rs267607486, DES

N. diseases: 3
Disease: Cardiomyopathies ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Cardiomyopathies
CUI: C0878544
Disease: Cardiomyopathies
0.010 GeneticVariation BEFREE Here, we examined a desmin mutation, E245D, that is located within the coil IB (nebulin-binding) region of desmin and that has been reported to cause human cardiomyopathy and skeletal muscle atrophy. 19005210 2009