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: rs398123929
rs398123929
Entrez Id: 1756
Gene Symbol: DMD
DMD
CUI: C3668940
Disease:
Dmd-Associated Dilated Cardiomyopathy 		A 0.700 CausalMutation CLINVAR A population-based study of dystrophin mutations in Canada. 21515508 2011
dbSNP: rs398123929
rs398123929
Entrez Id: 1756
Gene Symbol: DMD
DMD
CUI: C3668940
Disease:
Dmd-Associated Dilated Cardiomyopathy 		A 0.700 CausalMutation CLINVAR Rapid and cost effective detection of small mutations in the DMD gene by high resolution melting curve analysis. 19409785 2009
dbSNP: rs398123929
rs398123929
Entrez Id: 1756
Gene Symbol: DMD
DMD
CUI: C3668940
Disease:
Dmd-Associated Dilated Cardiomyopathy 		A 0.700 CausalMutation CLINVAR Dystrophin nonsense mutations can generate alternative rescue transcripts in lymphocytes. 18652600 2008
dbSNP: rs398123929
rs398123929
Entrez Id: 1756
Gene Symbol: DMD
DMD
CUI: C3668940
Disease:
Dmd-Associated Dilated Cardiomyopathy 		A 0.700 CausalMutation CLINVAR Detection of mutations in the dystrophin gene via automated DHPLC screening and direct sequencing. 11710958 2001