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: rs398123834
rs398123834
Entrez Id: 1756
Gene Symbol: DMD
DMD
CUI: C3668940
Disease:
Dmd-Associated Dilated Cardiomyopathy 		G 0.700 CausalMutation CLINVAR Screening for minor changes in the distal part of the human dystrophin gene in Greek DMD/BMD patients. 10196701 1999
dbSNP: rs398123834
rs398123834
Entrez Id: 1756
Gene Symbol: DMD
DMD
CUI: C3668940
Disease:
Dmd-Associated Dilated Cardiomyopathy 		G 0.700 CausalMutation CLINVAR Three novel point mutations in the dystrophin gene in DMD patients. 9143930 1997