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: rs398123839
rs398123839
Entrez Id: 1756
Gene Symbol: DMD
DMD
CUI: C3668940
Disease:
Dmd-Associated Dilated Cardiomyopathy 		C 0.700 CausalMutation CLINVAR DGGE-based whole-gene mutation scanning of the dystrophin gene in Duchenne and Becker muscular dystrophy patients. 14695533 2004
dbSNP: rs398123839
rs398123839
Entrez Id: 1756
Gene Symbol: DMD
DMD
CUI: C3668940
Disease:
Dmd-Associated Dilated Cardiomyopathy 		C 0.700 CausalMutation CLINVAR Diagnosis of Duchenne dystrophy by enhanced detection of small mutations. 11524473 2001
dbSNP: rs398123839
rs398123839
Entrez Id: 1756
Gene Symbol: DMD
DMD
CUI: C3668940
Disease:
Dmd-Associated Dilated Cardiomyopathy 		C 0.700 CausalMutation CLINVAR Point mutations at the carboxy terminus of the human dystrophin gene: implications for an association with mental retardation in DMD patients. 8281150 1993
dbSNP: rs398123839
rs398123839
Entrez Id: 1756
Gene Symbol: DMD
DMD
CUI: C3668940
Disease:
Dmd-Associated Dilated Cardiomyopathy 		C 0.700 CausalMutation CLINVAR Point mutations in the dystrophin gene. 1549596 1992