Source: CLINVAR

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 GeneticVariation CLINVAR 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 GeneticVariation CLINVAR MYBPC3 mutations are associated with a reduced super-relaxed state in patients with hypertrophic cardiomyopathy. 28658286

2017
Entrez Id: 4634
Gene Symbol: MYL3
MYL3
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.480 GeneticVariation CLINVAR 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 GeneticVariation CLINVAR Widespread macromolecular interaction perturbations in human genetic disorders. 25910212

2015
Entrez Id: 4634
Gene Symbol: MYL3
MYL3
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.480 GeneticVariation CLINVAR Mutation analysis of the main hypertrophic cardiomyopathy genes using multiplex amplification and semiconductor next-generation sequencing. 25342278

2014
Entrez Id: 4634
Gene Symbol: MYL3
MYL3
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.480 GeneticVariation CLINVAR Multiple gene mutations, not the type of mutation, are the modifier of left ventricle hypertrophy in patients with hypertrophic cardiomyopathy. 23283745

2013
Entrez Id: 4634
Gene Symbol: MYL3
MYL3
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.480 GeneticVariation CLINVAR Mutations of ventricular essential myosin light chain disturb myosin binding and sarcomeric sorting. 22131351

2012
Entrez Id: 4634
Gene Symbol: MYL3
MYL3
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.480 GeneticVariation CLINVAR Furthering the link between the sarcomere and primary cardiomyopathies: restrictive cardiomyopathy associated with multiple mutations in genes previously associated with hypertrophic or dilated cardiomyopathy. 21823217

2011
Entrez Id: 4634
Gene Symbol: MYL3
MYL3
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.480 GeneticVariation CLINVAR Prevalence of sarcomere protein gene mutations in preadolescent children with hypertrophic cardiomyopathy. 20031618

2009
Entrez Id: 4634
Gene Symbol: MYL3
MYL3
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.480 GeneticVariation CLINVAR 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 GeneticVariation CLINVAR Myosin light chain mutation causes autosomal recessive cardiomyopathy with mid-cavitary hypertrophy and restrictive physiology. 12021217

2002
Entrez Id: 4634
Gene Symbol: MYL3
MYL3
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.480 CausalMutation CLINVAR