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. | ||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
lamin A/C | 0.384 | 0.885 | 1.00 |
|
disease | 1.000 | None | 0.967 | 213 | 34 | 2003 | 2020 | ||||||||
|
autoimmune regulator | 0.516 | 0.808 | 4.0E-12 |
|
disease | 1.000 | None | 0.985 | 204 | 75 | 1991 | 2020 | ||||||||
|
CCAAT enhancer binding protein alpha | 0.496 | 0.692 | 0.55 |
|
disease | 1.000 | definitive | 0.985 | 197 | 16 | 1992 | 2020 | ||||||||
|
proteolipid protein 1 | 0.543 | 0.769 | 0.93 |
|
disease | 1.000 | definitive | 0.979 | 189 | 28 | 1962 | 2019 | ||||||||
|
ATP binding cassette subfamily A member 4 | 0.493 | 0.769 | 5.3E-48 |
|
phenotype | 1.000 | limited | 0.995 | 189 | 20 | 1997 | 2020 | ||||||||
|
paired box 6 | 0.450 | 0.769 | 1.00 |
|
disease | 1.000 | None | 0.984 | 188 | 24 | 1978 | 2020 | ||||||||
|
ryanodine receptor 2 | 0.539 | 0.615 | 1.00 |
|
disease | 1.000 | None | 0.995 | 187 | 81 | 2001 | 2020 | ||||||||
|
ATP binding cassette subfamily A member 4 | 0.493 | 0.769 | 5.3E-48 |
|
disease | 1.000 | None | 0.978 | 181 | 308 | 1997 | 2020 | ||||||||
|
NPC intracellular cholesterol transporter 1 | 0.518 | 0.692 | 6.5E-06 |
|
disease | 1.000 | strong | 0.994 | 180 | 192 | 1988 | 2020 | ||||||||
|
ubiquitin protein ligase E3A | 0.561 | 0.692 | 1.00 |
|
disease | 1.000 | definitive | 0.967 | 180 | 122 | 1997 | 2020 | ||||||||
|
glial fibrillary acidic protein | 0.421 | 0.885 | 1.5E-06 |
|
disease | 1.000 | None | 0.972 | 179 | 93 | 1976 | 2020 | ||||||||
|
peroxisome proliferator activated receptor gamma | 0.358 | 0.885 | 2.9E-02 |
|
disease | 1.000 | None | 0.960 | 174 | 9 | 1997 | 2020 | ||||||||
|
hydroxymethylbilane synthase | 0.559 | 0.731 | 0.95 |
|
disease | 1.000 | strong | 0.983 | 173 | 60 | 1974 | 2020 | ||||||||
|
iduronate 2-sulfatase | 0.559 | 0.769 | 0.95 |
|
disease | 1.000 | definitive | 0.994 | 172 | 68 | 1991 | 2019 | ||||||||
|
patched 1 | 0.398 | 0.885 | 1.00 |
|
disease | 1.000 | definitive | 0.994 | 170 | 109 | 1960 | 2020 | ||||||||
|
WRN RecQ like helicase | 0.524 | 0.808 | 2.6E-34 |
|
disease | 1.000 | definitive | 0.952 | 166 | 63 | 1993 | 2019 | ||||||||
|
calpain 3 | 0.564 | 0.615 | 3.6E-19 |
|
disease | 1.000 | strong | 0.994 | 166 | 146 | 1995 | 2019 | ||||||||
|
ATP binding cassette subfamily C member 6 | 0.540 | 0.654 | 5.6E-35 |
|
disease | 1.000 | None | 0.982 | 165 | 314 | 1978 | 2020 | ||||||||
|
BLM RecQ like helicase | 0.535 | 0.808 | 1.5E-15 |
|
disease | 1.000 | definitive | 0.994 | 159 | 128 | 1994 | 2020 | ||||||||
|
nibrin | 0.467 | 0.808 | 2.2E-16 |
|
disease | 1.000 | definitive | 0.981 | 159 | 131 | 1985 | 2019 | ||||||||
|
parkin RBR E3 ubiquitin protein ligase | 0.431 | 0.846 | 6.9E-07 |
|
disease | 1.000 | None | 0.994 | 157 | 29 | 1998 | 2019 | ||||||||
|
chromodomain helicase DNA binding protein 7 | 0.441 | 0.846 | 1.00 |
|
disease | 1.000 | definitive | 0.981 | 157 | 204 | 2004 | 2020 | ||||||||
|
WASP actin nucleation promoting factor | 0.529 | 0.808 | 1.00 |
|
disease | 1.000 | definitive | 0.987 | 156 | 30 | 1994 | 2020 | ||||||||
|
CLN3 lysosomal/endosomal transmembrane protein, battenin | 0.572 | 0.692 | 1.3E-07 |
|
disease | 1.000 | None | 0.994 | 156 | 72 | 1990 | 2019 | ||||||||
|
tumor protein p53 | 0.236 | 0.962 | 0.53 |
|
group | 1.000 | strong | 0.955 | 156 | 8 | 1987 | 2020 |