Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4633
Gene Symbol: MYL2
MYL2
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.500 GeneticVariation CLINVAR 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: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.500 CausalMutation CLINVAR 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: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.500 CausalMutation CLINVAR Evaluation of the Mayo Clinic Phenotype-Based Genotype Predictor Score in Patients with Clinically Diagnosed Hypertrophic Cardiomyopathy. 26914223

2016
Entrez Id: 4633
Gene Symbol: MYL2
MYL2
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.500 GeneticVariation CLINVAR Hypertrophic remodelling in cardiac regulatory myosin light chain (MYL2) founder mutation carriers. 26497160

2016
Entrez Id: 4633
Gene Symbol: MYL2
MYL2
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.500 GeneticVariation CLINVAR Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity. 25611685

2015
Entrez Id: 4633
Gene Symbol: MYL2
MYL2
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.500 CausalMutation CLINVAR Utility and limitations of exome sequencing as a genetic diagnostic tool for conditions associated with pediatric sudden cardiac arrest/sudden cardiac death. 26187847

2015
Entrez Id: 4633
Gene Symbol: MYL2
MYL2
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.500 CausalMutation CLINVAR Diversity and similarity of motor function and cross-bridge kinetics in papillary muscles of transgenic mice carrying myosin regulatory light chain mutations D166V and R58Q. 23727233

2013
Entrez Id: 4633
Gene Symbol: MYL2
MYL2
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.500 GeneticVariation CLINVAR Regulatory light chain mutants linked to heart disease modify the cardiac myosin lever arm. 23343568

2013
Entrez Id: 4633
Gene Symbol: MYL2
MYL2
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.500 CausalMutation CLINVAR Microvascular function is selectively impaired in patients with hypertrophic cardiomyopathy and sarcomere myofilament gene mutations. 21835320

2011
Entrez Id: 4633
Gene Symbol: MYL2
MYL2
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.500 CausalMutation CLINVAR Cross-bridge kinetics in myofibrils containing familial hypertrophic cardiomyopathy R58Q mutation in the regulatory light chain of myosin. 21723297

2011
Entrez Id: 4633
Gene Symbol: MYL2
MYL2
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.500 GeneticVariation CLINVAR Genetic basis of end-stage hypertrophic cardiomyopathy. 21896538

2011
Entrez Id: 4633
Gene Symbol: MYL2
MYL2
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.500 CausalMutation CLINVAR Cardiomyopathy-linked myosin regulatory light chain mutations disrupt myosin strain-dependent biochemistry. 20855589

2010
Entrez Id: 4633
Gene Symbol: MYL2
MYL2
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.500 CausalMutation CLINVAR Regulatory light chain mutations associated with cardiomyopathy affect myosin mechanics and kinetics. 18929571

2009
Entrez Id: 4633
Gene Symbol: MYL2
MYL2
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.500 GeneticVariation CLINVAR Myofilament protein gene mutation screening and outcome of patients with hypertrophic cardiomyopathy. 18533079

2008
Entrez Id: 4633
Gene Symbol: MYL2
MYL2
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.500 GeneticVariation CLINVAR Myosin regulatory light chain E22K mutation results in decreased cardiac intracellular calcium and force transients. 17606808

2007
Entrez Id: 4633
Gene Symbol: MYL2
MYL2
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.500 GeneticVariation CLINVAR E22K mutation of RLC that causes familial hypertrophic cardiomyopathy in heterozygous mouse myocardium: effect on cross-bridge kinetics. 16751284

2006
Entrez Id: 4633
Gene Symbol: MYL2
MYL2
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.500 GeneticVariation CLINVAR 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: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.500 CausalMutation CLINVAR Familial hypertrophic cardiomyopathy-linked alterations in Ca2+ binding of human cardiac myosin regulatory light chain affect cardiac muscle contraction. 14594949

2004
Entrez Id: 4633
Gene Symbol: MYL2
MYL2
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.500 CausalMutation CLINVAR Identification of the genotypes causing hypertrophic cardiomyopathy in northern Sweden. 12818575

2003
Entrez Id: 4633
Gene Symbol: MYL2
MYL2
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.500 GeneticVariation CLINVAR Mechanical defects of muscle fibers with myosin light chain mutants that cause cardiomyopathy. 12668451

2003
Entrez Id: 4633
Gene Symbol: MYL2
MYL2
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.500 CausalMutation CLINVAR 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: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.500 GeneticVariation CLINVAR 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: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.500 GeneticVariation CLINVAR 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: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.500 CausalMutation CLINVAR 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: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.500 GeneticVariation CLINVAR In vivo analysis of an essential myosin light chain mutation linked to familial hypertrophic cardiomyopathy. 10948063

2000