DMD, dystrophin, 1756

N. diseases: 484; N. variants: 345
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: rs1462311598
rs1462311598
Entrez Id: 1756
Gene Symbol: DMD
DMD
CUI: C1449563
Disease:
Cardiomyopathy, Familial Idiopathic 		0.010 GeneticVariation BEFREE We identified a patient with DCM and EFE, having a mutation in MLP with the residue lysine 69 substituted by arginine (K69R). 14567970 2004