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 | 0.900 | None | 0.977 | 199 | 497 | 1975 | 2020 | ||||||||
|
myosin heavy chain 7 | 0.516 | 0.692 | 4.2E-16 |
|
disease | 0.700 | strong | 1.000 | 198 | 78 | 1961 | 2017 | ||||||||
|
myosin binding protein C3 | 0.593 | 0.385 | 8.0E-11 |
|
disease | 0.700 | strong | 0.990 | 191 | 230 | 1986 | 2020 | ||||||||
|
mutS homolog 6 | 0.462 | 0.731 | 3.7E-05 |
|
group | 0.110 | None | 1.000 | 190 | 331 | 1994 | 2018 | ||||||||
|
F-box protein 11 | 0.604 | 0.692 | 1.00 |
|
group | 0.100 | None | 1.000 | 187 | 321 | 1994 | 2017 | ||||||||
|
neurofibromin 1 | 0.440 | 0.885 | 0.90 |
|
disease | 1.000 | None | 0.976 | 185 | 764 | 1977 | 2020 | ||||||||
|
low density lipoprotein receptor | 0.449 | 0.885 | 9.8E-24 |
|
disease | 0.200 | None | 0.992 | 182 | 54 | 1975 | 2020 | ||||||||
|
chromosome 11 open reading frame 65 | 0.670 | 0.462 | 2.0E-14 |
|
disease | 0.100 | None | 1.000 | 180 | 253 | 1953 | 2018 | ||||||||
|
fibrillin 1 | 0.417 | 0.846 | 1.00 |
|
disease | 1.000 | definitive | 0.986 | 179 | 986 | 1973 | 2020 | ||||||||
|
mutS homolog 2 | 0.406 | 0.808 | 0.90 |
|
disease | 1.000 | definitive | 0.983 | 179 | 459 | 1993 | 2020 | ||||||||
|
von Hippel-Lindau tumor suppressor | 0.443 | 0.846 | 8.0E-02 |
|
group | 0.180 | None | 1.000 | 165 | 59 | 1994 | 2017 | ||||||||
|
APC regulator of WNT signaling pathway | 0.373 | 0.962 | 1.00 |
|
disease | 0.400 | None | 1.000 | 163 | 332 | 1991 | 2017 | ||||||||
|
galactosidase alpha | 0.537 | 0.769 | 1.00 |
|
disease | 1.000 | definitive | 0.992 | 162 | 135 | 1967 | 2020 | ||||||||
|
sodium voltage-gated channel alpha subunit 5 | 0.513 | 0.654 | 0.91 |
|
disease | 1.000 | definitive | 0.984 | 162 | 101 | 1995 | 2020 | ||||||||
|
RPL36A-HNRNPH2 readthrough | 0.861 | 0.154 | 0.36 |
|
disease | 0.100 | None | 1.000 | 162 | 135 | 1989 | 2018 | ||||||||
|
protein tyrosine phosphatase non-receptor type 11 | 0.385 | 0.923 | 1.00 |
|
disease | 1.000 | definitive | 0.987 | 161 | 53 | 2001 | 2020 | ||||||||
|
APC regulator of WNT signaling pathway | 0.373 | 0.962 | 1.00 |
|
group | 0.110 | None | 1.000 | 159 | 257 | 1991 | 2017 | ||||||||
|
chromosome 11 open reading frame 65 | 0.670 | 0.462 | 2.0E-14 |
|
group | 0.100 | None | 1.000 | 159 | 220 | 1996 | 2018 | ||||||||
|
solute carrier family 26 member 4 | 0.507 | 0.885 | 9.0E-22 |
|
disease | 1.000 | definitive | 1.000 | 156 | 128 | 1996 | 2019 | ||||||||
|
fibrillin 1 | 0.417 | 0.846 | 1.00 |
|
disease | 0.600 | definitive | 1.000 | 155 | 361 | 1973 | 2019 | ||||||||
|
lamin A/C | 0.384 | 0.885 | 1.00 |
|
disease | 0.100 | None | 1.000 | 154 | 87 | 1990 | 2018 | ||||||||
|
potassium voltage-gated channel subfamily Q member 1 | 0.485 | 0.769 | 4.5E-08 |
|
disease | 0.700 | None | 0.980 | 152 | 102 | 1993 | 2020 | ||||||||
|
phosphatase and tensin homolog | 0.305 | 0.923 | 0.26 |
|
group | 0.160 | None | 1.000 | 148 | 183 | 1997 | 2018 | ||||||||
|
myosin binding protein C3 | 0.593 | 0.385 | 8.0E-11 |
|
disease | 0.500 | None | 1.000 | 147 | 172 | 1989 | 2019 | ||||||||
|
transthyretin | 0.423 | 0.885 | 0.52 |
|
disease | 1.000 | None | 0.992 | 142 | 43 | 1983 | 2020 |