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. | ||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
potassium voltage-gated channel subfamily H member 2 | 0.522 | 0.731 | 1.00 |
|
disease | 0.800 | None | 0.989 | 30 | 226 | 1995 | 2019 | ||||||||
|
sodium voltage-gated channel alpha subunit 5 | 0.513 | 0.654 | 0.91 |
|
disease | 0.910 | None | 1.000 | 33 | 217 | 1995 | 2018 | ||||||||
|
coagulation factor VIII | 0.542 | 0.769 | 1.00 |
|
disease | 1.000 | definitive | 0.983 | 80 | 198 | 1977 | 2020 | ||||||||
|
potassium voltage-gated channel subfamily Q member 1 | 0.485 | 0.769 | 4.5E-08 |
|
disease | 1.000 | None | 0.990 | 41 | 196 | 1996 | 2019 | ||||||||
|
phenylalanine hydroxylase | 0.516 | 0.769 | 6.4E-23 |
|
disease | 0.800 | strong | 0.996 | 43 | 185 | 1975 | 2019 | ||||||||
|
sodium voltage-gated channel alpha subunit 1 | 0.477 | 0.808 | 1.00 |
|
disease | 0.800 | None | 1.000 | 43 | 184 | 2000 | 2018 | ||||||||
|
ATPase copper transporting beta | 0.529 | 0.654 | 4.8E-30 |
|
disease | 1.000 | definitive | 0.980 | 81 | 179 | 1983 | 2020 | ||||||||
|
ATP binding cassette subfamily A member 4 | 0.493 | 0.769 | 5.3E-48 |
|
disease | 1.000 | None | 0.978 | 20 | 175 | 1997 | 2020 | ||||||||
|
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 IV alpha 5 chain | 0.553 | 0.654 | 1.00 |
|
disease | 0.900 | strong | 1.000 | 22 | 131 | 1991 | 2017 | ||||||||
|
low density lipoprotein receptor | 0.449 | 0.885 | 9.8E-24 |
|
disease | 0.800 | strong | 0.977 | 51 | 128 | 1975 | 2020 | ||||||||
|
CF transmembrane conductance regulator | 0.424 | 0.885 | 2.2E-58 |
|
disease | 1.000 | None | 0.979 | 73 | 122 | 1989 | 2020 | ||||||||
|
galactosidase alpha | 0.537 | 0.769 | 1.00 |
|
disease | 1.000 | definitive | 0.992 | 43 | 117 | 1967 | 2020 | ||||||||
|
galactose-1-phosphate uridylyltransferase | 0.612 | 0.654 | 2.1E-06 |
|
disease | 0.800 | strong | 0.993 | 27 | 115 | 1970 | 2020 | ||||||||
|
myosin heavy chain 7 | 0.516 | 0.692 | 4.2E-16 |
|
disease | 0.700 | strong | 1.000 | 56 | 113 | 1961 | 2017 | ||||||||
|
ornithine carbamoyltransferase | 0.565 | 0.846 | 0.87 |
|
disease | 1.000 | definitive | 1.000 | 30 | 107 | 1976 | 2018 | ||||||||
|
presenilin 1 | 0.469 | 0.846 | 0.97 |
|
disease | 0.900 | None | 0.993 | 81 | 100 | 1995 | 2020 | ||||||||
|
mutL homolog 1 | 0.399 | 0.808 | 3.4E-05 |
|
disease | 0.710 | definitive | 1.000 | 60 | 98 | 1994 | 2017 | ||||||||
|
glucosylceramidase beta | 0.500 | 0.808 | 1.4E-06 |
|
disease | 1.000 | None | 0.984 | 48 | 95 | 1983 | 2020 | ||||||||
|
solute carrier family 12 member 3 | 0.493 | 0.808 | 3.0E-32 |
|
disease | 0.900 | strong | 1.000 | 17 | 95 | 1996 | 2020 | ||||||||
|
ryanodine receptor 1 | 0.489 | 0.808 | 1.6E-29 |
|
disease | 0.700 | strong | 1.000 | 44 | 89 | 1991 | 2017 | ||||||||
|
BRCA1 DNA repair associated | 0.367 | 0.923 | 9.2E-29 |
|
disease | 1.000 | strong | 0.956 | 22 | 88 | 1992 | 2020 | ||||||||
|
mutS homolog 2 | 0.406 | 0.808 | 0.90 |
|
disease | 0.600 | strong | 1.000 | 54 | 84 | 1993 | 2017 | ||||||||
|
NPC intracellular cholesterol transporter 1 | 0.518 | 0.692 | 6.5E-06 |
|
disease | 1.000 | strong | 0.994 | 20 | 82 | 1988 | 2020 | ||||||||
|
collagen type III alpha 1 chain | 0.477 | 0.808 | 1.00 |
|
disease | 1.000 | definitive | 1.000 | 28 | 80 | 1980 | 2019 |