Source: CLINVAR
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. | ||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
myosin heavy chain 7 | 0.516 | 0.692 | 4.2E-16 |
|
disease | 0.500 | None | 0.992 | 230 | 94 | 1985 | 2019 | ||||||||
|
myosin binding protein C3 | 0.593 | 0.385 | 8.0E-11 |
|
disease | 0.500 | None | 1.000 | 147 | 172 | 1989 | 2019 | ||||||||
|
troponin I3, cardiac type | 0.520 | 0.769 | 9.6E-02 |
|
disease | 0.500 | None | 1.000 | 59 | 18 | 1997 | 2017 | ||||||||
|
tropomyosin 1 | 0.560 | 0.615 | 1.0E-03 |
|
disease | 0.500 | None | 1.000 | 38 | 7 | 1994 | 2017 | ||||||||
|
troponin T2, cardiac type | 0.601 | 0.423 | 2.0E-03 |
|
disease | 0.500 | None | 1.000 | 6 | 7 | 1996 | 2006 | ||||||||
|
myosin light chain 3 | 0.695 | 0.308 | 8.8E-02 |
|
disease | 0.110 | None | 1.000 | 5 | 5 | 2001 | 2017 | ||||||||
|
lamin A/C | 0.384 | 0.885 | 1.00 |
|
disease | 0.100 | None | 1.000 | 3 | 2 | 2006 | 2014 | ||||||||
|
Raf-1 proto-oncogene, serine/threonine kinase | 0.418 | 0.885 | 0.85 |
|
disease | 0.100 | None | 1.000 | 2 | 3 | 2007 | 2007 | ||||||||
|
protein kinase AMP-activated non-catalytic subunit gamma 2 | 0.582 | 0.654 | 1.00 |
|
disease | 0.120 | None | 1.000 | 0 | 2 | 2001 | 2003 | ||||||||
|
phospholamban | 0.595 | 0.577 | 0.45 |
|
disease | 0.110 | None | 1.000 | 0 | 1 | 2003 | 2003 | ||||||||
|
junctophilin 2 | 0.736 | 0.154 | 4.5E-05 |
|
disease | 0.300 | None | 1.000 | 0 | 1 | 2010 | 2010 | ||||||||
|
actin alpha cardiac muscle 1 | 0.610 | 0.538 | 0.74 |
|
disease | 0.130 | None | 1.000 | 0 | 2 | 1999 | 2018 | ||||||||
|
myosin light chain 2 | 0.601 | 0.615 | 2.7E-08 |
|
disease | 0.430 | None | 1.000 | 0 | 5 | 1997 | 2019 | ||||||||
|
RPL36A-HNRNPH2 readthrough | 0.861 | 0.154 | 0.36 |
|
disease | 0.100 | None | 0 | 2 | |||||||||||
|
desmin | 0.460 | 0.846 | 8.8E-03 |
|
disease | 0.100 | None | 0 | 1 | |||||||||||
|
four and a half LIM domains 1 | 0.532 | 0.731 | 0.97 |
|
disease | 0.100 | None | 0 | 1 | |||||||||||
|
filamin C | 0.568 | 0.615 | 1.00 |
|
disease | 0.110 | None | 1.000 | 0 | 1 | 2014 | 2014 | ||||||||
|
galactosidase alpha | 0.537 | 0.769 | 1.00 |
|
disease | 0.100 | None | 0 | 2 | |||||||||||
|
potassium voltage-gated channel subfamily H member 2 | 0.522 | 0.731 | 1.00 |
|
disease | 0.100 | None | 0 | 1 | |||||||||||
|
centrosomal protein 85 like | 0.656 | 0.423 | 4.5E-09 |
|
disease | 0.100 | None | 0 | 1 | |||||||||||
|
lysosomal associated membrane protein 2 | 0.552 | 0.731 | 0.27 |
|
disease | 0.310 | None | 1.000 | 0 | 1 | 2018 | 2019 | ||||||||
|
tRNA | 1.000 | 0.077 |
|
disease | 0.100 | None | 0 | 1 | ||||||||||||
|
tRNA | 0.743 | 0.385 |
|
disease | 0.100 | None | 0 | 2 | ||||||||||||
|
titin-cap | 0.682 | 0.538 | 0.19 |
|
disease | 0.100 | None | 0 | 3 |