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. | ||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
mutL homolog 1 | 0.399 | 0.808 | 3.4E-05 |
|
disease | 0.710 | definitive | 1.000 | 60 | 98 | 1994 | 2017 | ||||||||
|
gap junction protein beta 1 | 0.514 | 0.731 | 0.85 |
|
disease | 1.000 | None | 1.000 | 58 | 72 | 1993 | 2019 | ||||||||
|
myosin heavy chain 7 | 0.516 | 0.692 | 4.2E-16 |
|
disease | 0.700 | strong | 1.000 | 56 | 113 | 1961 | 2017 | ||||||||
|
mutS homolog 2 | 0.406 | 0.808 | 0.90 |
|
disease | 0.600 | strong | 1.000 | 54 | 84 | 1993 | 2017 | ||||||||
|
ryanodine receptor 1 | 0.489 | 0.808 | 1.6E-29 |
|
disease | 0.700 | strong | 1.000 | 44 | 89 | 1991 | 2017 | ||||||||
|
sodium voltage-gated channel alpha subunit 1 | 0.477 | 0.808 | 1.00 |
|
disease | 0.800 | None | 1.000 | 43 | 184 | 2000 | 2018 | ||||||||
|
spastin | 0.579 | 0.577 | 1.00 |
|
disease | 1.000 | None | 1.000 | 43 | 26 | 1991 | 2019 | ||||||||
|
leucine rich repeat kinase 2 | 0.510 | 0.808 | 2.6E-30 |
|
disease | 0.930 | None | 1.000 | 42 | 30 | 2004 | 2019 | ||||||||
|
cystathionine beta-synthase | 0.465 | 0.885 | 3.1E-05 |
|
disease | 0.800 | definitive | 1.000 | 40 | 68 | 1959 | 2019 | ||||||||
|
myelin protein zero | 0.503 | 0.846 | 0.27 |
|
disease | 1.000 | None | 1.000 | 39 | 30 | 1992 | 2019 | ||||||||
|
collagen type I alpha 1 chain | 0.430 | 0.808 | 1.00 |
|
disease | 0.890 | None | 1.000 | 37 | 61 | 1986 | 2019 | ||||||||
|
myocilin | 0.595 | 0.500 | 7.6E-12 |
|
disease | 0.720 | strong | 1.000 | 36 | 36 | 1996 | 2015 | ||||||||
|
sodium voltage-gated channel alpha subunit 5 | 0.513 | 0.654 | 0.91 |
|
disease | 0.910 | None | 1.000 | 33 | 217 | 1995 | 2018 | ||||||||
|
sodium voltage-gated channel alpha subunit 1 | 0.477 | 0.808 | 1.00 |
|
disease | 0.730 | None | 1.000 | 31 | 33 | 2000 | 2012 | ||||||||
|
ornithine carbamoyltransferase | 0.565 | 0.846 | 0.87 |
|
disease | 1.000 | definitive | 1.000 | 30 | 107 | 1976 | 2018 | ||||||||
|
protoporphyrinogen oxidase | 0.678 | 0.500 | 2.8E-02 |
|
disease | 0.900 | None | 1.000 | 30 | 18 | 1981 | 2019 | ||||||||
|
sodium voltage-gated channel alpha subunit 5 | 0.513 | 0.654 | 0.91 |
|
disease | 1.000 | None | 1.000 | 29 | 141 | 1995 | 2018 | ||||||||
|
collagen type III alpha 1 chain | 0.477 | 0.808 | 1.00 |
|
disease | 1.000 | definitive | 1.000 | 28 | 80 | 1980 | 2019 | ||||||||
|
desmin | 0.460 | 0.846 | 8.8E-03 |
|
disease | 1.000 | definitive | 1.000 | 28 | 29 | 1989 | 2019 | ||||||||
|
norrin cystine knot growth factor NDP | 0.566 | 0.692 | 0.65 |
|
disease | 1.000 | definitive | 1.000 | 28 | 17 | 1992 | 2019 | ||||||||
|
sodium voltage-gated channel alpha subunit 2 | 0.518 | 0.731 | 1.00 |
|
disease | 0.700 | None | 1.000 | 27 | 21 | 2004 | 2019 | ||||||||
|
coagulation factor VII | 0.623 | 0.615 | 1.3E-05 |
|
disease | 0.740 | definitive | 1.000 | 26 | 66 | 1988 | 2019 | ||||||||
|
protein S | 0.467 | 0.846 | 4.7E-04 |
|
disease | 0.600 | strong | 1.000 | 26 | 34 | 1994 | 2016 | ||||||||
|
rhodopsin | 0.525 | 0.769 | 1.3E-04 |
|
disease | 0.910 | None | 1.000 | 26 | 35 | 1990 | 2018 | ||||||||
|
ryanodine receptor 1 | 0.489 | 0.808 | 1.6E-29 |
|
disease | 1.000 | None | 1.000 | 26 | 54 | 1993 | 2019 |