rs199474702, MYL3

N. diseases: 1
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 8 ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 8
CUI: C1837471
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 8
0.700 GeneticVariation UNIPROT Infantile hypertrophic cardiomyopathy associated with a novel MYL3 mutation. 23594557 2013
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 8
CUI: C1837471
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 8
0.700 GeneticVariation UNIPROT Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy. 12707239 2003
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 8
CUI: C1837471
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 8
0.700 GeneticVariation UNIPROT Myosin light chain mutation causes autosomal recessive cardiomyopathy with mid-cavitary hypertrophy and restrictive physiology. 12021217 2002
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 8
CUI: C1837471
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 8
0.700 GeneticVariation 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