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. | ||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
cytochrome P450 family 27 subfamily A member 1 | 0.538 | 0.731 | 5.3E-19 |
|
disease | 0.800 | None | 0.985 | 11 | 0 | 1975 | 2019 | ||||||||
|
neurofibromin 1 | 0.440 | 0.885 | 0.90 |
|
disease | 1.000 | None | 0.976 | 11 | 0 | 1977 | 2020 | ||||||||
|
lysosomal trafficking regulator | 0.621 | 0.692 | 1.5E-02 |
|
disease | 1.000 | None | 0.982 | 10 | 0 | 1968 | 2019 | ||||||||
|
lysine methyltransferase 2D | 0.465 | 0.808 | 1.00 |
|
disease | 1.000 | None | 0.989 | 10 | 0 | 1997 | 2020 | ||||||||
|
fukutin | 0.511 | 0.692 | 8.7E-07 |
|
disease | 1.000 | strong | 1.000 | 9 | 0 | 1992 | 2019 | ||||||||
|
phosphomannomutase 2 | 0.535 | 0.769 | 1.4E-17 |
|
disease | 0.800 | None | 1.000 | 9 | 0 | 1995 | 2019 | ||||||||
|
collagen type IV alpha 1 chain | 0.484 | 0.731 | 1.00 |
|
disease | 0.900 | None | 1.000 | 8 | 0 | 1977 | 2018 | ||||||||
|
folate receptor alpha | 0.522 | 0.885 | 0.13 |
|
phenotype | 0.790 | definitive | 0.952 | 8 | 0 | 1991 | 2019 | ||||||||
|
glucosylceramidase beta | 0.500 | 0.808 | 1.4E-06 |
|
disease | 1.000 | None | 0.984 | 8 | 0 | 1983 | 2020 | ||||||||
|
glial fibrillary acidic protein | 0.421 | 0.885 | 1.5E-06 |
|
disease | 1.000 | None | 0.972 | 8 | 0 | 1976 | 2020 | ||||||||
|
HRas proto-oncogene, GTPase | 0.378 | 0.885 | 8.0E-02 |
|
disease | 1.000 | definitive | 0.974 | 8 | 0 | 1982 | 2020 | ||||||||
|
protein tyrosine phosphatase non-receptor type 11 | 0.385 | 0.923 | 1.00 |
|
disease | 0.910 | None | 1.000 | 8 | 0 | 2001 | 2019 | ||||||||
|
aldehyde dehydrogenase 18 family member A1 | 0.551 | 0.769 | 8.1E-04 |
|
disease | 0.700 | None | 1.000 | 8 | 0 | 2000 | 2018 | ||||||||
|
three prime repair exonuclease 1 | 0.517 | 0.808 | 0.58 |
|
disease | 0.900 | None | 1.000 | 7 | 0 | 2004 | 2017 | ||||||||
|
7-dehydrocholesterol reductase | 0.500 | 0.846 | 3.9E-13 |
|
disease | 1.000 | definitive | 0.987 | 7 | 0 | 1987 | 2018 | ||||||||
|
FA complementation group A | 0.505 | 0.731 | 1.6E-68 |
|
disease | 1.000 | definitive | 0.986 | 7 | 0 | 1996 | 2020 | ||||||||
|
fibrillin 1 | 0.417 | 0.846 | 1.00 |
|
disease | 1.000 | definitive | 0.986 | 7 | 0 | 1973 | 2020 | ||||||||
|
fibroblast growth factor receptor 2 | 0.380 | 0.808 | 1.00 |
|
disease | 0.800 | None | 0.976 | 7 | 0 | 1994 | 2019 | ||||||||
|
fibroblast growth factor receptor 2 | 0.380 | 0.808 | 1.00 |
|
disease | 0.800 | None | 1.000 | 7 | 0 | 1994 | 2019 | ||||||||
|
metabolism of cobalamin associated C | 0.644 | 0.615 | 1.1E-13 |
|
disease | 0.950 | definitive | 1.000 | 7 | 0 | 2001 | 2019 | ||||||||
|
galactosidase alpha | 0.537 | 0.769 | 1.00 |
|
disease | 1.000 | definitive | 0.992 | 7 | 0 | 1967 | 2020 | ||||||||
|
protein O-mannosyltransferase 2 | 0.544 | 0.615 | 9.4E-12 |
|
disease | 0.600 | None | 1.000 | 7 | 0 | 2005 | 2017 | ||||||||
|
lysosomal associated membrane protein 2 | 0.552 | 0.731 | 0.27 |
|
disease | 1.000 | definitive | 1.000 | 7 | 0 | 1995 | 2020 | ||||||||
|
mevalonate kinase | 0.576 | 0.731 | 0.17 |
|
disease | 0.800 | None | 1.000 | 7 | 0 | 1992 | 2019 | ||||||||
|
nibrin | 0.467 | 0.808 | 2.2E-16 |
|
disease | 1.000 | definitive | 0.981 | 7 | 0 | 1985 | 2019 |