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. | ||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
acyl-CoA dehydrogenase medium chain | 0.638 | 0.462 | 2.1E-12 |
|
disease | 1.000 | definitive | 0.991 | 88 | 106 | 1983 | 2019 | ||||||||
|
glial fibrillary acidic protein | 0.421 | 0.885 | 1.5E-06 |
|
disease | 1.000 | None | 0.972 | 87 | 89 | 1976 | 2020 | ||||||||
|
DNA polymerase gamma, catalytic subunit | 0.457 | 0.846 | 2.1E-09 |
|
disease | 1.000 | None | 0.992 | 85 | 123 | 2001 | 2019 | ||||||||
|
arylsulfatase A | 0.448 | 0.923 | 1.1E-11 |
|
disease | 1.000 | None | 0.978 | 83 | 94 | 1975 | 2019 | ||||||||
|
7-dehydrocholesterol reductase | 0.500 | 0.846 | 3.9E-13 |
|
disease | 1.000 | definitive | 0.987 | 78 | 84 | 1987 | 2018 | ||||||||
|
acyl-CoA dehydrogenase very long chain | 0.653 | 0.654 | 4.2E-15 |
|
disease | 1.000 | definitive | 0.989 | 77 | 108 | 1985 | 2020 | ||||||||
|
alkaline phosphatase, biomineralization associated | 0.546 | 0.769 | 3.6E-04 |
|
disease | 1.000 | None | 1.000 | 74 | 71 | 1987 | 2019 | ||||||||
|
dysferlin | 0.582 | 0.692 | 3.7E-33 |
|
disease | 1.000 | None | 0.992 | 74 | 139 | 1989 | 2019 | ||||||||
|
APC regulator of WNT signaling pathway | 0.373 | 0.962 | 1.00 |
|
disease | 1.000 | strong | 0.961 | 73 | 154 | 1989 | 2020 | ||||||||
|
biotinidase | 0.628 | 0.654 | 1.5E-07 |
|
disease | 1.000 | definitive | 0.988 | 72 | 186 | 1993 | 2019 | ||||||||
|
phosphatase and tensin homolog | 0.305 | 0.923 | 0.26 |
|
disease | 1.000 | None | 0.961 | 70 | 89 | 1972 | 2019 | ||||||||
|
protein tyrosine phosphatase non-receptor type 11 | 0.385 | 0.923 | 1.00 |
|
disease | 1.000 | definitive | 0.982 | 70 | 11 | 2001 | 2019 | ||||||||
|
protein tyrosine phosphatase non-receptor type 11 | 0.385 | 0.923 | 1.00 |
|
disease | 1.000 | None | 0.983 | 68 | 23 | 2000 | 2020 | ||||||||
|
solute carrier family 22 member 5 | 0.608 | 0.731 | 5.3E-16 |
|
disease | 1.000 | definitive | 0.979 | 66 | 90 | 1985 | 2019 | ||||||||
|
myosin VIIA | 0.585 | 0.423 | 1.6E-38 |
|
disease | 1.000 | definitive | 0.990 | 65 | 126 | 1956 | 2020 | ||||||||
|
arylsulfatase B | 0.595 | 0.692 | 7.0E-09 |
|
disease | 1.000 | strong | 1.000 | 64 | 109 | 1979 | 2019 | ||||||||
|
amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase | 0.644 | 0.615 | 2.8E-27 |
|
disease | 1.000 | None | 0.988 | 59 | 123 | 1987 | 2020 | ||||||||
|
galactosylceramidase | 0.604 | 0.615 | 5.2E-15 |
|
disease | 1.000 | None | 1.000 | 59 | 94 | 1970 | 2020 | ||||||||
|
coagulation factor XI | 0.590 | 0.692 | 3.6E-26 |
|
disease | 1.000 | strong | 1.000 | 58 | 76 | 1981 | 2019 | ||||||||
|
superoxide dismutase 1 | 0.379 | 0.962 | 0.18 |
|
disease | 1.000 | strong | 0.980 | 56 | 33 | 1976 | 2019 | ||||||||
|
B-Raf proto-oncogene, serine/threonine kinase | 0.319 | 0.846 | 1.00 |
|
disease | 1.000 | None | 0.983 | 56 | 31 | 1986 | 2020 | ||||||||
|
folliculin | 0.537 | 0.885 | 0.79 |
|
disease | 1.000 | definitive | 0.968 | 55 | 88 | 2002 | 2020 | ||||||||
|
serine/threonine kinase 11 | 0.435 | 0.808 | 0.99 |
|
disease | 1.000 | definitive | 0.992 | 55 | 74 | 1997 | 2019 | ||||||||
|
HRas proto-oncogene, GTPase | 0.378 | 0.885 | 8.0E-02 |
|
disease | 1.000 | definitive | 0.974 | 54 | 16 | 1982 | 2020 | ||||||||
|
autoimmune regulator | 0.516 | 0.808 | 4.0E-12 |
|
disease | 1.000 | None | 0.985 | 53 | 60 | 1991 | 2020 |