DMD, dystrophin, 1756

N. diseases: 484; N. variants: 345
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2931498
Disease: Mental Retardation, X-Linked 1
Mental Retardation, X-Linked 1
0.310 GeneticVariation disease BEFREE Four of these localizations cross the dystrophin brain promoter, a candidate locus for MRX. 1605217 1992
CUI: C2931498
Disease: Mental Retardation, X-Linked 1
Mental Retardation, X-Linked 1
0.310 GermlineCausalMutation disease ORPHANET A 3-base pair deletion, c.9711_9713del, in DMD results in intellectual disability without muscular dystrophy. 23900271 2014