DES, desmin, 1674

N. diseases: 330; N. variants: 63
Disease: Cardiomyopathy, Familial Idiopathic ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs61726467
rs61726467
Entrez Id: 1674
Gene Symbol: DES
DES
CUI: C1449563
Disease:
Cardiomyopathy, Familial Idiopathic 		0.010 GeneticVariation BEFREE A novel E413K mutation in desmin caused autosomal dominant RCM rather than DCM. 16890305 2007