rs121908987, PRKAG2

N. diseases: 12
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 CausalMutation CLINVAR CRISPR correction of the PRKAG2 gene mutation in the patient's induced pluripotent stem cell-derived cardiomyocytes eliminates electrophysiological and structural abnormalities. 28917552 2018
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 CausalMutation CLINVAR Transgenic mouse model of ventricular preexcitation and atrioventricular reentrant tachycardia induced by an AMP-activated protein kinase loss-of-function mutation responsible for Wolff-Parkinson-White syndrome. 15611370 2005
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6 (disorder)
CUI: C1833236
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6 (disorder)
0.800 CausalMutation CLINVAR CBS domains form energy-sensing modules whose binding of adenosine ligands is disrupted by disease mutations. 14722619 2004
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6 (disorder)
CUI: C1833236
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6 (disorder)
0.800 CausalMutation CLINVAR 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 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 CausalMutation CLINVAR Identification of a gene responsible for familial Wolff-Parkinson-White syndrome. 11407343 2001
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