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 Biomarker disease BEFREE We speculate that this insertion of an L1 sequence in DMD is responsible for some of the population of Japanese patients with XLDCM. 9618170 1998
Entrez Id: 1756
Gene Symbol: DMD
DMD 		0.800 CausalMutation disease CLINVAR Mutation analysis of the dystrophin gene in Southern French DMD or BMD families: from Southern blot to protein truncation test. 9544849 1998
Entrez Id: 1756
Gene Symbol: DMD
DMD 		0.800 GeneticVariation disease BEFREE X-linked dilated cardiomyopathy and the dystrophin gene. 10407857 1999
Entrez Id: 1756
Gene Symbol: DMD
DMD 		0.800 CausalMutation disease CLINVAR Screening for minor changes in the distal part of the human dystrophin gene in Greek DMD/BMD patients. 10196701 1999
Entrez Id: 1756
Gene Symbol: DMD
DMD 		0.800 CausalMutation disease CLINVAR Point mutations in the dystrophin gene: evidence for frequent use of cryptic splice sites as a result of splicing defects. 10533061 1999
Entrez Id: 1756
Gene Symbol: DMD
DMD 		0.800 CausalMutation disease CLINVAR Identification of three novel mutations in the dystrophin gene detected by the heteroduplex/SSCA screening procedure. Mutations in brief no. 222. Online. 10094565 1999
Entrez Id: 1756
Gene Symbol: DMD
DMD 		0.800 CausalMutation disease CLINVAR Severe cognitive impairment in DMD: obvious clinical indication for Dp71 isoform point mutation screening. 10909857 2000
Entrez Id: 1756
Gene Symbol: DMD
DMD 		0.800 GeneticVariation disease BEFREE Association of nonsense mutation of dystrophin gene with disruption of sarcoglycan complex in X-linked dilated cardiomyopathy. 10832829 2000
Entrez Id: 1756
Gene Symbol: DMD
DMD 		0.800 CausalMutation disease CLINVAR Dystrophin nonsense mutation induces different levels of exon 29 skipping and leads to variable phenotypes within one BMD family. 11039581 2000
Entrez Id: 1756
Gene Symbol: DMD
DMD 		0.800 CausalMutation disease CLINVAR Novel dystrophin mutations revealed by analysis of dystrophin mRNA: alternative splicing suppresses the phenotypic effect of a nonsense mutation. 11257468 2001
Entrez Id: 1756
Gene Symbol: DMD
DMD 		0.800 CausalMutation disease CLINVAR Diagnosis of Duchenne dystrophy by enhanced detection of small mutations. 11524473 2001
Entrez Id: 1756
Gene Symbol: DMD
DMD 		0.800 AlteredExpression disease BEFREE Dystrophin muscle enhancer 1 is implicated in the activation of non-muscle isoforms in the skeletal muscle of patients with X-linked dilated cardiomyopathy. 11726549 2001
Entrez Id: 1756
Gene Symbol: DMD
DMD 		0.800 Biomarker disease BEFREE Despite promoter tissue specificity, up-regulation of the brain and Purkinje cell type dystrophin isoforms was described in skeletal muscle of X-linked dilated cardiomyopathy (XLDCM) and BMD affected individuals. 11412872 2001
Entrez Id: 1756
Gene Symbol: DMD
DMD 		0.800 CausalMutation disease CLINVAR Detection of mutations in the dystrophin gene via automated DHPLC screening and direct sequencing. 11710958 2001
Entrez Id: 1756
Gene Symbol: DMD
DMD 		0.800 CausalMutation disease CLINVAR Comprehensive mutation scanning of the dystrophin gene in patients with nonsyndromic X-linked dilated cardiomyopathy. 12354438 2002
Entrez Id: 1756
Gene Symbol: DMD
DMD 		0.800 PosttranslationalModification disease BEFREE This is the first comprehensive scanning of the dystrophin gene in XLCM. 12354438 2002
Entrez Id: 1756
Gene Symbol: DMD
DMD 		0.800 CausalMutation disease CLINVAR DGGE analysis as a tool to identify point mutations, de novo mutations and carriers of the dystrophin gene. 12398835 2002
Entrez Id: 1756
Gene Symbol: DMD
DMD 		0.800 CausalMutation disease CLINVAR [Dystrophin gene analysis on 76 families with dystrophinopathy]. 12233050 2002
Entrez Id: 1756
Gene Symbol: DMD
DMD 		0.800 GeneticVariation disease UNIPROT Mutations in the dystrophin gene are associated with sporadic dilated cardiomyopathy. 12359139 2003
Entrez Id: 1756
Gene Symbol: DMD
DMD 		0.800 Biomarker disease BEFREE Mutations in the dystrophin gene result in both Duchenne and Becker muscular dystrophy (DMD and BMD), as well as X-linked dilated cardiomyopathy. 12632325 2003
Entrez Id: 1756
Gene Symbol: DMD
DMD 		0.800 GeneticVariation disease CLINVAR Pseudoexon activation in the DMD gene as a novel mechanism for Becker muscular dystrophy. 12754707 2003
Entrez Id: 1756
Gene Symbol: DMD
DMD 		0.800 CausalMutation disease CLINVAR Rapid direct sequence analysis of the dystrophin gene. 12632325 2003
Entrez Id: 1756
Gene Symbol: DMD
DMD 		0.800 GeneticVariation disease BEFREE We characterised a dystrophin gene rearrangement in a previously described family with X-linked dilated cardiomyopathy and we demonstrated that it represents an 11 kb deletion occurring within intron 11. 12853135 2003
Entrez Id: 7439
Gene Symbol: BEST1
BEST1 		0.030 Biomarker disease BEFREE Mutations in the dystrophin gene result in both Duchenne and Becker muscular dystrophy (DMD and BMD), as well as X-linked dilated cardiomyopathy. 12632325 2003
Entrez Id: 1756
Gene Symbol: DMD
DMD 		0.800 CausalMutation disease CLINVAR DGGE-based whole-gene mutation scanning of the dystrophin gene in Duchenne and Becker muscular dystrophy patients. 14695533 2004