Source: CLINGEN

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4633
Gene Symbol: MYL2
MYL2
CUI: C1834460
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10 		0.700 Biomarker CLINGEN Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257

2017
Entrez Id: 4633
Gene Symbol: MYL2
MYL2
CUI: C1834460
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10 		0.700 Biomarker CLINGEN Molecular and Functional Effects of a Splice Site Mutation in the MYL2 Gene Associated with Cardioskeletal Myopathy and Early Cardiac Death in Infants. 27378946

2016
Entrez Id: 4633
Gene Symbol: MYL2
MYL2
CUI: C1834460
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10 		0.700 Biomarker CLINGEN Hypertrophic remodelling in cardiac regulatory myosin light chain (MYL2) founder mutation carriers. 26497160

2016
Entrez Id: 4633
Gene Symbol: MYL2
MYL2
CUI: C1834460
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10 		0.700 Biomarker CLINGEN Novel genotype-phenotype associations demonstrated by high-throughput sequencing in patients with hypertrophic cardiomyopathy. 25351510

2015
Entrez Id: 4633
Gene Symbol: MYL2
MYL2
CUI: C1834460
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10 		0.700 Biomarker CLINGEN Genetics of hypertrophic cardiomyopathy in Norway. 24111713

2014
Entrez Id: 4633
Gene Symbol: MYL2
MYL2
CUI: C1834460
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10 		0.700 Biomarker CLINGEN Genetic basis of end-stage hypertrophic cardiomyopathy. 21896538

2011
Entrez Id: 4633
Gene Symbol: MYL2
MYL2
CUI: C1834460
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10 		0.700 Biomarker CLINGEN Malignant familial hypertrophic cardiomyopathy D166V mutation in the ventricular myosin regulatory light chain causes profound effects in skinned and intact papillary muscle fibers from transgenic mice. 18987303

2009
Entrez Id: 4633
Gene Symbol: MYL2
MYL2
CUI: C1834460
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10 		0.700 Biomarker CLINGEN Prolonged Ca2+ and force transients in myosin RLC transgenic mouse fibers expressing malignant and benign FHC mutations. 16837010

2006
Entrez Id: 4633
Gene Symbol: MYL2
MYL2
CUI: C1834460
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10 		0.700 Biomarker CLINGEN Fine-tuning in Ca2+ homeostasis underlies progression of cardiomyopathy in myocytes derived from genetically modified embryonic stem cells. 15829506

2005
Entrez Id: 4633
Gene Symbol: MYL2
MYL2
CUI: C1834460
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10 		0.700 Biomarker CLINGEN The E22K mutation of myosin RLC that causes familial hypertrophic cardiomyopathy increases calcium sensitivity of force and ATPase in transgenic mice. 16076902

2005
Entrez Id: 4633
Gene Symbol: MYL2
MYL2
CUI: C1834460
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10 		0.700 Biomarker CLINGEN Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy. 12707239

2003
Entrez Id: 4633
Gene Symbol: MYL2
MYL2
CUI: C1834460
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10 		0.700 Biomarker CLINGEN Identification of the genotypes causing hypertrophic cardiomyopathy in northern Sweden. 12818575

2003
Entrez Id: 4633
Gene Symbol: MYL2
MYL2
CUI: C1834460
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10 		0.700 Biomarker CLINGEN Systematic analysis of the regulatory and essential myosin light chain genes: genetic variants and mutations in hypertrophic cardiomyopathy. 12404107

2002
Entrez Id: 4633
Gene Symbol: MYL2
MYL2
CUI: C1834460
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10 		0.700 Biomarker CLINGEN Familial hypertrophic cardiomyopathy mutations in the regulatory light chains of myosin affect their structure, Ca2+ binding, and phosphorylation. 11102452

2001
Entrez Id: 4633
Gene Symbol: MYL2
MYL2
CUI: C1834460
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10 		0.700 Biomarker CLINGEN Identification of two novel mutations in the ventricular regulatory myosin light chain gene (MYL2) associated with familial and classical forms of hypertrophic cardiomyopathy. 9535554

1998
Entrez Id: 4633
Gene Symbol: MYL2
MYL2
CUI: C1834460
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10 		0.700 Biomarker CLINGEN Mutations in either the essential or regulatory light chains of myosin are associated with a rare myopathy in human heart and skeletal muscle. 8673105

1996
Entrez Id: 4633
Gene Symbol: MYL2
MYL2
CUI: C1834460
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10 		0.700 Biomarker CLINGEN Three-dimensional structure of myosin subfragment-1: a molecular motor. 8316857

1993
Entrez Id: 4633
Gene Symbol: MYL2
MYL2
CUI: C1834460
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10 		0.700 Biomarker CLINGEN Human atrial and ventricular myosin light-chains subunits in the adult and during development. 7236212

1980