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 | ||||||||
|
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 | ||||||||
|
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 | ||||||||
|
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 | ||||||||
|
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 | ||||||||
|
protein O-mannosyltransferase 2 | 0.544 | 0.615 | 9.4E-12 |
|
disease | 0.600 | None | 1.000 | 7 | 0 | 2005 | 2017 | ||||||||
|
mevalonate kinase | 0.576 | 0.731 | 0.17 |
|
disease | 0.800 | None | 1.000 | 7 | 0 | 1992 | 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 | ||||||||
|
regulator of telomere elongation helicase 1 | 0.459 | 0.808 | 8.9E-10 |
|
disease | 0.700 | None | 1.000 | 7 | 0 | 2009 | 2018 | ||||||||
|
peroxisomal biogenesis factor 1 | 0.538 | 0.769 | 1.1E-14 |
|
disease | 0.600 | None | 1.000 | 7 | 0 | 1997 | 2017 | ||||||||
|
protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | 0.537 | 0.538 | 1.9E-20 |
|
disease | 0.600 | None | 1.000 | 7 | 0 | 2001 | 2016 | ||||||||
|
coiled-coil and C2 domain containing 2A | 0.532 | 0.692 | 1.7E-27 |
|
disease | 0.700 | None | 1.000 | 7 | 0 | 2008 | 2017 | ||||||||
|
coiled-coil and C2 domain containing 2A | 0.532 | 0.692 | 1.7E-27 |
|
disease | 0.700 | None | 1.000 | 7 | 0 | 2008 | 2017 | ||||||||
|
protein tyrosine phosphatase non-receptor type 11 | 0.385 | 0.923 | 1.00 |
|
disease | 0.700 | None | 1.000 | 7 | 0 | 2001 | 2018 | ||||||||
|
ryanodine receptor 2 | 0.539 | 0.615 | 1.00 |
|
disease | 1.000 | None | 0.995 | 7 | 0 | 2001 | 2020 | ||||||||
|
telomerase reverse transcriptase | 0.374 | 0.846 | 0.99 |
|
disease | 0.600 | None | 1.000 | 7 | 0 | 2005 | 2016 |