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. | ||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
MEFV innate immuity regulator, pyrin | 0.440 | 0.885 | 1.0E-14 |
|
disease | 1.000 | None | 0.993 | 444 | 60 | 1993 | 2020 | ||||||||
|
coagulation factor IX | 0.465 | 0.885 | 1.00 |
|
disease | 1.000 | definitive | 0.979 | 439 | 95 | 1976 | 2020 | ||||||||
|
TSC complex subunit 2 | 0.439 | 0.808 | 1.00 |
|
disease | 1.000 | definitive | 0.980 | 410 | 39 | 1994 | 2020 | ||||||||
|
von Hippel-Lindau tumor suppressor | 0.443 | 0.846 | 8.0E-02 |
|
disease | 1.000 | None | 0.974 | 387 | 179 | 1976 | 2020 | ||||||||
|
transthyretin | 0.423 | 0.885 | 0.52 |
|
disease | 1.000 | None | 0.992 | 379 | 55 | 1983 | 2020 | ||||||||
|
sodium voltage-gated channel alpha subunit 5 | 0.513 | 0.654 | 0.91 |
|
disease | 1.000 | definitive | 0.984 | 375 | 155 | 1995 | 2020 | ||||||||
|
coagulation factor VIII | 0.542 | 0.769 | 1.00 |
|
disease | 1.000 | definitive | 0.983 | 358 | 267 | 1977 | 2020 | ||||||||
|
prion protein | 0.445 | 0.923 | 6.3E-04 |
|
disease | 1.000 | strong | 0.980 | 346 | 23 | 1988 | 2020 | ||||||||
|
Janus kinase 2 | 0.385 | 0.885 | 0.65 |
|
disease | 1.000 | None | 0.968 | 346 | 5 | 2005 | 2020 | ||||||||
|
glucosidase alpha, acid | 0.631 | 0.577 | 2.8E-18 |
|
disease | 1.000 | definitive | 0.994 | 319 | 201 | 1965 | 2019 | ||||||||
|
phosphatase and tensin homolog | 0.305 | 0.923 | 0.26 |
|
disease | 1.000 | strong | 0.975 | 315 | 6 | 1972 | 2020 | ||||||||
|
polycystin 2, transient receptor potential cation channel | 0.552 | 0.731 | 1.7E-04 |
|
disease | 1.000 | definitive | 0.984 | 312 | 18 | 1994 | 2020 | ||||||||
|
phosphatase and tensin homolog | 0.305 | 0.923 | 0.26 |
|
disease | 1.000 | None | 0.961 | 306 | 101 | 1972 | 2019 | ||||||||
|
protein tyrosine phosphatase non-receptor type 11 | 0.385 | 0.923 | 1.00 |
|
disease | 1.000 | definitive | 0.987 | 301 | 58 | 2001 | 2020 | ||||||||
|
superoxide dismutase 1 | 0.379 | 0.962 | 0.18 |
|
disease | 1.000 | strong | 0.980 | 294 | 46 | 1976 | 2019 | ||||||||
|
melanocortin 4 receptor | 0.535 | 0.692 | 9.2E-04 |
|
disease | 1.000 | None | 0.961 | 283 | 53 | 1997 | 2020 | ||||||||
|
ATP binding cassette subfamily D member 1 | 0.563 | 0.731 | 1.00 |
|
disease | 1.000 | definitive | 0.977 | 266 | 89 | 1981 | 2020 | ||||||||
|
androgen receptor | 0.351 | 0.846 | 0.99 |
|
disease | 1.000 | None | 0.966 | 265 | 105 | 1970 | 2019 | ||||||||
|
serine/threonine kinase 11 | 0.435 | 0.808 | 0.99 |
|
disease | 1.000 | definitive | 0.992 | 258 | 77 | 1997 | 2019 | ||||||||
|
MYC proto-oncogene, bHLH transcription factor | 0.344 | 0.923 | 1.00 |
|
disease | 1.000 | None | 0.977 | 257 | 4 | 1982 | 2020 | ||||||||
|
neurofibromin 2 | 0.468 | 0.885 | 1.00 |
|
disease | 1.000 | definitive | 0.987 | 239 | 47 | 1991 | 2020 | ||||||||
|
solute carrier family 26 member 4 | 0.507 | 0.885 | 9.0E-22 |
|
disease | 1.000 | definitive | 1.000 | 234 | 139 | 1996 | 2019 | ||||||||
|
arylsulfatase A | 0.448 | 0.923 | 1.1E-11 |
|
disease | 1.000 | None | 0.978 | 230 | 150 | 1975 | 2019 | ||||||||
|
Bruton tyrosine kinase | 0.464 | 0.808 | 1.00 |
|
disease | 1.000 | None | 0.964 | 221 | 68 | 1975 | 2020 | ||||||||
|
tumor protein p53 | 0.236 | 0.962 | 0.53 |
|
disease | 1.000 | None | 0.953 | 214 | 23 | 1987 | 2020 |