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 Structural and functional responses of mammalian thick filaments to alterations in myosin regulatory light chains. 9724616

1998
Entrez Id: 4633
Gene Symbol: MYL2
MYL2
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.500 CausalMutation CLINVAR 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: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.500 GeneticVariation CLINVAR 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