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: rs1556875224
rs1556875224
Entrez Id: 1756
Gene Symbol: DMD
DMD
CUI: C0013264
Disease:
Muscular Dystrophy, Duchenne 		T 0.700 CausalMutation CLINVAR A population-based study of dystrophin mutations in Canada. 21515508 2011
dbSNP: rs1556875224
rs1556875224
Entrez Id: 1756
Gene Symbol: DMD
DMD
CUI: C0013264
Disease:
Muscular Dystrophy, Duchenne 		T 0.700 CausalMutation CLINVAR One hundred twenty-one dystrophin point mutations detected from stored DNA samples by combinatorial denaturing high-performance liquid chromatography. 19959795 2010
dbSNP: rs1556875224
rs1556875224
Entrez Id: 1756
Gene Symbol: DMD
DMD
CUI: C0013264
Disease:
Muscular Dystrophy, Duchenne 		T 0.700 CausalMutation CLINVAR Protein- and mRNA-based phenotype-genotype correlations in DMD/BMD with point mutations and molecular basis for BMD with nonsense and frameshift mutations in the DMD gene. 17041906 2007