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. | ||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
myelin protein zero | 0.503 | 0.846 | 0.27 |
|
disease | 1.000 | None | 1.000 | 39 | 51 | 1992 | 2019 | ||||||||
|
norrin cystine knot growth factor NDP | 0.566 | 0.692 | 0.65 |
|
disease | 1.000 | definitive | 1.000 | 39 | 23 | 1992 | 2019 | ||||||||
|
desmin | 0.460 | 0.846 | 8.8E-03 |
|
disease | 1.000 | definitive | 1.000 | 38 | 47 | 1989 | 2019 | ||||||||
|
serpin family C member 1 | 0.507 | 0.769 | 1.00 |
|
disease | 1.000 | strong | 0.987 | 38 | 43 | 1984 | 2019 | ||||||||
|
FMRP translational regulator 1 | 0.473 | 0.769 | 0.65 |
|
disease | 1.000 | definitive | 0.985 | 37 | 6 | 1991 | 2020 | ||||||||
|
ATM serine/threonine kinase | 0.374 | 0.885 | 5.6E-47 |
|
disease | 1.000 | None | 0.982 | 37 | 677 | 1953 | 2020 | ||||||||
|
parkin RBR E3 ubiquitin protein ligase | 0.431 | 0.846 | 6.9E-07 |
|
disease | 1.000 | None | 0.994 | 37 | 28 | 1998 | 2019 | ||||||||
|
phosphatase and tensin homolog | 0.305 | 0.923 | 0.26 |
|
disease | 1.000 | None | 0.961 | 36 | 98 | 1972 | 2019 | ||||||||
|
7-dehydrocholesterol reductase | 0.500 | 0.846 | 3.9E-13 |
|
disease | 1.000 | definitive | 0.987 | 35 | 92 | 1987 | 2018 | ||||||||
|
BRCA1 DNA repair associated | 0.367 | 0.923 | 9.2E-29 |
|
disease | 1.000 | strong | 0.956 | 34 | 160 | 1992 | 2020 | ||||||||
|
ATP binding cassette subfamily D member 1 | 0.563 | 0.731 | 1.00 |
|
disease | 1.000 | definitive | 0.977 | 33 | 89 | 1981 | 2020 | ||||||||
|
paired box 3 | 0.481 | 0.769 | 0.24 |
|
disease | 1.000 | definitive | 0.987 | 33 | 43 | 1983 | 2019 | ||||||||
|
ryanodine receptor 1 | 0.489 | 0.808 | 1.6E-29 |
|
disease | 1.000 | None | 1.000 | 32 | 101 | 1993 | 2019 | ||||||||
|
calcium sensing receptor | 0.410 | 0.846 | 4.7E-02 |
|
disease | 1.000 | None | 0.993 | 32 | 42 | 1976 | 2020 | ||||||||
|
hexosaminidase subunit alpha | 0.633 | 0.615 | 1.3E-11 |
|
disease | 1.000 | None | 1.000 | 31 | 118 | 1982 | 2019 | ||||||||
|
glial fibrillary acidic protein | 0.421 | 0.885 | 1.5E-06 |
|
disease | 1.000 | None | 0.972 | 30 | 90 | 1976 | 2020 | ||||||||
|
sodium voltage-gated channel alpha subunit 5 | 0.513 | 0.654 | 0.91 |
|
disease | 1.000 | None | 1.000 | 30 | 153 | 1995 | 2018 | ||||||||
|
BRCA2 DNA repair associated | 0.379 | 0.846 | 2.4E-25 |
|
disease | 1.000 | strong | 0.951 | 30 | 174 | 1994 | 2020 | ||||||||
|
von Willebrand factor | 0.408 | 0.885 | 3.2E-25 |
|
disease | 1.000 | None | 0.974 | 30 | 37 | 1987 | 2020 | ||||||||
|
integrin subunit beta 3 | 0.485 | 0.846 | 1.7E-03 |
|
disease | 1.000 | definitive | 1.000 | 29 | 22 | 1982 | 2020 | ||||||||
|
HRas proto-oncogene, GTPase | 0.378 | 0.885 | 8.0E-02 |
|
disease | 1.000 | definitive | 0.974 | 28 | 17 | 1982 | 2020 | ||||||||
|
neurofibromin 2 | 0.468 | 0.885 | 1.00 |
|
disease | 1.000 | definitive | 0.987 | 28 | 46 | 1991 | 2020 | ||||||||
|
solute carrier family 26 member 4 | 0.507 | 0.885 | 9.0E-22 |
|
disease | 1.000 | definitive | 1.000 | 28 | 134 | 1996 | 2019 | ||||||||
|
arginine vasopressin | 0.437 | 0.846 | 7.4E-02 |
|
disease | 1.000 | None | 0.988 | 28 | 17 | 1978 | 2020 | ||||||||
|
solute carrier family 22 member 5 | 0.608 | 0.731 | 5.3E-16 |
|
disease | 1.000 | definitive | 0.979 | 28 | 119 | 1985 | 2019 |