DMD, dystrophin, 1756

N. diseases: 35; N. variants: 305
Disease: Dmd-Associated Dilated Cardiomyopathy ×
Source: CLINVAR ×
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 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 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 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 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 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 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 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 Comprehensive analysis for genetic diagnosis of Dystrophinopathies in Japan. 28859693 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 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 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 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 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 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 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 Targeted next-generation sequencing as a comprehensive test for patients with and female carriers of DMDBMD: a multi-population diagnostic study. 23756440 2014
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
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 GeneticVariation disease CLINVAR MLPA-based genotype-phenotype analysis in 1053 Chinese patients with DMD/BMD. 23453023 2013
CUI: C3668940
Disease: Dmd-Associated Dilated Cardiomyopathy
Dmd-Associated Dilated Cardiomyopathy 		0.800 CausalMutation disease CLINVAR Interplay between DMD point mutations and splicing signals in Dystrophinopathy phenotypes. 23536893 2013
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 GeneticVariation disease CLINVAR Interplay between DMD point mutations and splicing signals in Dystrophinopathy phenotypes. 23536893 2013