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 | 407 | 2632 | 1988 | 2019 | ||||||||
|
BRCA1 DNA repair associated | 0.367 | 0.923 | 9.2E-29 |
|
disease | 0.700 | definitive | 1.000 | 465 | 2258 | 1976 | 2019 | ||||||||
|
low density lipoprotein receptor | 0.449 | 0.885 | 9.8E-24 |
|
disease | 0.900 | strong | 0.982 | 955 | 1292 | 1964 | 2020 | ||||||||
|
BRCA2 DNA repair associated | 0.379 | 0.846 | 2.4E-25 |
|
disease | 0.800 | strong | 0.993 | 850 | 1161 | 1990 | 2020 | ||||||||
|
BRCA2 DNA repair associated | 0.379 | 0.846 | 2.4E-25 |
|
group | 0.130 | None | 1.000 | 704 | 1021 | 1996 | 2019 | ||||||||
|
fibrillin 1 | 0.417 | 0.846 | 1.00 |
|
disease | 1.000 | definitive | 0.986 | 518 | 1000 | 1973 | 2020 | ||||||||
|
BRCA1 DNA repair associated | 0.367 | 0.923 | 9.2E-29 |
|
disease | 0.800 | strong | 0.986 | 1038 | 879 | 1990 | 2020 | ||||||||
|
neurofibromin 1 | 0.440 | 0.885 | 0.90 |
|
disease | 1.000 | None | 0.976 | 575 | 803 | 1977 | 2020 | ||||||||
|
BRCA1 DNA repair associated | 0.367 | 0.923 | 9.2E-29 |
|
group | 0.150 | None | 1.000 | 749 | 705 | 1975 | 2019 | ||||||||
|
ATM serine/threonine kinase | 0.374 | 0.885 | 5.6E-47 |
|
disease | 1.000 | None | 0.982 | 623 | 680 | 1953 | 2020 | ||||||||
|
CF transmembrane conductance regulator | 0.424 | 0.885 | 2.2E-58 |
|
disease | 1.000 | None | 0.979 | 2327 | 632 | 1989 | 2020 | ||||||||
|
low density lipoprotein receptor | 0.449 | 0.885 | 9.8E-24 |
|
disease | 0.800 | strong | 0.977 | 664 | 600 | 1975 | 2020 | ||||||||
|
ATM serine/threonine kinase | 0.374 | 0.885 | 5.6E-47 |
|
group | 0.100 | None | 1.000 | 233 | 561 | 1989 | 2018 | ||||||||
|
mutL homolog 1 | 0.399 | 0.808 | 3.4E-05 |
|
disease | 0.900 | None | 0.977 | 652 | 519 | 1975 | 2020 | ||||||||
|
unc-51 like kinase 4 | 0.722 | 0.385 | 4.4E-38 |
|
disease | 0.400 | None | 1.000 | 6 | 506 | 2011 | 2017 | ||||||||
|
mutS homolog 2 | 0.406 | 0.808 | 0.90 |
|
disease | 1.000 | definitive | 0.983 | 600 | 464 | 1993 | 2020 | ||||||||
|
collagen type IV alpha 5 chain | 0.553 | 0.654 | 1.00 |
|
disease | 0.900 | strong | 1.000 | 64 | 450 | 1991 | 2017 | ||||||||
|
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 | 85 | 390 | 1980 | 2019 | ||||||||
|
sodium voltage-gated channel alpha subunit 1 | 0.477 | 0.808 | 1.00 |
|
disease | 0.800 | None | 1.000 | 75 | 390 | 2000 | 2018 | ||||||||
|
SCN1A and SCN9A antisense RNA 1 | 0.636 | 0.346 |
|
disease | 0.100 | None | 1.000 | 45 | 390 | 2001 | 2015 | |||||||||
|
phenylalanine hydroxylase | 0.516 | 0.769 | 6.4E-23 |
|
disease | 0.800 | strong | 0.996 | 488 | 383 | 1975 | 2019 | ||||||||
|
fibrillin 1 | 0.417 | 0.846 | 1.00 |
|
disease | 0.600 | definitive | 1.000 | 158 | 361 | 1973 | 2019 | ||||||||
|
solute carrier family 2 member 9 | 0.619 | 0.731 | 6.9E-10 |
|
disease | 0.400 | None | 1.000 | 13 | 352 | 2007 | 2019 | ||||||||
|
solute carrier family 2 member 9 | 0.619 | 0.731 | 6.9E-10 |
|
disease | 0.120 | None | 1.000 | 15 | 351 | 2007 | 2019 |