MYL2, myosin light chain 2, 4633

N. diseases: 104; N. variants: 28
Disease: Cardiomyopathies ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.440 GeneticVariation group BEFREE The co-segregation of the MYL2 R58Q mutation in Chinese hypertrophic cardiomyopathy family and its pathological effect on cardiomyopathy disarray. 31104103 2019
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.440 GeneticVariation group BEFREE MYL2 and MYL3 mutations are rare and the least cause of cardiomyopathies in Indians. 30605904 2018
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.440 GeneticVariation group BEFREE Heterozygous missense mutations in MYL2 are known to cause dominant hypertrophic cardiomyopathy; however, none of the parents showed signs of cardiomyopathy. 23365102 2013
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.440 Biomarker group BEFREE Myosin regulatory light chain 2, ventricular/cardiac muscle isoform (MLC2v), which is involved in the development of human cardiomyopathy, is an important structural protein that affects physiologic cardiac sarcomere formation and heart development. 17885681 2007
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.440 GeneticVariation group CLINVAR
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.440 Biomarker group GENOMICS_ENGLAND