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. | ||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
fibrillin 1 | 0.417 | 0.846 | 1.00 |
|
disease | 1.000 | definitive | 0.986 | 33 | 0 | 1973 | 2020 | ||||||||
|
dystrophin | 0.423 | 0.923 | 1.00 |
|
disease | 1.000 | strong | 0.980 | 25 | 0 | 1981 | 2020 | ||||||||
|
methyl-CpG binding protein 2 | 0.414 | 0.846 | 0.89 |
|
disease | 1.000 | definitive | 0.977 | 23 | 0 | 1975 | 2020 | ||||||||
|
CF transmembrane conductance regulator | 0.424 | 0.885 | 2.2E-58 |
|
disease | 1.000 | None | 0.979 | 20 | 0 | 1989 | 2020 | ||||||||
|
lysosomal trafficking regulator | 0.621 | 0.692 | 1.5E-02 |
|
disease | 1.000 | None | 0.982 | 19 | 0 | 1968 | 2019 | ||||||||
|
ornithine carbamoyltransferase | 0.565 | 0.846 | 0.87 |
|
disease | 1.000 | definitive | 1.000 | 18 | 0 | 1976 | 2018 | ||||||||
|
huntingtin | 0.548 | 0.654 | 1.00 |
|
disease | 1.000 | limited | 0.987 | 15 | 0 | 1993 | 2020 | ||||||||
|
Fas cell surface death receptor | 0.372 | 0.923 | 0.81 |
|
disease | 1.000 | strong | 1.000 | 15 | 0 | 1978 | 2018 | ||||||||
|
growth hormone receptor | 0.490 | 0.846 | 8.4E-05 |
|
disease | 1.000 | None | 0.980 | 14 | 0 | 1987 | 2020 | ||||||||
|
ATM serine/threonine kinase | 0.374 | 0.885 | 5.6E-47 |
|
disease | 1.000 | None | 0.982 | 14 | 0 | 1953 | 2020 | ||||||||
|
T-box transcription factor 1 | 0.433 | 0.808 | 0.84 |
|
disease | 1.000 | None | 0.988 | 14 | 0 | 1995 | 2019 | ||||||||
|
lamin A/C | 0.384 | 0.885 | 1.00 |
|
disease | 1.000 | None | 0.967 | 12 | 0 | 2003 | 2020 | ||||||||
|
phosphate regulating endopeptidase homolog X-linked | 0.548 | 0.808 | 1.00 |
|
disease | 1.000 | strong | 0.976 | 12 | 0 | 1987 | 2020 | ||||||||
|
polycystin 1, transient receptor potential channel interacting | 0.493 | 0.769 | 1.00 |
|
disease | 1.000 | definitive | 0.986 | 12 | 0 | 1992 | 2018 | ||||||||
|
ATPase copper transporting alpha | 0.494 | 0.769 | 1.00 |
|
disease | 1.000 | definitive | 1.000 | 12 | 0 | 1953 | 2019 | ||||||||
|
FMRP translational regulator 1 | 0.473 | 0.769 | 0.65 |
|
disease | 1.000 | definitive | 0.985 | 11 | 0 | 1991 | 2020 | ||||||||
|
glucokinase | 0.523 | 0.808 | 0.63 |
|
disease | 1.000 | strong | 1.000 | 9 | 0 | 1992 | 2019 | ||||||||
|
myosin VIIA | 0.585 | 0.423 | 1.6E-38 |
|
disease | 1.000 | definitive | 0.990 | 9 | 0 | 1956 | 2020 | ||||||||
|
PKHD1 ciliary IPT domain containing fibrocystin/polyductin | 0.576 | 0.654 | 1.2E-47 |
|
disease | 1.000 | None | 1.000 | 9 | 0 | 1975 | 2019 | ||||||||
|
ATPase copper transporting beta | 0.529 | 0.654 | 4.8E-30 |
|
disease | 1.000 | definitive | 0.980 | 9 | 0 | 1983 | 2020 | ||||||||
|
RUNX family transcription factor 2 | 0.437 | 0.846 | 0.95 |
|
disease | 1.000 | None | 0.976 | 9 | 0 | 1997 | 2019 | ||||||||
|
hexosaminidase subunit beta | 0.644 | 0.654 | 3.5E-10 |
|
disease | 1.000 | strong | 0.987 | 8 | 0 | 1989 | 2020 | ||||||||
|
androgen receptor | 0.351 | 0.846 | 0.99 |
|
disease | 1.000 | None | 0.966 | 8 | 0 | 1970 | 2019 | ||||||||
|
laminin subunit alpha 2 | 0.553 | 0.692 | 2.4E-47 |
|
disease | 1.000 | strong | 1.000 | 8 | 0 | 1955 | 2018 | ||||||||
|
aspartoacylase | 0.564 | 0.731 | 4.1E-04 |
|
disease | 1.000 | strong | 0.967 | 8 | 0 | 1990 | 2020 |