Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1756
Gene Symbol: DMD
DMD
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne
1.000 Biomarker GENOMICS_ENGLAND The patient makes a dystrophin protein which is properly localized and is present at a higher level than is observed in DMD patients. 8401582

1993

Entrez Id: 1756
Gene Symbol: DMD
DMD
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne
1.000 Biomarker GENOMICS_ENGLAND [Intestinal pseudo-obstruction secondary to systemic neuropathies and myopathies]. 7999513

1994

Entrez Id: 1756
Gene Symbol: DMD
DMD
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne
1.000 GeneticVariation UNIPROT A muscle biopsy from an X-linked muscular dystrophy pedigree showed normal dystrophin and dystrophin-associated proteins. 9851445

1998

Entrez Id: 1756
Gene Symbol: DMD
DMD
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne
1.000 GeneticVariation UNIPROT Rapid direct sequence analysis of the dystrophin gene. 12632325

2003

Entrez Id: 1756
Gene Symbol: DMD
DMD
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne
1.000 GeneticVariation UNIPROT A cysteine 3340 substitution in the dystroglycan-binding domain of dystrophin associated with Duchenne muscular dystrophy, mental retardation and absence of the ERG b-wave. 8817332

1996

Entrez Id: 1756
Gene Symbol: DMD
DMD
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne
1.000 GeneticVariation UNIPROT Identification of a missense mutation, single base deletion and a polymorphism in the dystrophin exon 16. 7981690

1994

Entrez Id: 1756
Gene Symbol: DMD
DMD
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne
1.000 GeneticVariation UNIPROT The ZZ domain of dystrophin in DMD: making sense of missense mutations. 24302611

2014

Entrez Id: 1756
Gene Symbol: DMD
DMD
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne
1.000 GeneticVariation UNIPROT The patient makes a dystrophin protein which is properly localized and is present at a higher level than is observed in DMD patients. 8401582

1993

Entrez Id: 1756
Gene Symbol: DMD
DMD
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne
1.000 Biomarker RGD Characterization of dystrophin deficient rats: a new model for Duchenne muscular dystrophy. 25310701

2014

Entrez Id: 1756
Gene Symbol: DMD
DMD
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne
1.000 Biomarker RGD Duchenne muscular dystrophy (DMD) is an X-linked lethal muscle disorder caused by mutations in the Dmd gene encoding Dystrophin. 25005781

2014

Entrez Id: 1756
Gene Symbol: DMD
DMD
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne
1.000 GermlineCausalMutation ORPHANET

Entrez Id: 1756
Gene Symbol: DMD
DMD
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne
1.000 Biomarker MGD mdxCv3 mouse is a model for electroretinography of Duchenne/Becker muscular dystrophy. 7843915

1995

Entrez Id: 1756
Gene Symbol: DMD
DMD
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne
1.000 Biomarker MGD Dmd(mdx-beta geo): a new allele for the mouse dystrophin gene. 9626497

1998

Entrez Id: 1756
Gene Symbol: DMD
DMD
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne
1.000 Biomarker MGD Duchenne muscular dystrophy (DMD) is an X-linked recessive genetic disease caused by mutations in the gene coding for the protein dystrophin. 20705734

2010

Entrez Id: 1756
Gene Symbol: DMD
DMD
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne
1.000 Biomarker MGD mdx(⁵cv) mice manifest more severe muscle dysfunction and diaphragm force deficits than do mdx Mice. 21893021

2011

Entrez Id: 1756
Gene Symbol: DMD
DMD
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne
1.000 Biomarker MGD Deletions of exon 50 of the dystrophin gene are among the most common single exon deletions causing DMD. 29187645

2017

Entrez Id: 1756
Gene Symbol: DMD
DMD
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne
1.000 Biomarker MGD The frequency of revertants in mdx mouse genetic models for Duchenne muscular dystrophy. 1635838

1992

Entrez Id: 1756
Gene Symbol: DMD
DMD
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne
1.000 Biomarker MGD Muscle fiber growth and necrosis in dystrophic muscles: a comparative study between dy and mdx mice. 3440862

1987

Entrez Id: 1756
Gene Symbol: DMD
DMD
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne
1.000 Biomarker MGD Exon 52 of the dystrophin gene was disrupted, because the deletion of this exon is known to result in the DMD phenotype in human. 9299538

1997

Entrez Id: 1756
Gene Symbol: DMD
DMD
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne
1.000 Biomarker MGD Genetic background affects properties of satellite cells and mdx phenotypes. 20304955

2010

Entrez Id: 1756
Gene Symbol: DMD
DMD
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne
1.000 Biomarker MGD The pituitary-muscle axis in mdx dystrophic mice. 8064326

1994

Entrez Id: 1756
Gene Symbol: DMD
DMD
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne
1.000 Biomarker MGD Sodium is elevated in mdx muscles: ionic interactions in dystrophic cells. 8433102

1993

Entrez Id: 1756
Gene Symbol: DMD
DMD
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne
1.000 Biomarker MGD Since production of multiple dystrophin isoforms due to alternative splicing or exon skipping is totally prevented in the DMD-null mouse, these new mutants will provide an improved model system for functional studies of dystrophin and its isoforms. 15694376

2005

Entrez Id: 1756
Gene Symbol: DMD
DMD
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne
1.000 Biomarker MGD The first exon duplication mouse model of Duchenne muscular dystrophy: A tool for therapeutic development. 26365037

2015

Entrez Id: 1756
Gene Symbol: DMD
DMD
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne
1.000 Biomarker MGD Recovery of induced mutations for X chromosome-linked muscular dystrophy in mice. 2919177

1989