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: rs104894787
rs104894787
Entrez Id: 1756
Gene Symbol: DMD
DMD
CUI: C3668940
Disease:
Dmd-Associated Dilated Cardiomyopathy 		A 0.700 CausalMutation CLINVAR A comprehensive database of Duchenne and Becker muscular dystrophy patients (0-18 years old) in East China. 25612904 2015
dbSNP: rs104894787
rs104894787
Entrez Id: 1756
Gene Symbol: DMD
DMD
CUI: C3668940
Disease:
Dmd-Associated Dilated Cardiomyopathy 		A 0.700 CausalMutation CLINVAR Clinical and molecular characterization of a cohort of patients with novel nucleotide alterations of the Dystrophin gene detected by direct sequencing. 21396098 2011
dbSNP: rs104894787
rs104894787
Entrez Id: 1756
Gene Symbol: DMD
DMD
CUI: C3668940
Disease:
Dmd-Associated Dilated Cardiomyopathy 		A 0.700 CausalMutation CLINVAR How does type 1 diabetes develop?: the notion of homicide or β-cell suicide revisited. 21525508 2011
dbSNP: rs104894787
rs104894787
Entrez Id: 1756
Gene Symbol: DMD
DMD
CUI: C3668940
Disease:
Dmd-Associated Dilated Cardiomyopathy 		A 0.700 CausalMutation CLINVAR Genotype-phenotype analysis in 2,405 patients with a dystrophinopathy using the UMD-DMD database: a model of nationwide knowledgebase. 19367636 2009
dbSNP: rs104894787
rs104894787
Entrez Id: 1756
Gene Symbol: DMD
DMD
CUI: C3668940
Disease:
Dmd-Associated Dilated Cardiomyopathy 		A 0.700 CausalMutation CLINVAR Small mutations of the DMD gene in Taiwanese families. 18583217 2008
dbSNP: rs104894787
rs104894787
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: rs104894787
rs104894787
Entrez Id: 1756
Gene Symbol: DMD
DMD
CUI: C3668940
Disease:
Dmd-Associated Dilated Cardiomyopathy 		A 0.700 CausalMutation CLINVAR The role of muscle biopsy in analysis of the dystrophin gene in Duchenne muscular dystrophy: experience of a national referral centre. 15351422 2004
dbSNP: rs104894787
rs104894787
Entrez Id: 1756
Gene Symbol: DMD
DMD
CUI: C3668940
Disease:
Dmd-Associated Dilated Cardiomyopathy 		A 0.700 CausalMutation CLINVAR Point mutations in the dystrophin gene. 1549596 1992