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. | ||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
CF transmembrane conductance regulator | 0.424 | 0.885 | 2.2E-58 |
|
disease | 1.000 | None | 0.979 | 78 | 0 | 1989 | 2020 | ||||||||
|
nucleotide binding oligomerization domain containing 2 | 0.423 | 0.923 | 2.0E-30 |
|
disease | 1.000 | moderate | 0.937 | 60 | 0 | 1998 | 2019 | ||||||||
|
B-Raf proto-oncogene, serine/threonine kinase | 0.319 | 0.846 | 1.00 |
|
disease | 1.000 | None | 0.983 | 55 | 0 | 1986 | 2020 | ||||||||
|
APC regulator of WNT signaling pathway | 0.373 | 0.962 | 1.00 |
|
disease | 1.000 | strong | 0.961 | 48 | 0 | 1989 | 2020 | ||||||||
|
methyl-CpG binding protein 2 | 0.414 | 0.846 | 0.89 |
|
disease | 1.000 | definitive | 0.977 | 43 | 0 | 1975 | 2020 | ||||||||
|
Janus kinase 2 | 0.385 | 0.885 | 0.65 |
|
disease | 1.000 | None | 0.975 | 39 | 0 | 2005 | 2020 | ||||||||
|
fms related receptor tyrosine kinase 3 | 0.462 | 0.654 | 0.61 |
|
disease | 1.000 | None | 0.985 | 36 | 0 | 1992 | 2020 | ||||||||
|
KIT proto-oncogene, receptor tyrosine kinase | 0.366 | 0.808 | 0.98 |
|
group | 1.000 | definitive | 0.951 | 30 | 0 | 1995 | 2020 | ||||||||
|
tumor protein p53 | 0.236 | 0.962 | 0.53 |
|
disease | 1.000 | None | 0.959 | 27 | 0 | 1990 | 2020 | ||||||||
|
coagulation factor VIII | 0.542 | 0.769 | 1.00 |
|
disease | 1.000 | definitive | 0.983 | 23 | 0 | 1977 | 2020 | ||||||||
|
glial fibrillary acidic protein | 0.421 | 0.885 | 1.5E-06 |
|
disease | 1.000 | None | 0.972 | 23 | 0 | 1976 | 2020 | ||||||||
|
ATPase copper transporting beta | 0.529 | 0.654 | 4.8E-30 |
|
disease | 1.000 | definitive | 0.980 | 23 | 0 | 1983 | 2020 | ||||||||
|
prion protein | 0.445 | 0.923 | 6.3E-04 |
|
disease | 1.000 | strong | 0.980 | 23 | 0 | 1988 | 2020 | ||||||||
|
sodium voltage-gated channel alpha subunit 5 | 0.513 | 0.654 | 0.91 |
|
disease | 1.000 | definitive | 0.984 | 23 | 0 | 1995 | 2020 | ||||||||
|
Janus kinase 2 | 0.385 | 0.885 | 0.65 |
|
disease | 1.000 | None | 0.968 | 22 | 0 | 2005 | 2020 | ||||||||
|
dystrophin | 0.423 | 0.923 | 1.00 |
|
disease | 1.000 | strong | 0.980 | 21 | 0 | 1981 | 2020 | ||||||||
|
huntingtin | 0.548 | 0.654 | 1.00 |
|
disease | 1.000 | limited | 0.987 | 21 | 0 | 1993 | 2020 | ||||||||
|
fibrillin 1 | 0.417 | 0.846 | 1.00 |
|
disease | 1.000 | definitive | 0.986 | 20 | 0 | 1973 | 2020 | ||||||||
|
ATM serine/threonine kinase | 0.374 | 0.885 | 5.6E-47 |
|
disease | 1.000 | None | 0.982 | 20 | 0 | 1953 | 2020 | ||||||||
|
WASP actin nucleation promoting factor | 0.529 | 0.808 | 1.00 |
|
disease | 1.000 | definitive | 0.987 | 20 | 0 | 1994 | 2020 | ||||||||
|
androgen receptor | 0.351 | 0.846 | 0.99 |
|
disease | 1.000 | None | 0.966 | 19 | 0 | 1970 | 2019 | ||||||||
|
ATP binding cassette subfamily C member 6 | 0.540 | 0.654 | 5.6E-35 |
|
disease | 1.000 | None | 0.982 | 18 | 0 | 1978 | 2020 | ||||||||
|
TSC complex subunit 2 | 0.439 | 0.808 | 1.00 |
|
disease | 1.000 | definitive | 0.980 | 18 | 0 | 1994 | 2020 | ||||||||
|
protein tyrosine phosphatase non-receptor type 11 | 0.385 | 0.923 | 1.00 |
|
disease | 1.000 | definitive | 0.987 | 17 | 0 | 2001 | 2020 | ||||||||
|
FMRP translational regulator 1 | 0.473 | 0.769 | 0.65 |
|
disease | 1.000 | definitive | 0.985 | 16 | 0 | 1991 | 2020 |