1977 | 2020 | ||||||||
|
low density lipoprotein receptor | 0.449 | 0.885 | 9.8E-24 |
|
disease | 0.200 | None | 0.992 | 182 | 54 | 1975 | 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 | ||||||||
|
potassium voltage-gated channel subfamily Q member 1 | 0.485 | 0.769 | 4.5E-08 |
|
disease | 0.700 | None | 0.980 | 152 | 102 | 1993 | 2020 | ||||||||
|
transthyretin | 0.423 | 0.885 | 0.52 |
|
disease | 1.000 | None | 0.992 | 142 | 43 | 1983 | 2020 | ||||||||
|
mutS homolog 6 | 0.462 | 0.731 | 3.7E-05 |
|
disease | 0.800 | definitive | 0.987 | 140 | 238 | 1988 | 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 | ||||||||
|
phosphatase and tensin homolog | 0.305 | 0.923 | 0.26 |
|
disease | 0.800 | definitive | 1.000 | 125 | 191 | 1972 | 2020 | ||||||||
|
potassium voltage-gated channel subfamily H member 2 | 0.522 | 0.731 | 1.00 |
|
disease | 0.500 | None | 0.990 | 120 | 114 | 1995 | 2020 | ||||||||
|
NPC intracellular cholesterol transporter 1 | 0.518 | 0.692 | 6.5E-06 |
|
disease | 1.000 | strong | 0.994 | 118 | 139 | 1988 | 2020 |