Source: UNIPROT

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 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 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 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 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 patient makes a dystrophin protein which is properly localized and is present at a higher level than is observed in DMD patients. 8401582

1993