rs121908989, PRKAG2

N. diseases: 4
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6 (disorder) ×
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