Source: CLINGEN

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4634
Gene Symbol: MYL3
MYL3
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.480 Biomarker CLINGEN Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257

2017
Entrez Id: 4634
Gene Symbol: MYL3
MYL3
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.480 Biomarker CLINGEN A Next-Generation Sequencing Approach to Identify Gene Mutations in Early- and Late-Onset Hypertrophic Cardiomyopathy Patients of an Italian Cohort. 27483260

2016
Entrez Id: 4634
Gene Symbol: MYL3
MYL3
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.480 Biomarker CLINGEN Whole exome sequencing combined with integrated variant annotation prediction identifies a causative myosin essential light chain variant in hypertrophic cardiomyopathy. 26443374

2016
Entrez Id: 4634
Gene Symbol: MYL3
MYL3
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.480 Biomarker CLINGEN Detection of mutations in symptomatic patients with hypertrophic cardiomyopathy in Taiwan. 25086479

2015
Entrez Id: 4634
Gene Symbol: MYL3
MYL3
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.480 Biomarker CLINGEN Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity. 25611685

2015
Entrez Id: 4634
Gene Symbol: MYL3
MYL3
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.480 Biomarker CLINGEN Genetic profile of hypertrophic cardiomyopathy in Tunisia: Is it different? 26779504

2015
Entrez Id: 4634
Gene Symbol: MYL3
MYL3
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.480 Biomarker CLINGEN Increased amount of interstitial fibrosis predicts ventricular arrhythmias, and is associated with reduced myocardial septal function in patients with obstructive hypertrophic cardiomyopathy. 23426552

2013
Entrez Id: 4634
Gene Symbol: MYL3
MYL3
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.480 Biomarker CLINGEN Human essential myosin light chain isoforms revealed distinct myosin binding, sarcomeric sorting, and inotropic activity. 21262909

2011
Entrez Id: 4634
Gene Symbol: MYL3
MYL3
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.480 Biomarker CLINGEN Rapid detection of genetic variants in hypertrophic cardiomyopathy by custom DNA resequencing array in clinical practice. 21239446

2011
Entrez Id: 4634
Gene Symbol: MYL3
MYL3
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.480 Biomarker CLINGEN Diagnostic yield, interpretation, and clinical utility of mutation screening of sarcomere encoding genes in Danish hypertrophic cardiomyopathy patients and relatives. 19035361

2009
Entrez Id: 4634
Gene Symbol: MYL3
MYL3
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.480 Biomarker CLINGEN Shared genetic causes of cardiac hypertrophy in children and adults. 18403758

2008
Entrez Id: 4634
Gene Symbol: MYL3
MYL3
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.480 Biomarker CLINGEN A DNA resequencing array for pathogenic mutation detection in hypertrophic cardiomyopathy. 18409188

2008
Entrez Id: 4634
Gene Symbol: MYL3
MYL3
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.480 Biomarker CLINGEN Minigenes encoding N-terminal domains of human cardiac myosin light chain-1 improve heart function of transgenic rats. 16675844

2006
Entrez Id: 4634
Gene Symbol: MYL3
MYL3
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.480 Biomarker CLINGEN Gene mutations in apical hypertrophic cardiomyopathy. 16267253

2005
Entrez Id: 4634
Gene Symbol: MYL3
MYL3
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.480 Biomarker CLINGEN The entire coding sequences of 9 genes (MYH7, MYBPC3, TNNI3, TNNT2, MYL2, MYL3, TPM1, ACTC, andTNNC1) were analyzed in 197 unrelated index cases with familial or sporadic hypertrophic cardiomyopathy. 12707239

2003
Entrez Id: 4634
Gene Symbol: MYL3
MYL3
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.480 Biomarker CLINGEN Different expressivity of a ventricular essential myosin light chain gene Ala57Gly mutation in familial hypertrophic cardiomyopathy. 11174330

2001
Entrez Id: 4634
Gene Symbol: MYL3
MYL3
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.480 Biomarker CLINGEN The stretch-activation response may be critical to the proper functioning of the mammalian heart. 9927691

1999
Entrez Id: 4634
Gene Symbol: MYL3
MYL3
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.480 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: 4634
Gene Symbol: MYL3
MYL3
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.480 Biomarker CLINGEN Novel monoclonal antibodies specific for human cardiac myosin light-chain 1: useful tools for analysis of normal and pathological hearts. 8417110

1993