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. | ||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
BRCA2 DNA repair associated | 0.379 | 0.846 | 2.4E-25 |
|
disease | 0.700 | definitive | 1.000 | 397 | 2632 | 1988 | 2019 | ||||||||
|
BRCA1 DNA repair associated | 0.367 | 0.923 | 9.2E-29 |
|
disease | 0.700 | definitive | 1.000 | 451 | 2254 | 1976 | 2019 | ||||||||
|
low density lipoprotein receptor | 0.449 | 0.885 | 9.8E-24 |
|
disease | 0.900 | strong | 0.982 | 456 | 1279 | 1964 | 2020 | ||||||||
|
BRCA2 DNA repair associated | 0.379 | 0.846 | 2.4E-25 |
|
disease | 0.800 | strong | 0.993 | 714 | 1160 | 1990 | 2020 | ||||||||
|
BRCA2 DNA repair associated | 0.379 | 0.846 | 2.4E-25 |
|
group | 0.130 | None | 1.000 | 701 | 1021 | 1996 | 2019 | ||||||||
|
fibrillin 1 | 0.417 | 0.846 | 1.00 |
|
disease | 1.000 | definitive | 0.986 | 179 | 986 | 1973 | 2020 | ||||||||
|
BRCA1 DNA repair associated | 0.367 | 0.923 | 9.2E-29 |
|
disease | 0.800 | strong | 0.986 | 800 | 874 | 1990 | 2020 | ||||||||
|
neurofibromin 1 | 0.440 | 0.885 | 0.90 |
|
disease | 1.000 | None | 0.976 | 185 | 764 | 1977 | 2020 | ||||||||
|
BRCA1 DNA repair associated | 0.367 | 0.923 | 9.2E-29 |
|
group | 0.150 | None | 1.000 | 744 | 705 | 1975 | 2019 | ||||||||
|
ATM serine/threonine kinase | 0.374 | 0.885 | 5.6E-47 |
|
disease | 1.000 | None | 0.982 | 253 | 661 | 1953 | 2020 | ||||||||
|
ATM serine/threonine kinase | 0.374 | 0.885 | 5.6E-47 |
|
group | 0.100 | None | 1.000 | 233 | 561 | 1989 | 2018 | ||||||||
|
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 | 0.800 | strong | 0.977 | 37 | 515 | 1975 | 2020 | ||||||||
|
mutL homolog 1 | 0.399 | 0.808 | 3.4E-05 |
|
disease | 0.900 | None | 0.977 | 199 | 497 | 1975 | 2020 | ||||||||
|
mutS homolog 2 | 0.406 | 0.808 | 0.90 |
|
disease | 1.000 | definitive | 0.983 | 179 | 459 | 1993 | 2020 | ||||||||
|
low density lipoprotein receptor | 0.449 | 0.885 | 9.8E-24 |
|
phenotype | 0.100 | None | 1.000 | 2 | 413 | 1992 | 1992 | ||||||||
|
collagen type III alpha 1 chain | 0.477 | 0.808 | 1.00 |
|
disease | 1.000 | definitive | 1.000 | 26 | 388 | 1980 | 2019 | ||||||||
|
fibrillin 1 | 0.417 | 0.846 | 1.00 |
|
disease | 0.600 | definitive | 1.000 | 155 | 361 | 1973 | 2019 | ||||||||
|
collagen type IV alpha 5 chain | 0.553 | 0.654 | 1.00 |
|
disease | 0.900 | strong | 1.000 | 49 | 344 | 1991 | 2017 | ||||||||
|
APC regulator of WNT signaling pathway | 0.373 | 0.962 | 1.00 |
|
disease | 0.400 | None | 1.000 | 163 | 332 | 1991 | 2017 | ||||||||
|
mutS homolog 6 | 0.462 | 0.731 | 3.7E-05 |
|
group | 0.110 | None | 1.000 | 190 | 331 | 1994 | 2018 | ||||||||
|
F-box protein 11 | 0.604 | 0.692 | 1.00 |
|
group | 0.100 | None | 1.000 | 187 | 321 | 1994 | 2017 | ||||||||
|
low density lipoprotein receptor | 0.449 | 0.885 | 9.8E-24 |
|
phenotype | 0.100 | None | 0 | 318 | |||||||||||
|
methyl-CpG binding protein 2 | 0.414 | 0.846 | 0.89 |
|
disease | 1.000 | definitive | 0.977 | 132 | 316 | 1975 | 2020 | ||||||||
|
ATP binding cassette subfamily C member 6 | 0.540 | 0.654 | 5.6E-35 |
|
disease | 1.000 | None | 0.982 | 8 | 311 | 1978 | 2020 |