rs121908989, PRKAG2

N. diseases: 4
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6 (disorder)
CUI: C1833236
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6 (disorder)
0.800 GeneticVariation UNIPROT Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. 27854360 2017
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6 (disorder)
CUI: C1833236
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6 (disorder)
0.800 GeneticVariation UNIPROT ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 25356965 2015
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6 (disorder)
CUI: C1833236
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6 (disorder)
0.800 GeneticVariation UNIPROT 2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC). 25173338 2014
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6 (disorder)
CUI: C1833236
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6 (disorder)
0.800 GeneticVariation UNIPROT ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 23788249 2013
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6 (disorder)
CUI: C1833236
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6 (disorder)
0.800 GeneticVariation UNIPROT Clinical utility gene card for: hypertrophic cardiomyopathy (type 1-14). 21267010 2011
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6 (disorder)
CUI: C1833236
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6 (disorder)
0.800 GeneticVariation UNIPROT Constitutively active AMP kinase mutations cause glycogen storage disease mimicking hypertrophic cardiomyopathy. 11827995 2002
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6 (disorder)
CUI: C1833236
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6 (disorder)
0.800 GeneticVariation UNIPROT Mutations in the gamma(2) subunit of AMP-activated protein kinase cause familial hypertrophic cardiomyopathy: evidence for the central role of energy compromise in disease pathogenesis. 11371514 2001
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6 (disorder)
CUI: C1833236
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6 (disorder)
0.800 CausalMutation CLINVAR
Cardiomyopathies
CUI: C0878544
Disease: Cardiomyopathies
0.010 GeneticVariation BEFREE PRKAG2 cardiomyopathy is recapitulated in transgenic mice overexpressing mutant PRKAG2 N488I in the heart (TGgamma2N488I). 16275868 2005
Hypertrophic Cardiomyopathy
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
0.010 GeneticVariation BEFREE 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
Hypertrophic obstructive cardiomyopathy
CUI: C4551472
Disease: Hypertrophic obstructive cardiomyopathy
0.010 GeneticVariation BEFREE 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