MYL2, myosin light chain 2, 4633

N. diseases: 104; N. variants: 28
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4732796
Disease: Apical hypertrophic cardiomyopathy
Apical hypertrophic cardiomyopathy
0.010 GeneticVariation disease BEFREE Induced Pluripotent Stem Cell-Derived Cardiomyocytes from a Patient with MYL2-R58Q-Mediated Apical Hypertrophic Cardiomyopathy Show Hypertrophy, Myofibrillar Disarray, and Calcium Perturbations. 30796699 2019