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. | ||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
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 | ||||||||
|
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 | ||||||||
|
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 | ||||||||
|
galactosidase alpha | 0.537 | 0.769 | 1.00 |
|
disease | 1.000 | definitive | 0.992 | 7 | 0 | 1967 | 2020 | ||||||||
|
lysosomal associated membrane protein 2 | 0.552 | 0.731 | 0.27 |
|
disease | 1.000 | definitive | 1.000 | 7 | 0 | 1995 | 2020 | ||||||||
|
nibrin | 0.467 | 0.808 | 2.2E-16 |
|
disease | 1.000 | definitive | 0.981 | 7 | 0 | 1985 | 2019 | ||||||||
|
ATM serine/threonine kinase | 0.374 | 0.885 | 5.6E-47 |
|
disease | 1.000 | None | 0.982 | 7 | 0 | 1953 | 2020 | ||||||||
|
forkhead box P3 | 0.368 | 0.846 | 0.99 |
|
disease | 1.000 | None | 0.971 | 7 | 0 | 1991 | 2019 | ||||||||
|
protein tyrosine phosphatase non-receptor type 11 | 0.385 | 0.923 | 1.00 |
|
disease | 1.000 | definitive | 0.987 | 7 | 0 | 2001 | 2020 | ||||||||
|
ryanodine receptor 2 | 0.539 | 0.615 | 1.00 |
|
disease | 1.000 | None | 0.995 | 7 | 0 | 2001 | 2020 | ||||||||
|
collagen type III alpha 1 chain | 0.477 | 0.808 | 1.00 |
|
disease | 1.000 | definitive | 1.000 | 6 | 0 | 1980 | 2019 | ||||||||
|
ATP binding cassette subfamily D member 1 | 0.563 | 0.731 | 1.00 |
|
disease | 1.000 | definitive | 0.977 | 6 | 0 | 1981 | 2020 | ||||||||
|
galactosylceramidase | 0.604 | 0.615 | 5.2E-15 |
|
disease | 1.000 | None | 1.000 | 6 | 0 | 1970 | 2020 | ||||||||
|
gap junction protein alpha 1 | 0.393 | 0.885 | 0.16 |
|
disease | 1.000 | None | 1.000 | 6 | 0 | 1975 | 2019 | ||||||||
|
hexosaminidase subunit alpha | 0.633 | 0.615 | 1.3E-11 |
|
disease | 1.000 | None | 1.000 | 6 | 0 | 1982 | 2019 | ||||||||
|
NPC intracellular cholesterol transporter 1 | 0.518 | 0.692 | 6.5E-06 |
|
disease | 1.000 | strong | 0.994 | 6 | 0 | 1988 | 2020 | ||||||||
|
ATPase copper transporting alpha | 0.494 | 0.769 | 1.00 |
|
disease | 1.000 | definitive | 1.000 | 6 | 0 | 1953 | 2019 | ||||||||
|
ATRX chromatin remodeler | 0.452 | 0.808 | 1.00 |
|
disease | 1.000 | None | 0.982 | 6 | 0 | 1995 | 2019 |