rs104893749, MYL3

N. diseases: 2
Disease: Cardiomyopathy, Familial Hypertrophic, 1 (disorder) ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
CUI: C3495498
Disease: Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
0.700 GeneticVariation CLINVAR Mutations of ventricular essential myosin light chain disturb myosin binding and sarcomeric sorting. 22131351 2012
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
CUI: C3495498
Disease: Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
0.700 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