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 CausalMutation disease CLINVAR In vitro splicing analysis showed that availability of a cryptic splice site is not a determinant for alternative splicing patterns caused by +1G-->A mutations in introns of the dystrophin gene. 19001018 2009
Entrez Id: 1756
Gene Symbol: DMD
DMD 		0.800 CausalMutation disease CLINVAR Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort. 19937601 2009
Entrez Id: 1756
Gene Symbol: DMD
DMD 		0.800 CausalMutation disease CLINVAR Somatic mosaicism for Duchenne dystrophy: evidence for genetic normalization mitigating muscle symptoms. 19530190 2009
Entrez Id: 1756
Gene Symbol: DMD
DMD 		0.800 GeneticVariation disease BEFREE Mutations in the DMD gene, encoding the dystrophin protein, are responsible for the dystrophinopathies Duchenne Muscular Dystrophy (DMD), Becker Muscular Dystrophy (BMD), and X-linked Dilated Cardiomyopathy (XLDC). 19937601 2009
Entrez Id: 1756
Gene Symbol: DMD
DMD 		0.800 CausalMutation disease CLINVAR Becker muscular dystrophy caused by an intronic mutation reducing the efficiency of the splice donor site of intron 26 of the dystrophin gene. 19230662 2009
Entrez Id: 1756
Gene Symbol: DMD
DMD 		0.800 GeneticVariation disease BEFREE We analyzed 78 BMD and X-linked dilated cardiomyopathy patients with common deletion mutations predicted to alter the dystrophin protein and correlated their mutations to cardiomyopathy age of onset. 20031633 2009
Entrez Id: 1756
Gene Symbol: DMD
DMD 		0.800 CausalMutation 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
Entrez Id: 1756
Gene Symbol: DMD
DMD 		0.800 CausalMutation disease CLINVAR Genotype-phenotype analysis in 2,405 patients with a dystrophinopathy using the UMD-DMD database: a model of nationwide knowledgebase. 19367636 2009
Entrez Id: 1756
Gene Symbol: DMD
DMD 		0.800 CausalMutation disease CLINVAR Point mutations in Czech DMD/BMD patients and their phenotypic outcome. 19783145 2009
Entrez Id: 1756
Gene Symbol: DMD
DMD 		0.800 GeneticVariation disease CLINVAR Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort. 19937601 2009
Entrez Id: 1756
Gene Symbol: DMD
DMD 		0.800 CausalMutation disease CLINVAR Automated DNA mutation detection using universal conditions direct sequencing: application to ten muscular dystrophy genes. 19835634 2009
Entrez Id: 1756
Gene Symbol: DMD
DMD 		0.800 CausalMutation disease CLINVAR DMD exon 1 truncating point mutations: amelioration of phenotype by alternative translation initiation in exon 6. 19206170 2009
Entrez Id: 1756
Gene Symbol: DMD
DMD 		0.800 CausalMutation disease CLINVAR Mutation analysis in a population-based cohort of boys with Duchenne or Becker muscular dystrophy. 19074751 2009
Entrez Id: 1756
Gene Symbol: DMD
DMD 		0.800 CausalMutation disease CLINVAR DMD Trp3X nonsense mutation associated with a founder effect in North American families with mild Becker muscular dystrophy. 19793655 2009
Entrez Id: 1756
Gene Symbol: DMD
DMD 		0.800 CausalMutation disease CLINVAR Exon skipping-mediated dystrophin reading frame restoration for small mutations. 19760747 2009
Entrez Id: 1756
Gene Symbol: DMD
DMD 		0.800 GeneticVariation disease BEFREE Dystrophin localizes at the X chromosome, whose mutations might result in Duchenne muscular dystrophy, Becker muscular dystrophy and X-linked dilated cardiomyopathy. 18562127 2008
Entrez Id: 1756
Gene Symbol: DMD
DMD 		0.800 CausalMutation disease CLINVAR Dystrophin nonsense mutations can generate alternative rescue transcripts in lymphocytes. 18652600 2008
Entrez Id: 1756
Gene Symbol: DMD
DMD 		0.800 CausalMutation disease CLINVAR Small mutations of the DMD gene in Taiwanese families. 18583217 2008
Entrez Id: 1756
Gene Symbol: DMD
DMD 		0.800 CausalMutation disease CLINVAR Simultaneous mutation scanning for gross deletions, duplications and point mutations in the DMD gene. 17726484 2008
Entrez Id: 1756
Gene Symbol: DMD
DMD 		0.800 GeneticVariation disease CLINVAR Array-MLPA: comprehensive detection of deletions and duplications and its application to DMD patients. 17854090 2008
Entrez Id: 1756
Gene Symbol: DMD
DMD 		0.800 CausalMutation disease CLINVAR Measurement of the clinical utility of a combined mutation detection protocol in carriers of Duchenne and Becker muscular dystrophy. 17259292 2007
Entrez Id: 1756
Gene Symbol: DMD
DMD 		0.800 CausalMutation disease CLINVAR Screening human genes for small alterations performing an enzymatic cleavage mismatched analysis (ECMA) protocol. 17952667 2007
Entrez Id: 1756
Gene Symbol: DMD
DMD 		0.800 GeneticVariation disease BEFREE X-linked dilated cardiomyopathy (XLCM) was first described in 1987 and associated with dystrophin gene (DMD) mutations a decade later in one of the original two families. 17899313 2007
Entrez Id: 1756
Gene Symbol: DMD
DMD 		0.800 CausalMutation disease CLINVAR [Detection of new mutations in the dystrophin gene by denaturing high-performance liquid chromatography]. 17880784 2007
Entrez Id: 1756
Gene Symbol: DMD
DMD 		0.800 CausalMutation disease CLINVAR Simultaneous MLPA-based multiplex point mutation and deletion analysis of the dystrophin gene. 17435279 2007