MYL3, myosin light chain 3, 4634

N. diseases: 37; N. variants: 17
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 8 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1837471
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 8
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 8 		0.700 Biomarker disease GENOMICS_ENGLAND Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes. 30681346 2019
CUI: C1837471
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 8
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 8 		0.700 GeneticVariation disease CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257 2017
CUI: C1837471
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 8
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 8 		0.700 GeneticVariation disease CLINVAR Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity. 25611685 2015
CUI: C1837471
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 8
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 8 		0.700 GeneticVariation disease CLINVAR Genetics of hypertrophic cardiomyopathy in Norway. 24111713 2014
CUI: C1837471
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 8
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 8 		0.700 GeneticVariation disease UNIPROT Infantile hypertrophic cardiomyopathy associated with a novel MYL3 mutation. 23594557 2013
CUI: C1837471
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 8
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 8 		0.700 GeneticVariation disease CLINVAR Single-gene mutations and increased left ventricular wall thickness in the community: the Framingham Heart Study. 16754800 2006
CUI: C1837471
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 8
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 8 		0.700 GeneticVariation disease UNIPROT Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy. 12707239 2003
CUI: C1837471
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 8
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 8 		0.700 GeneticVariation disease UNIPROT Myosin light chain mutation causes autosomal recessive cardiomyopathy with mid-cavitary hypertrophy and restrictive physiology. 12021217 2002
CUI: C1837471
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 8
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 8 		0.700 GeneticVariation disease UNIPROT 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
CUI: C1837471
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 8
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 8 		0.700 CausalMutation disease CLINVAR
CUI: C1837471
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 8
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 8 		0.700 Biomarker disease CTD_human