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. | ||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
dystrophin | 0.423 | 0.923 | 1.00 |
|
disease | 1.000 | strong | 0.980 | 2 | 0 | 1981 | 2020 | ||||||||
|
coagulation factor VIII | 0.542 | 0.769 | 1.00 |
|
disease | 1.000 | definitive | 0.983 | 2 | 0 | 1977 | 2020 | ||||||||
|
fumarylacetoacetate hydrolase | 0.612 | 0.538 | 4.0E-17 |
|
disease | 1.000 | definitive | 0.990 | 2 | 0 | 1981 | 2019 | ||||||||
|
huntingtin | 0.548 | 0.654 | 1.00 |
|
disease | 1.000 | limited | 0.987 | 2 | 0 | 1993 | 2020 | ||||||||
|
melanocortin 4 receptor | 0.535 | 0.692 | 9.2E-04 |
|
disease | 1.000 | None | 0.961 | 2 | 0 | 1997 | 2020 | ||||||||
|
PKHD1 ciliary IPT domain containing fibrocystin/polyductin | 0.576 | 0.654 | 1.2E-47 |
|
disease | 1.000 | None | 1.000 | 2 | 0 | 1975 | 2019 | ||||||||
|
ATPase copper transporting beta | 0.529 | 0.654 | 4.8E-30 |
|
disease | 1.000 | definitive | 0.980 | 2 | 0 | 1983 | 2020 | ||||||||
|
CF transmembrane conductance regulator | 0.424 | 0.885 | 2.2E-58 |
|
disease | 1.000 | None | 0.979 | 1 | 0 | 1989 | 2020 | ||||||||
|
CF transmembrane conductance regulator | 0.424 | 0.885 | 2.2E-58 |
|
disease | 1.000 | strong | 0.965 | 1 | 0 | 1992 | 2019 | ||||||||
|
lysosomal trafficking regulator | 0.621 | 0.692 | 1.5E-02 |
|
disease | 1.000 | None | 0.982 | 1 | 0 | 1968 | 2019 | ||||||||
|
ATP binding cassette subfamily C member 2 | 0.483 | 0.808 | 5.2E-47 |
|
disease | 1.000 | strong | 1.000 | 1 | 0 | 1996 | 2020 | ||||||||
|
endothelin receptor type B | 0.470 | 0.846 | 9.2E-03 |
|
disease | 1.000 | moderate | 1.000 | 1 | 0 | 1994 | 2018 | ||||||||
|
FMRP translational regulator 1 | 0.473 | 0.769 | 0.65 |
|
disease | 1.000 | definitive | 0.985 | 1 | 0 | 1991 | 2020 | ||||||||
|
hepatocyte nuclear factor 4 alpha | 0.461 | 0.808 | 0.15 |
|
disease | 1.000 | None | 0.942 | 1 | 0 | 1992 | 2019 | ||||||||
|
APC regulator of WNT signaling pathway | 0.373 | 0.962 | 1.00 |
|
disease | 1.000 | strong | 0.961 | 1 | 0 | 1989 | 2020 | ||||||||
|
androgen receptor | 0.351 | 0.846 | 0.99 |
|
disease | 1.000 | None | 0.966 | 1 | 0 | 1970 | 2019 | ||||||||
|
androgen receptor | 0.351 | 0.846 | 0.99 |
|
disease | 1.000 | limited | 0.982 | 1 | 0 | 1992 | 2020 | ||||||||
|
ATP binding cassette subfamily C member 6 | 0.540 | 0.654 | 5.6E-35 |
|
disease | 1.000 | None | 0.982 | 1 | 0 | 1978 | 2020 | ||||||||
|
potassium voltage-gated channel subfamily A member 1 | 0.573 | 0.577 | 7.6E-02 |
|
disease | 1.000 | None | 0.974 | 1 | 0 | 1994 | 2018 | ||||||||
|
L1 cell adhesion molecule | 0.475 | 0.769 | 1.00 |
|
disease | 1.000 | None | 0.984 | 1 | 0 | 1986 | 2020 | ||||||||
|
lysosomal associated membrane protein 2 | 0.552 | 0.731 | 0.27 |
|
disease | 1.000 | definitive | 1.000 | 1 | 0 | 1995 | 2020 | ||||||||
|
arylsulfatase B | 0.595 | 0.692 | 7.0E-09 |
|
disease | 1.000 | strong | 1.000 | 1 | 0 | 1979 | 2019 | ||||||||
|
methyl-CpG binding protein 2 | 0.414 | 0.846 | 0.89 |
|
disease | 1.000 | definitive | 0.977 | 1 | 0 | 1975 | 2020 | ||||||||
|
MET proto-oncogene, receptor tyrosine kinase | 0.380 | 0.846 | 0.97 |
|
disease | 1.000 | None | 0.969 | 1 | 0 | 1994 | 2020 | ||||||||
|
MPL proto-oncogene, thrombopoietin receptor | 0.510 | 0.692 | 4.1E-09 |
|
disease | 1.000 | None | 0.978 | 1 | 0 | 1995 | 2020 |