rs1556806356, DMD

N. diseases: 1
Disease: Muscular Dystrophy, Duchenne ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Muscular Dystrophy, Duchenne
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
0.700 CausalMutation CLINVAR DMD mutation spectrum analysis in 613 Chinese patients with dystrophinopathy. 25972034 2015
Muscular Dystrophy, Duchenne
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
0.700 CausalMutation CLINVAR New variants, challenges and pitfalls in DMD genotyping: implications in diagnosis, prognosis and therapy. 25007885 2014
Muscular Dystrophy, Duchenne
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
0.700 CausalMutation CLINVAR Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort. 19937601 2009
Muscular Dystrophy, Duchenne
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
0.700 CausalMutation CLINVAR Measurement of the clinical utility of a combined mutation detection protocol in carriers of Duchenne and Becker muscular dystrophy. 17259292 2007
Muscular Dystrophy, Duchenne
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
0.700 CausalMutation CLINVAR Entries in the Leiden Duchenne muscular dystrophy mutation database: an overview of mutation types and paradoxical cases that confirm the reading-frame rule. 16770791 2006