| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
T | 0.700 | GeneticVariation | CLINVAR | Clinical Spectrum of PRKAG2 Syndrome. | 26729852 | 2016 |
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T | 0.700 | GeneticVariation | CLINVAR | Transgenic knockdown of cardiac sodium/glucose cotransporter 1 (SGLT1) attenuates PRKAG2 cardiomyopathy, whereas transgenic overexpression of cardiac SGLT1 causes pathologic hypertrophy and dysfunction in mice. | 25092788 | 2014 |
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T | 0.700 | GeneticVariation | CLINVAR | SGLT1, a novel cardiac glucose transporter, mediates increased glucose uptake in PRKAG2 cardiomyopathy. | 20600102 | 2010 |
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T | 0.700 | GeneticVariation | CLINVAR | Activation of cardiac hypertrophic signaling pathways in a transgenic mouse with the human PRKAG2 Thr400Asn mutation. | 20005292 | 2010 |
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T | 0.700 | GeneticVariation | CLINVAR | A PRKAG2 mutation causes biphasic changes in myocardial AMPK activity and does not protect against ischemia. | 17597581 | 2007 |
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T | 0.700 | GeneticVariation | CLINVAR | A new mutation in PRKAG2 gene causing hypertrophic cardiomyopathy with conduction system disease and muscular glycogenosis. | 16487706 | 2006 |
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T | 0.700 | GeneticVariation | CLINVAR | CBS domains form energy-sensing modules whose binding of adenosine ligands is disrupted by disease mutations. | 14722619 | 2004 |
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T | 0.700 | GeneticVariation | CLINVAR | Although the cardiac pathology caused by PRKAG2 mutations Arg302Gln, Thr400Asn, and Asn488Ile include myocyte enlargement and minimal interstitial fibrosis, these mutations were not associated with myocyte and myofibrillar disarray, the pathognomonic features of hypertrophic cardiomyopathy caused by sarcomere protein mutations. | 11827995 | 2002 |