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. | ||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
coagulation factor VIII | 0.542 | 0.769 | 1.00 |
|
disease | 1.000 | definitive | 0.983 | 91 | 263 | 1977 | 2020 | ||||||||
|
fibrillin 1 | 0.417 | 0.846 | 1.00 |
|
disease | 1.000 | definitive | 0.986 | 60 | 991 | 1973 | 2020 | ||||||||
|
sodium voltage-gated channel alpha subunit 1 | 0.477 | 0.808 | 1.00 |
|
disease | 0.800 | None | 1.000 | 46 | 390 | 2000 | 2018 | ||||||||
|
collagen type III alpha 1 chain | 0.477 | 0.808 | 1.00 |
|
disease | 1.000 | definitive | 1.000 | 43 | 390 | 1980 | 2019 | ||||||||
|
polycystin 1, transient receptor potential channel interacting | 0.493 | 0.769 | 1.00 |
|
disease | 1.000 | definitive | 0.986 | 43 | 133 | 1992 | 2018 | ||||||||
|
collagen type I alpha 1 chain | 0.430 | 0.808 | 1.00 |
|
disease | 0.890 | None | 1.000 | 38 | 61 | 1986 | 2019 | ||||||||
|
sodium voltage-gated channel alpha subunit 1 | 0.477 | 0.808 | 1.00 |
|
disease | 0.730 | None | 1.000 | 32 | 58 | 2000 | 2012 | ||||||||
|
neurofibromin 2 | 0.468 | 0.885 | 1.00 |
|
disease | 1.000 | definitive | 0.987 | 28 | 46 | 1991 | 2020 | ||||||||
|
sodium voltage-gated channel alpha subunit 2 | 0.518 | 0.731 | 1.00 |
|
disease | 0.700 | None | 1.000 | 28 | 65 | 2004 | 2019 | ||||||||
|
L1 cell adhesion molecule | 0.475 | 0.769 | 1.00 |
|
disease | 1.000 | None | 0.984 | 27 | 18 | 1986 | 2020 | ||||||||
|
myosin heavy chain 9 | 0.505 | 0.808 | 1.00 |
|
phenotype | 1.000 | definitive | 1.000 | 25 | 17 | 1998 | 2020 | ||||||||
|
collagen type IV alpha 5 chain | 0.553 | 0.654 | 1.00 |
|
disease | 0.900 | strong | 1.000 | 24 | 450 | 1991 | 2017 | ||||||||
|
APC regulator of WNT signaling pathway | 0.373 | 0.962 | 1.00 |
|
disease | 1.000 | strong | 0.961 | 24 | 160 | 1989 | 2020 | ||||||||
|
L1 cell adhesion molecule | 0.475 | 0.769 | 1.00 |
|
disease | 1.000 | definitive | 1.000 | 24 | 12 | 1986 | 2019 | ||||||||
|
chromodomain helicase DNA binding protein 7 | 0.441 | 0.846 | 1.00 |
|
disease | 1.000 | definitive | 0.981 | 24 | 204 | 2004 | 2020 | ||||||||
|
patched 1 | 0.398 | 0.885 | 1.00 |
|
disease | 1.000 | definitive | 0.994 | 23 | 104 | 1960 | 2020 | ||||||||
|
ret proto-oncogene | 0.392 | 0.885 | 1.00 |
|
disease | 0.800 | None | 0.960 | 23 | 24 | 1993 | 2019 | ||||||||
|
TSC complex subunit 2 | 0.439 | 0.808 | 1.00 |
|
disease | 0.800 | None | 0.992 | 21 | 250 | 1995 | 2019 | ||||||||
|
calcium voltage-gated channel subunit alpha1 A | 0.489 | 0.769 | 1.00 |
|
disease | 1.000 | None | 0.988 | 21 | 60 | 1996 | 2019 | ||||||||
|
nuclear receptor binding SET domain protein 1 | 0.505 | 0.769 | 1.00 |
|
disease | 0.700 | definitive | 0.987 | 20 | 0 | 2002 | 2019 | ||||||||
|
jagged canonical Notch ligand 1 | 0.429 | 0.808 | 1.00 |
|
disease | 0.710 | None | 1.000 | 19 | 48 | 1997 | 2016 | ||||||||
|
TSC complex subunit 1 | 0.440 | 0.808 | 1.00 |
|
disease | 0.690 | definitive | 1.000 | 19 | 128 | 1996 | 2019 | ||||||||
|
collagen type IV alpha 1 chain | 0.484 | 0.731 | 1.00 |
|
disease | 0.900 | None | 1.000 | 18 | 15 | 1977 | 2018 | ||||||||
|
dystrophin | 0.423 | 0.923 | 1.00 |
|
disease | 1.000 | strong | 0.980 | 18 | 151 | 1981 | 2020 | ||||||||
|
lysine methyltransferase 2D | 0.465 | 0.808 | 1.00 |
|
disease | 1.000 | None | 0.989 | 18 | 250 | 1997 | 2020 |