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 AlteredExpression disease BEFREE Our report underlines the complexity of the pathogenic mechanism leading to X-linked dilated cardiomyopathy but suggests that differences in tissue-specific expression of dystrophin mutations may be a common feature in this condition. 9683584 1998
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 CausalMutation disease CLINVAR Three novel point mutations in the dystrophin gene in DMD patients. 9143930 1997
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 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 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 CausalMutation disease CLINVAR Dystrophin point mutation screening using a multiplexed protein truncation test. 10464635 1997
Entrez Id: 1756
Gene Symbol: DMD
DMD 		0.800 CausalMutation disease CLINVAR Seven novel additional small mutations and a new alternative splicing in the human dystrophin gene detected by heteroduplex analysis and restricted RT-PCR heteroduplex analysis of illegitimate transcripts. 8840119 1996
Entrez Id: 1756
Gene Symbol: DMD
DMD 		0.800 GeneticVariation disease UNIPROT Consistently, XLDCM patients have decreased levels of dystrophin in cardiac muscle. 25340340 2014
Entrez Id: 1756
Gene Symbol: DMD
DMD 		0.800 CausalMutation disease CLINVAR Novel mutations and polymorphisms in the human dystrophin gene detected by double-strand conformation analysis. 9067763 1997
Entrez Id: 1756
Gene Symbol: DMD
DMD 		0.800 Biomarker disease BEFREE Dystrophin has been identified as the gene responsible for X-linked dilated cardiomyopathy and this protein, which is also responsible for Duchenne and Becker muscular dystrophy, plays an important role in myocyte and cardiomyocyte function. 9484605 1998
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
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 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 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 A novel DMD splicing mutation found in a family responsible for X-linked dilated cardiomyopathy with hyper-CKemia. 29901616 2018
Entrez Id: 1756
Gene Symbol: DMD
DMD 		0.800 GeneticVariation disease BEFREE In vivo study of an aberrant dystrophin exon inclusion in X-linked dilated cardiomyopathy. 15094399 2004
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 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 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 Clinical and mutational characteristics of Duchenne muscular dystrophy patients based on a comprehensive database in South China. 28318817 2017
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 Biomarker disease BEFREE Cardiomyopathy is a leading cause of morbidity and mortality in both patients and carriers of DMD, BMD and X-linked dilated cardiomyopathy. 16987891 2006
Entrez Id: 1756
Gene Symbol: DMD
DMD 		0.800 CausalMutation disease CLINVAR Implementation of a Reliable Next-Generation Sequencing Strategy for Molecular Diagnosis of Dystrophinopathies. 27425820 2016
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