DMD, dystrophin, 1756

N. diseases: 484; N. variants: 345
Disease: Dmd-Associated Dilated Cardiomyopathy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3668940
Disease: Dmd-Associated Dilated Cardiomyopathy
Dmd-Associated Dilated Cardiomyopathy 		0.800 GeneticVariation disease BEFREE A novel DMD splicing mutation found in a family responsible for X-linked dilated cardiomyopathy with hyper-CKemia. 29901616 2018
CUI: C3668940
Disease: Dmd-Associated Dilated Cardiomyopathy
Dmd-Associated Dilated Cardiomyopathy 		0.800 CausalMutation disease CLINVAR Dystrophin Exon 29 Nonsense Mutations Cause a Variably Mild Phenotype. 29581631 2017
CUI: C3668940
Disease: Dmd-Associated Dilated Cardiomyopathy
Dmd-Associated Dilated Cardiomyopathy 		0.800 CausalMutation disease CLINVAR Comprehensive analysis for genetic diagnosis of Dystrophinopathies in Japan. 28859693 2017
CUI: C3668940
Disease: Dmd-Associated Dilated Cardiomyopathy
Dmd-Associated Dilated Cardiomyopathy 		0.800 CausalMutation disease CLINVAR Do we need 3D tube current modulation information for accurate organ dosimetry in chest CT? Protocols dose comparisons. 28526893 2017
CUI: C3668940
Disease: Dmd-Associated Dilated Cardiomyopathy
Dmd-Associated Dilated Cardiomyopathy 		0.800 CausalMutation disease CLINVAR Clinical and mutational characteristics of Duchenne muscular dystrophy patients based on a comprehensive database in South China. 28318817 2017
CUI: C3668940
Disease: Dmd-Associated Dilated Cardiomyopathy
Dmd-Associated Dilated Cardiomyopathy 		0.800 CausalMutation disease CLINVAR Cryptic splice activation but not exon skipping is observed in minigene assays of dystrophin c.9361+1G>A mutation identified by NGS. 28100912 2017
CUI: C3668940
Disease: Dmd-Associated Dilated Cardiomyopathy
Dmd-Associated Dilated Cardiomyopathy 		0.800 GeneticVariation disease CLINVAR A case report with the peculiar concomitance of 2 different genetic syndromes. 27930565 2016
CUI: C3668940
Disease: Dmd-Associated Dilated Cardiomyopathy
Dmd-Associated Dilated Cardiomyopathy 		0.800 CausalMutation disease CLINVAR Genetic analysis of the dystrophin gene in children with Duchenne and Becker muscular dystrophies. 27750387 2017
CUI: C3668940
Disease: Dmd-Associated Dilated Cardiomyopathy
Dmd-Associated Dilated Cardiomyopathy 		0.800 CausalMutation disease CLINVAR The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States. 27708273 2017
CUI: C3668940
Disease: Dmd-Associated Dilated Cardiomyopathy
Dmd-Associated Dilated Cardiomyopathy 		0.800 CausalMutation disease CLINVAR Consecutive analysis of mutation spectrum in the dystrophin gene of 507 Korean boys with Duchenne/Becker muscular dystrophy in a single center. 27593222 2017
CUI: C3668940
Disease: Dmd-Associated Dilated Cardiomyopathy
Dmd-Associated Dilated Cardiomyopathy 		0.800 CausalMutation disease CLINVAR Duchenne muscular dystrophy caused by a frame-shift mutation in the acceptor splice site of intron 26. 27515321 2016
CUI: C3668940
Disease: Dmd-Associated Dilated Cardiomyopathy
Dmd-Associated Dilated Cardiomyopathy 		0.800 CausalMutation disease CLINVAR Implementation of a Reliable Next-Generation Sequencing Strategy for Molecular Diagnosis of Dystrophinopathies. 27425820 2016
CUI: C3668940
Disease: Dmd-Associated Dilated Cardiomyopathy
