DMD, dystrophin, 1756

N. diseases: 484; N. variants: 345
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs398124040
rs398124040
Entrez Id: 1756
Gene Symbol: DMD
DMD
CUI: C0013264
Disease:
Muscular Dystrophy, Duchenne
C 0.700 CausalMutation CLINVAR Genetic diagnosis of Duchenne/Becker muscular dystrophy using next-generation sequencing: validation analysis of DMD mutations. 26911353 2016
dbSNP: rs398124040
rs398124040
Entrez Id: 1756
Gene Symbol: DMD
DMD
CUI: C0013264
Disease:
Muscular Dystrophy, Duchenne
C 0.700 CausalMutation CLINVAR Novel mutations and polymorphisms in the human dystrophin gene detected by double-strand conformation analysis. 9067763 1997
dbSNP: rs398124040
rs398124040
Entrez Id: 1756
Gene Symbol: DMD
DMD
CUI: C0013264
Disease:
Muscular Dystrophy, Duchenne
C 0.700 CausalMutation CLINVAR Cannabis diagnosis of patients receiving treatment for cocaine dependence. 2136098 1990