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: rs373286166
rs373286166
Entrez Id: 1756
Gene Symbol: DMD
DMD
CUI: C3668940
Disease:
Dmd-Associated Dilated Cardiomyopathy 		T 0.700 GeneticVariation CLINVAR A case report with the peculiar concomitance of 2 different genetic syndromes. 27930565 2016
dbSNP: rs373286166
rs373286166
Entrez Id: 1756
Gene Symbol: DMD
DMD
CUI: C3668940
Disease:
Dmd-Associated Dilated Cardiomyopathy 		T 0.700 GeneticVariation CLINVAR Rapid, comprehensive analysis of the dystrophin transcript by a custom micro-fluidic exome array. 22223181 2012
dbSNP: rs373286166
rs373286166
Entrez Id: 1756
Gene Symbol: DMD
DMD
CUI: C3668940
Disease:
Dmd-Associated Dilated Cardiomyopathy 		T 0.700 GeneticVariation CLINVAR Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort. 19937601 2009
dbSNP: rs373286166
rs373286166
Entrez Id: 1756
Gene Symbol: DMD
DMD
CUI: C3668940
Disease:
Dmd-Associated Dilated Cardiomyopathy 		T 0.700 GeneticVariation CLINVAR Array-MLPA: comprehensive detection of deletions and duplications and its application to DMD patients. 17854090 2008
dbSNP: rs373286166
rs373286166
Entrez Id: 1756
Gene Symbol: DMD
DMD
CUI: C3668940
Disease:
Dmd-Associated Dilated Cardiomyopathy 		T 0.700 GeneticVariation CLINVAR Measurement of the clinical utility of a combined mutation detection protocol in carriers of Duchenne and Becker muscular dystrophy. 17259292 2007