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 | 0.800 | definitive | 0.988 | 272 | 129 | 1990 | 2019 | ||||||||
|
troponin T2, cardiac type | 0.601 | 0.423 | 2.0E-03 |
|
disease | 0.800 | definitive | 0.982 | 86 | 19 | 1991 | 2018 | ||||||||
|
myosin binding protein C3 | 0.593 | 0.385 | 8.0E-11 |
|
disease | 0.700 | strong | 0.990 | 191 | 230 | 1986 | 2020 | ||||||||
|
troponin I3, cardiac type | 0.520 | 0.769 | 9.6E-02 |
|
disease | 0.700 | definitive | 0.991 | 76 | 19 | 1988 | 2019 | ||||||||
|
actin alpha cardiac muscle 1 | 0.610 | 0.538 | 0.74 |
|
disease | 0.700 | definitive | 0.962 | 12 | 3 | 1999 | 2019 | ||||||||
|
tripartite motif containing 63 | 0.617 | 0.538 | 4.3E-13 |
|
disease | 0.640 | limited | 0.857 | 0 | 1 | 2001 | 2019 | ||||||||
|
tropomyosin 1 | 0.560 | 0.615 | 1.0E-03 |
|
disease | 0.500 | definitive | 0.986 | 34 | 12 | 1993 | 2019 | ||||||||
|
myosin light chain 2 | 0.601 | 0.615 | 2.7E-08 |
|
disease | 0.500 | None | 0.971 | 25 | 10 | 1996 | 2019 | ||||||||
|
protein kinase AMP-activated non-catalytic subunit gamma 2 | 0.582 | 0.654 | 1.00 |
|
disease | 0.500 | definitive | 1.000 | 23 | 8 | 1995 | 2019 | ||||||||
|
troponin C1, slow skeletal and cardiac type | 0.647 | 0.462 | 0.68 |
|
disease | 0.500 | moderate | 0.963 | 11 | 2 | 1997 | 2019 | ||||||||
|
Raf-1 proto-oncogene, serine/threonine kinase | 0.418 | 0.885 | 0.85 |
|
disease | 0.500 | None | 1.000 | 2 | 1 | 2007 | 2019 | ||||||||
|
myosin light chain 3 | 0.695 | 0.308 | 8.8E-02 |
|
disease | 0.480 | definitive | 0.970 | 11 | 4 | 1993 | 2018 | ||||||||
|
protein tyrosine phosphatase non-receptor type 11 | 0.385 | 0.923 | 1.00 |
|
disease | 0.400 | None | 1.000 | 39 | 2 | 2002 | 2019 | ||||||||
|
lysosomal associated membrane protein 2 | 0.552 | 0.731 | 0.27 |
|
disease | 0.400 | None | 1.000 | 8 | 9 | 2005 | 2019 | ||||||||
|
alpha kinase 3 | 0.792 | 0.462 | 8.4E-25 |
|
disease | 0.400 | strong | 1.000 | 3 | 2 | 2001 | 2016 | ||||||||
|
glucosidase alpha, acid | 0.631 | 0.577 | 2.8E-18 |
|
disease | 0.400 | None | 1.000 | 1 | 1 | 2001 | 2015 | ||||||||
|
solute carrier family 25 member 4 | 0.568 | 0.692 | 0.45 |
|
disease | 0.400 | strong | 1.000 | 0 | 1 | 2016 | 2017 | ||||||||
|
galactosidase alpha | 0.537 | 0.769 | 1.00 |
|
disease | 0.200 | None | 1.000 | 26 | 3 | 1991 | 2019 | ||||||||
|
phospholamban | 0.595 | 0.577 | 0.45 |
|
disease | 0.180 | None | 0.917 | 6 | 1 | 2003 | 2019 | ||||||||
|
actinin alpha 2 | 0.686 | 0.462 | 1.00 |
|
disease | 0.140 | None | 1.000 | 1 | 1 | 2006 | 2019 | ||||||||
|
Ras like without CAAX 1 | 0.527 | 0.808 | 0.13 |
|
disease | 0.130 | None | 1.000 | 0 | 2 | 2016 | 2019 | ||||||||
|
HRas proto-oncogene, GTPase | 0.378 | 0.885 | 8.0E-02 |
|
disease | 0.120 | None | 1.000 | 9 | 1 | 2005 | 2017 | ||||||||
|
B-Raf proto-oncogene, serine/threonine kinase | 0.319 | 0.846 | 1.00 |
|
disease | 0.120 | None | 1.000 | 2 | 2 | 2006 | 2016 | ||||||||
|
desmoglein 2 | 0.601 | 0.692 | 2.8E-10 |
|
disease | 0.110 | None | 1.000 | 0 | 1 | 2020 | 2020 | ||||||||
|
RPL36A-HNRNPH2 readthrough | 0.861 | 0.154 | 0.36 |
|
disease | 0.100 | None | 1.000 | 26 | 3 | 1993 | 2017 |