DMD, dystrophin, 1756

N. diseases: 484; N. variants: 345
Disease: Muscular Dystrophy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.500 GeneticVariation disease CLINVAR
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.500 Biomarker disease HPO
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.500 Biomarker disease BEFREE Muscular dystrophies involving the dystrophin-glycoprotein complex: an overview of current mouse models. 12076680 2002
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.500 Biomarker disease BEFREE Muscular dystrophy is frequently caused by disruption of the dystrophin-glycoprotein complex (DGC), which links muscle cells to the extracellular matrix. 12091319 2002
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.500 Biomarker disease BEFREE Muscular dystrophies and the dystrophin-glycoprotein complex. 9146999 1997
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.500 Biomarker disease BEFREE Dystrophin and muscular dystrophy: past, present, and future. 11592805 2001
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.500 GeneticVariation disease BEFREE Dystrophin gene mutations cause 2 common muscular dystrophies, Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD). 16246949 2005
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.500 AlteredExpression disease BEFREE Dystrophin levels as low as 30% are sufficient to avoid muscular dystrophy in the human. 17826093 2007
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.500 Biomarker disease BEFREE Dystrophin immunofluorescence pattern in manifesting and asymptomatic carriers of Duchenne's and Becker muscular dystrophies of different ages. 1822792 1991
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.500 Biomarker disease BEFREE Dystrophin is the gene product of the Duchenne (DMD) and Becker (BMD) muscular dystrophy gene locus on the short arm of the X chromosome. 1944822 1991
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.500 GeneticVariation disease BEFREE Dystrophin analysis in the differential diagnosis of autosomal recessive muscular dystrophy of childhood and Duchenne muscular dystrophy. 2206159 1990
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.500 Biomarker disease BEFREE Dystrophin-deficient Duchenne cardiomyopathy is associated with Duchenne muscular dystrophy (DMD), the most common lethal muscular dystrophy. 22318092 2012
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.500 Biomarker disease BEFREE Dystrophin-deficient muscular dystrophies (dystrophinopathies) are the most common form of muscular dystrophy, with variable clinical phenotypes ranging from the severe Duchenne (DMD) to the milder Becker (BMD) forms. 23790620 2013
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.500 Biomarker disease BEFREE Dystrophin-related muscular dystrophies. 2571631 1989
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.500 Biomarker disease BEFREE Dystrophin hydrophobic regions in the pathogenesis of Duchenne and Becker muscular dystrophies. 26042512 2015
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.500 Biomarker disease BEFREE Dystrophin and the two related genetic diseases, Duchenne and Becker muscular dystrophies. 26295289 2015
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.500 Biomarker disease BEFREE Dystrophin analysis in the diagnosis of muscular dystrophy. 2684033 1989
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.500 Biomarker disease BEFREE Dystrophin/utrophin double-knockout (dKO) mice develop a more severe and progressive muscular dystrophy than the mdx mice, the most common murine model of Duchenne muscular dystrophy (DMD). 29078808 2017
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.500 GeneticVariation disease BEFREE Dystrophin gene deletions account for up to 68% of all Duchenne (DMD) and Becker (BMD) muscular dystrophy mutations. 7510932 1993
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.500 Biomarker disease BEFREE Dystrophin, the protein product of the Duchenne muscular dystrophy (DMD) gene, was studied in 19 patients with Xp21 disorders and in 25 individuals with non-Xp21 muscular dystrophy. 8429320 1993
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.500 Biomarker disease BEFREE Dystrophin-associated proteins and the muscular dystrophies. 9046976 1997
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.500 Biomarker disease BEFREE Dystrophin is bound to a complex of proteins in the muscle membrane, and primary abnormalities of these proteins have now been identified as the cause of some autosomally inherited forms of muscular dystrophy. 9259292 1997
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.500 GeneticVariation disease BEFREE A <i>De novo</i> Mutation in Dystrophin Causing Muscular Dystrophy in a Female Patient. 28937030 2017
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.500 GeneticVariation disease BEFREE A Japanese family with two types of muscular dystrophy: DNA analysis and the dystrophin test. 1875028 1991
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.500 GeneticVariation disease BEFREE A large variety of mutations in the dystrophin gene cause Duchenne and Becker muscular dystrophies, diseases affecting predominantly the striated muscles (skeletal and cardiac). 23116935 2013