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. | ||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
fibroblast growth factor receptor 3 | 0.391 | 0.846 | 1.6E-05 |
|
disease | 1.000 | definitive | 0.974 | 5 | 0 | 1994 | 2020 | ||||||||
|
homogentisate 1,2-dioxygenase | 0.631 | 0.577 | 3.0E-08 |
|
disease | 1.000 | definitive | 0.982 | 6 | 0 | 1955 | 2019 | ||||||||
|
galactosidase alpha | 0.537 | 0.769 | 1.00 |
|
disease | 1.000 | definitive | 0.992 | 7 | 0 | 1967 | 2020 | ||||||||
|
myosin IXA | 0.647 | 0.500 | 0.49 |
|
disease | 0.600 | limited | 1.000 | 4 | 0 | 1998 | 2016 | ||||||||
|
VPS8 subunit of CORVET complex | 1.000 | 0.077 | 5.1E-08 |
|
disease | 0.500 | limited | 1.000 | 3 | 0 | 1996 | 2016 | ||||||||
|
patched 1 | 0.398 | 0.885 | 1.00 |
|
disease | 1.000 | definitive | 0.994 | 9 | 0 | 1960 | 2020 | ||||||||
|
patched 2 | 0.563 | 0.692 | 3.4E-16 |
|
disease | 0.770 | limited | 1.000 | 5 | 0 | 1985 | 2017 | ||||||||
|
glycoprotein IX platelet | 0.695 | 0.500 | 0.48 |
|
disease | 0.800 | definitive | 0.981 | 15 | 0 | 1983 | 2019 | ||||||||
|
glycoprotein Ib platelet subunit beta | 0.524 | 0.769 | 0.51 |
|
disease | 1.000 | definitive | 1.000 | 12 | 0 | 1988 | 2019 | ||||||||
|
BLM RecQ like helicase | 0.535 | 0.808 | 1.5E-15 |
|
disease | 1.000 | definitive | 0.994 | 5 | 0 | 1994 | 2020 | ||||||||
|
myosin light chain 3 | 0.695 | 0.308 | 8.8E-02 |
|
disease | 0.480 | definitive | 0.970 | 19 | 0 | 1993 | 2018 | ||||||||
|
tropomyosin 1 | 0.560 | 0.615 | 1.0E-03 |
|
disease | 0.500 | definitive | 0.986 | 18 | 0 | 1993 | 2019 | ||||||||
|
protein kinase AMP-activated non-catalytic subunit gamma 2 | 0.582 | 0.654 | 1.00 |
|
disease | 0.500 | definitive | 1.000 | 15 | 0 | 1995 | 2019 | ||||||||
|
troponin I3, cardiac type | 0.520 | 0.769 | 9.6E-02 |
|
disease | 0.700 | definitive | 0.991 | 14 | 0 | 1988 | 2019 | ||||||||
|
myosin heavy chain 7 | 0.516 | 0.692 | 4.2E-16 |
|
disease | 0.800 | definitive | 0.988 | 13 | 0 | 1990 | 2019 | ||||||||
|
troponin C1, slow skeletal and cardiac type | 0.647 | 0.462 | 0.68 |
|
disease | 0.500 | moderate | 0.963 | 12 | 0 | 1997 | 2019 | ||||||||
|
actin alpha cardiac muscle 1 | 0.610 | 0.538 | 0.74 |
|
disease | 0.700 | definitive | 0.962 | 11 | 0 | 1999 | 2019 | ||||||||
|
troponin T2, cardiac type | 0.601 | 0.423 | 2.0E-03 |
|
disease | 0.800 | definitive | 0.982 | 11 | 0 | 1991 | 2018 | ||||||||
|
titin | 0.470 | 0.885 | 2.6E-96 |
|
disease | 0.500 | limited | 1.000 | 9 | 0 | 1996 | 2019 | ||||||||
|
myosin light chain kinase 2 | 0.705 | 0.269 | 0.23 |
|
disease | 0.300 | limited | 1.000 | 7 | 0 | 2000 | 2017 | ||||||||
|
Kruppel like factor 10 | 0.631 | 0.615 | 4.6E-03 |
|
disease | 0.510 | limited | 1.000 | 6 | 0 | 1995 | 2017 | ||||||||
|
myosin heavy chain 6 | 0.581 | 0.615 | 1.6E-32 |
|
disease | 0.660 | limited | 1.000 | 5 | 0 | 1984 | 2019 | ||||||||
|
myozenin 2 | 0.716 | 0.308 | 1.6E-03 |
|
disease | 0.340 | limited | 1.000 | 4 | 0 | 2000 | 2017 | ||||||||
|
alpha kinase 3 | 0.792 | 0.462 | 8.4E-25 |
|
disease | 0.400 | strong | 1.000 | 4 | 0 | 2001 | 2016 | ||||||||
|
obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF | 0.736 | 0.538 | 1.9E-164 |
|
disease | 0.320 | limited | 1.000 | 4 | 0 | 2001 | 2019 |