DMD, dystrophin, 1756

N. diseases: 484; N. variants: 345
Disease: Muscular Dystrophy, Duchenne ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs398122853
rs398122853
Entrez Id: 1756
Gene Symbol: DMD
DMD
CUI: C0013264
Disease:
Muscular Dystrophy, Duchenne 		T 0.700 CausalMutation CLINVAR The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States. 27708273 2017
dbSNP: rs398122853
rs398122853
Entrez Id: 1756
Gene Symbol: DMD
DMD
CUI: C0013264
Disease:
Muscular Dystrophy, Duchenne 		T 0.700 CausalMutation CLINVAR DMD exon 1 truncating point mutations: amelioration of phenotype by alternative translation initiation in exon 6. 19206170 2009
dbSNP: rs398122853
rs398122853
Entrez Id: 1756
Gene Symbol: DMD
DMD
CUI: C0013264
Disease:
Muscular Dystrophy, Duchenne 		T 0.700 CausalMutation CLINVAR DMD Trp3X nonsense mutation associated with a founder effect in North American families with mild Becker muscular dystrophy. 19793655 2009