DMD, dystrophin, 1756

N. diseases: 484; N. variants: 345
Disease: Dmd-Associated Dilated Cardiomyopathy ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs398123999
rs398123999
Entrez Id: 1756
Gene Symbol: DMD
DMD
CUI: C3668940
Disease:
Dmd-Associated Dilated Cardiomyopathy 		A 0.700 CausalMutation CLINVAR Genetic diagnosis of Duchenne and Becker muscular dystrophy using next-generation sequencing technology: comprehensive mutational search in a single platform. 21969337 2011
dbSNP: rs398123999
rs398123999
Entrez Id: 1756
Gene Symbol: DMD
DMD
CUI: C3668940
Disease:
Dmd-Associated Dilated Cardiomyopathy 		A 0.700 CausalMutation CLINVAR Point mutations in Czech DMD/BMD patients and their phenotypic outcome. 19783145 2009
dbSNP: rs398123999
rs398123999
Entrez Id: 1756
Gene Symbol: DMD
DMD
CUI: C3668940
Disease:
Dmd-Associated Dilated Cardiomyopathy 		A 0.700 CausalMutation CLINVAR Mutation analysis in a population-based cohort of boys with Duchenne or Becker muscular dystrophy. 19074751 2009
dbSNP: rs398123999
rs398123999
Entrez Id: 1756
Gene Symbol: DMD
DMD
CUI: C3668940
Disease:
Dmd-Associated Dilated Cardiomyopathy 		A 0.700 CausalMutation CLINVAR Mutation rates in the dystrophin gene: a hotspot of mutation at a CpG dinucleotide. 15643612 2005
dbSNP: rs398123999
rs398123999
Entrez Id: 1756
Gene Symbol: DMD
DMD
CUI: C3668940
Disease:
Dmd-Associated Dilated Cardiomyopathy 		A 0.700 CausalMutation CLINVAR Novel dystrophin mutations revealed by analysis of dystrophin mRNA: alternative splicing suppresses the phenotypic effect of a nonsense mutation. 11257468 2001