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. | ||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
estrogen receptor 1 | 0.324 | 0.962 | 1.00 |
|
disease | 1.000 | None | 0.967 | 3362 | 40 | 1983 | 2020 | ||||||||
|
BRCA1 DNA repair associated | 0.367 | 0.923 | 9.2E-29 |
|
disease | 1.000 | strong | 0.956 | 2803 | 106 | 1992 | 2020 | ||||||||
|
androgen receptor | 0.351 | 0.846 | 0.99 |
|
disease | 1.000 | limited | 0.982 | 1872 | 14 | 1992 | 2020 | ||||||||
|
CF transmembrane conductance regulator | 0.424 | 0.885 | 2.2E-58 |
|
disease | 1.000 | None | 0.979 | 1864 | 104 | 1989 | 2020 | ||||||||
|
B-Raf proto-oncogene, serine/threonine kinase | 0.319 | 0.846 | 1.00 |
|
disease | 1.000 | None | 0.983 | 1590 | 14 | 1986 | 2020 | ||||||||
|
BRCA2 DNA repair associated | 0.379 | 0.846 | 2.4E-25 |
|
disease | 1.000 | strong | 0.951 | 1505 | 47 | 1994 | 2020 | ||||||||
|
huntingtin | 0.548 | 0.654 | 1.00 |
|
disease | 1.000 | limited | 0.987 | 1271 | 3 | 1993 | 2020 | ||||||||
|
tumor protein p53 | 0.236 | 0.962 | 0.53 |
|
disease | 1.000 | None | 0.973 | 1165 | 43 | 1982 | 2020 | ||||||||
|
fms related receptor tyrosine kinase 3 | 0.462 | 0.654 | 0.61 |
|
disease | 1.000 | None | 0.985 | 1058 | 10 | 1992 | 2020 | ||||||||
|
dystrophin | 0.423 | 0.923 | 1.00 |
|
disease | 1.000 | strong | 0.980 | 1038 | 1 | 1981 | 2020 | ||||||||
|
KIT proto-oncogene, receptor tyrosine kinase | 0.366 | 0.808 | 0.98 |
|
group | 1.000 | definitive | 0.951 | 810 | 15 | 1995 | 2020 | ||||||||
|
methyl-CpG binding protein 2 | 0.414 | 0.846 | 0.89 |
|
disease | 1.000 | definitive | 0.977 | 726 | 35 | 1975 | 2020 | ||||||||
|
nucleotide binding oligomerization domain containing 2 | 0.423 | 0.923 | 2.0E-30 |
|
disease | 1.000 | moderate | 0.937 | 686 | 34 | 1998 | 2019 | ||||||||
|
FMRP translational regulator 1 | 0.473 | 0.769 | 0.65 |
|
disease | 1.000 | definitive | 0.985 | 655 | 2 | 1991 | 2020 | ||||||||
|
tumor protein p53 | 0.236 | 0.962 | 0.53 |
|
disease | 1.000 | None | 0.959 | 635 | 17 | 1990 | 2020 | ||||||||
|
APC regulator of WNT signaling pathway | 0.373 | 0.962 | 1.00 |
|
disease | 1.000 | strong | 0.961 | 583 | 36 | 1989 | 2020 | ||||||||
|
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | 0.292 | 0.923 | 1.00 |
|
disease | 1.000 | None | 0.985 | 536 | 8 | 2001 | 2020 | ||||||||
|
mutS homolog 2 | 0.406 | 0.808 | 0.90 |
|
disease | 1.000 | definitive | 0.983 | 472 | 14 | 1993 | 2020 | ||||||||
|
Janus kinase 2 | 0.385 | 0.885 | 0.65 |
|
disease | 1.000 | None | 0.975 | 425 | 9 | 2005 | 2020 | ||||||||
|
neurofibromin 1 | 0.440 | 0.885 | 0.90 |
|
disease | 1.000 | None | 0.976 | 423 | 15 | 1977 | 2020 | ||||||||
|
ATM serine/threonine kinase | 0.374 | 0.885 | 5.6E-47 |
|
disease | 1.000 | None | 0.982 | 417 | 9 | 1953 | 2020 | ||||||||
|
galactosidase alpha | 0.537 | 0.769 | 1.00 |
|
disease | 1.000 | definitive | 0.992 | 414 | 35 | 1967 | 2020 | ||||||||
|
coagulation factor IX | 0.465 | 0.885 | 1.00 |
|
disease | 1.000 | definitive | 0.979 | 402 | 9 | 1976 | 2020 | ||||||||
|
fibrillin 1 | 0.417 | 0.846 | 1.00 |
|
disease | 1.000 | definitive | 0.986 | 389 | 20 | 1973 | 2020 | ||||||||
|
TSC complex subunit 2 | 0.439 | 0.808 | 1.00 |
|
disease | 1.000 | definitive | 0.980 | 384 | 23 | 1994 | 2020 |