MYL3, myosin light chain 3, 4634

N. diseases: 37; N. variants: 17
Disease: Cardiomyopathy, Familial Hypertrophic, 1 (disorder) ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3495498
Disease: Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
Cardiomyopathy, Familial Hypertrophic, 1 (disorder) 		0.100 GeneticVariation disease CLINVAR Mutations of ventricular essential myosin light chain disturb myosin binding and sarcomeric sorting. 22131351 2012
CUI: C3495498
Disease: Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
Cardiomyopathy, Familial Hypertrophic, 1 (disorder) 		0.100 GeneticVariation disease 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