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 | 13 | 2632 | 1988 | 2019 | ||||||||
|
BRCA1 DNA repair associated | 0.367 | 0.923 | 9.2E-29 |
|
disease | 0.700 | definitive | 1.000 | 16 | 2258 | 1976 | 2019 | ||||||||
|
low density lipoprotein receptor | 0.449 | 0.885 | 9.8E-24 |
|
disease | 0.900 | strong | 0.982 | 9 | 1279 | 1964 | 2020 | ||||||||
|
BRCA2 DNA repair associated | 0.379 | 0.846 | 2.4E-25 |
|
disease | 0.800 | strong | 0.993 | 4 | 1160 | 1990 | 2020 | ||||||||
|
fibrillin 1 | 0.417 | 0.846 | 1.00 |
|
disease | 1.000 | definitive | 0.986 | 60 | 991 | 1973 | 2020 | ||||||||
|
BRCA1 DNA repair associated | 0.367 | 0.923 | 9.2E-29 |
|
disease | 0.800 | strong | 0.986 | 5 | 874 | 1990 | 2020 | ||||||||
|
neurofibromin 1 | 0.440 | 0.885 | 0.90 |
|
disease | 1.000 | None | 0.976 | 44 | 799 | 1977 | 2020 | ||||||||
|
ATM serine/threonine kinase | 0.374 | 0.885 | 5.6E-47 |
|
disease | 1.000 | None | 0.982 | 37 | 677 | 1953 | 2020 | ||||||||
|
CF transmembrane conductance regulator | 0.424 | 0.885 | 2.2E-58 |
|
disease | 1.000 | None | 0.979 | 91 | 605 | 1989 | 2020 | ||||||||
|
low density lipoprotein receptor | 0.449 | 0.885 | 9.8E-24 |
|
disease | 0.800 | strong | 0.977 | 61 | 558 | 1975 | 2020 | ||||||||
|
unc-51 like kinase 4 | 0.722 | 0.385 | 4.4E-38 |
|
disease | 0.400 | None | 1.000 | 1 | 506 | 2011 | 2017 | ||||||||
|
mutL homolog 1 | 0.399 | 0.808 | 3.4E-05 |
|
disease | 0.900 | None | 0.977 | 7 | 497 | 1975 | 2020 | ||||||||
|
mutS homolog 2 | 0.406 | 0.808 | 0.90 |
|
disease | 1.000 | definitive | 0.983 | 11 | 459 | 1993 | 2020 | ||||||||
|
collagen type IV alpha 5 chain | 0.553 | 0.654 | 1.00 |
|
disease | 0.900 | strong | 1.000 | 24 | 450 | 1991 | 2017 | ||||||||
|
sodium voltage-gated channel alpha subunit 1 | 0.477 | 0.808 | 1.00 |
|
disease | 0.800 | None | 1.000 | 46 | 390 | 2000 | 2018 | ||||||||
|
collagen type III alpha 1 chain | 0.477 | 0.808 | 1.00 |
|
disease | 1.000 | definitive | 1.000 | 43 | 390 | 1980 | 2019 | ||||||||
|
phenylalanine hydroxylase | 0.516 | 0.769 | 6.4E-23 |
|
disease | 0.800 | strong | 0.996 | 47 | 381 | 1975 | 2019 | ||||||||
|
fibrillin 1 | 0.417 | 0.846 | 1.00 |
|
disease | 0.600 | definitive | 1.000 | 6 | 361 | 1973 | 2019 | ||||||||
|
solute carrier family 2 member 9 | 0.619 | 0.731 | 6.9E-10 |
|
disease | 0.400 | None | 1.000 | 2 | 351 | 2007 | 2019 | ||||||||
|
methyl-CpG binding protein 2 | 0.414 | 0.846 | 0.89 |
|
disease | 1.000 | definitive | 0.977 | 50 | 335 | 1975 | 2020 | ||||||||
|
APC regulator of WNT signaling pathway | 0.373 | 0.962 | 1.00 |
|
disease | 0.400 | None | 1.000 | 11 | 332 | 1991 | 2017 | ||||||||
|
ATPase copper transporting beta | 0.529 | 0.654 | 4.8E-30 |
|
disease | 1.000 | definitive | 0.980 | 136 | 318 | 1983 | 2020 | ||||||||
|
ATP binding cassette subfamily C member 6 | 0.540 | 0.654 | 5.6E-35 |
|
disease | 1.000 | None | 0.982 | 26 | 312 | 1978 | 2020 | ||||||||
|
usherin | 0.579 | 0.692 | 1.6E-94 |
|
disease | 1.000 | None | 1.000 | 26 | 311 | 1998 | 2017 | ||||||||
|
bone morphogenetic protein receptor type 2 | 0.538 | 0.654 | 1.00 |
|
disease | 0.700 | moderate | 1.000 | 12 | 308 | 2000 | 2018 |