Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1756
Gene Symbol: DMD
DMD
0.130 GeneticVariation disease BEFREE Because the DMD gene is located at Xp21.2, which is one breakpoint of the inv(X), and because its defects are rarely associated with severe mental retardation, the other clinical features of this patient were deemed likely to be associated with the opposite breakpoint at Xq22. 12145744 2002
Entrez Id: 1756
Gene Symbol: DMD
DMD
0.130 GeneticVariation disease BEFREE Complete skipping of exon 66 due to novel mutations of the dystrophin gene was identified in two Japanese families of Duchenne muscular dystrophy with severe mental retardation. 10722962 2000
Entrez Id: 1756
Gene Symbol: DMD
DMD
0.130 GeneticVariation disease BEFREE Severe mental retardation in a young boy with an in-frame deletion in the dystrophin gene. 7957365 1994
Entrez Id: 1756
Gene Symbol: DMD
DMD
0.130 Biomarker disease HPO