Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1756
Gene Symbol: DMD
DMD 		0.800 GeneticVariation disease CLINVAR MLPA-based genotype-phenotype analysis in 1053 Chinese patients with DMD/BMD. 23453023 2013
Entrez Id: 1756
Gene Symbol: DMD
DMD 		0.800 CausalMutation disease CLINVAR Interplay between DMD point mutations and splicing signals in Dystrophinopathy phenotypes. 23536893 2013
Entrez Id: 1756
Gene Symbol: DMD
DMD 		0.800 CausalMutation disease CLINVAR Phase 2a study of ataluren-mediated dystrophin production in patients with nonsense mutation Duchenne muscular dystrophy. 24349052 2013
Entrez Id: 1756
Gene Symbol: DMD
DMD 		0.800 GeneticVariation disease CLINVAR Interplay between DMD point mutations and splicing signals in Dystrophinopathy phenotypes. 23536893 2013
Entrez Id: 1756
Gene Symbol: DMD
DMD 		0.800 CausalMutation disease CLINVAR MLPA-based genotype-phenotype analysis in 1053 Chinese patients with DMD/BMD. 23453023 2013
Entrez Id: 1756
Gene Symbol: DMD
DMD 		0.800 CausalMutation disease CLINVAR Association between loss of dp140 and cognitive impairment in duchenne and becker dystrophies. 24265581 2013
Entrez Id: 1756
Gene Symbol: DMD
DMD 		0.800 GeneticVariation disease BEFREE X-linked dilated cardiomyopathy is a pure cardiac dystrophinopathy phenotype mainly caused by DMD mutations that present a specific transcription effect in cardiac tissue. 22092019 2012
Entrez Id: 1756
Gene Symbol: DMD
DMD 		0.800 GeneticVariation disease CLINVAR Rapid, comprehensive analysis of the dystrophin transcript by a custom micro-fluidic exome array. 22223181 2012
Entrez Id: 1756
Gene Symbol: DMD
DMD 		0.800 CausalMutation disease CLINVAR Manifesting pediatric carrier of isolated dystrophinopathy with initial presentation of myalgia and persistent hyperCKemia. 23276443 2012
Entrez Id: 1756
Gene Symbol: DMD
DMD 		0.800 CausalMutation disease CLINVAR Isolated cardiomyopathy caused by a DMD nonsense mutation in somatic mosaicism: genetic normalization in skeletal muscle. 22092019 2012
Entrez Id: 1756
Gene Symbol: DMD
DMD 		0.800 AlteredExpression disease BEFREE The absence of dystrophin brain isoform expression in healthy human heart ventricles explains the pathogenesis of 5' X-linked dilated cardiomyopathy. 22455600 2012
Entrez Id: 1756
Gene Symbol: DMD
DMD 		0.800 CausalMutation disease CLINVAR Clinical and molecular characterization of a cohort of patients with novel nucleotide alterations of the Dystrophin gene detected by direct sequencing. 21396098 2011
Entrez Id: 1756
Gene Symbol: DMD
DMD 		0.800 CausalMutation disease CLINVAR Nonsense mutation-associated Becker muscular dystrophy: interplay between exon definition and splicing regulatory elements within the DMD gene. 21972111 2011
Entrez Id: 1756
Gene Symbol: DMD
DMD 		0.800 CausalMutation disease CLINVAR Genotype and phenotype characterization in a large dystrophinopathic cohort with extended follow-up. 21399986 2011
Entrez Id: 1756
Gene Symbol: DMD
DMD 		0.800 CausalMutation disease CLINVAR Genetic diagnosis of Duchenne and Becker muscular dystrophy using next-generation sequencing technology: comprehensive mutational search in a single platform. 21969337 2011
Entrez Id: 1756
Gene Symbol: DMD
DMD 		0.800 CausalMutation disease CLINVAR How does type 1 diabetes develop?: the notion of homicide or β-cell suicide revisited. 21525508 2011
Entrez Id: 1756
Gene Symbol: DMD
DMD 		0.800 CausalMutation disease CLINVAR A population-based study of dystrophin mutations in Canada. 21515508 2011
Entrez Id: 1756
Gene Symbol: DMD
DMD 		0.800 CausalMutation disease CLINVAR LOVD v.2.0: the next generation in gene variant databases. 21520333 2011
Entrez Id: 1756
Gene Symbol: DMD
DMD 		0.800 CausalMutation disease CLINVAR Dystrophin gene mutation location and the risk of cognitive impairment in Duchenne muscular dystrophy. 20098710 2010
Entrez Id: 1756
Gene Symbol: DMD
DMD 		0.800 CausalMutation disease CLINVAR One hundred twenty-one dystrophin point mutations detected from stored DNA samples by combinatorial denaturing high-performance liquid chromatography. 19959795 2010
Entrez Id: 1756
Gene Symbol: DMD
DMD 		0.800 GeneticVariation disease BEFREE A functional role for these sequences was suggested by a pure intronic DMD deletion causing X-linked dilated cardiomyopathy through the prevalent cardiac incorporation of the aberrant pseudo-exon, marked as Alu-exon, into the dystrophin transcript. 20486769 2010
Entrez Id: 1756
Gene Symbol: DMD
DMD 		0.800 CausalMutation disease CLINVAR Mutation spectrum of the dystrophin gene in 442 Duchenne/Becker muscular dystrophy cases from one Japanese referral center. 20485447 2010
Entrez Id: 1756
Gene Symbol: DMD
DMD 		0.800 GeneticVariation disease CLINVAR Mutation spectrum of the dystrophin gene in 442 Duchenne/Becker muscular dystrophy cases from one Japanese referral center. 20485447 2010
Entrez Id: 1756
Gene Symbol: DMD
DMD 		0.800 CausalMutation disease CLINVAR Rapid and cost effective detection of small mutations in the DMD gene by high resolution melting curve analysis. 19409785 2009
Entrez Id: 1756
Gene Symbol: DMD
DMD 		0.800 GeneticVariation disease CLINVAR Analysis of Dp71 contribution in the severity of mental retardation through comparison of Duchenne and Becker patients differing by mutation consequences on Dp71 expression. 19602481 2009