Dmd-Associated Dilated Cardiomyopathy 		0.800 CausalMutation disease CLINVAR [Mutation screening of 433 families with Duchenne/Becker muscular dystrophy]. 27122458 2016
CUI: C3668940
Disease: Dmd-Associated Dilated Cardiomyopathy
Dmd-Associated Dilated Cardiomyopathy 		0.800 GeneticVariation disease BEFREE We describe a previously healthy 16-year-old boy who presented with palpitations progressing to heart failure who was ultimately found to have a novel duplication of exons 13-16 in the dystrophin gene resulting in diagnosis of X-linked dilated cardiomyopathy. 26294044 2015
CUI: C3668940
Disease: Dmd-Associated Dilated Cardiomyopathy
Dmd-Associated Dilated Cardiomyopathy 		0.800 CausalMutation disease CLINVAR DMD mutation spectrum analysis in 613 Chinese patients with dystrophinopathy. 25972034 2015
CUI: C3668940
Disease: Dmd-Associated Dilated Cardiomyopathy
Dmd-Associated Dilated Cardiomyopathy 		0.800 GeneticVariation disease CLINVAR Diagnosis of becker muscular dystrophy: Results of Re-analysis of DNA samples. 25900853 2016
CUI: C3668940
Disease: Dmd-Associated Dilated Cardiomyopathy
Dmd-Associated Dilated Cardiomyopathy 		0.800 CausalMutation disease CLINVAR [c.2381-3T>C mutation of DMD gene: a rare SNP without significant pathogenicity]. 25636106 2015
CUI: C3668940
Disease: Dmd-Associated Dilated Cardiomyopathy
Dmd-Associated Dilated Cardiomyopathy 		0.800 CausalMutation disease CLINVAR A comprehensive database of Duchenne and Becker muscular dystrophy patients (0-18 years old) in East China. 25612904 2015
CUI: C3668940
Disease: Dmd-Associated Dilated Cardiomyopathy
Dmd-Associated Dilated Cardiomyopathy 		0.800 CausalMutation disease CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159 2015
CUI: C3668940
Disease: Dmd-Associated Dilated Cardiomyopathy
Dmd-Associated Dilated Cardiomyopathy 		0.800 GeneticVariation disease UNIPROT Consistently, XLDCM patients have decreased levels of dystrophin in cardiac muscle. 25340340 2014
CUI: C3668940
Disease: Dmd-Associated Dilated Cardiomyopathy
Dmd-Associated Dilated Cardiomyopathy 		0.800 Biomarker disease BEFREE Decrease in stability and increase in unfolding decrease the net population of dystrophin molecules available for function, which might trigger XLDCM. 25340340 2014
CUI: C3668940
Disease: Dmd-Associated Dilated Cardiomyopathy
Dmd-Associated Dilated Cardiomyopathy 		0.800 CausalMutation disease CLINVAR New variants, challenges and pitfalls in DMD genotyping: implications in diagnosis, prognosis and therapy. 25007885 2014
CUI: C3668940
Disease: Dmd-Associated Dilated Cardiomyopathy
Dmd-Associated Dilated Cardiomyopathy 		0.800 GeneticVariation disease CLINVAR New variants, challenges and pitfalls in DMD genotyping: implications in diagnosis, prognosis and therapy. 25007885 2014
CUI: C3668940
Disease: Dmd-Associated Dilated Cardiomyopathy
Dmd-Associated Dilated Cardiomyopathy 		0.800 CausalMutation disease CLINVAR Phase 2a study of ataluren-mediated dystrophin production in patients with nonsense mutation Duchenne muscular dystrophy. 24349052 2013
CUI: C3668940
Disease: Dmd-Associated Dilated Cardiomyopathy
Dmd-Associated Dilated Cardiomyopathy 		0.800 CausalMutation disease CLINVAR Dystrophin levels and clinical severity in Becker muscular dystrophy patients. 24292997 2014