rs398123942, 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 Mutational spectrum of Duchenne muscular dystrophy in Spain: Study of 284 cases. 26968818 2018
Muscular Dystrophy, Duchenne
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
0.700 CausalMutation CLINVAR Targeted next-generation sequencing as a comprehensive test for patients with and female carriers of DMDBMD: a multi-population diagnostic study. 23756440 2014
Muscular Dystrophy, Duchenne
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
0.700 CausalMutation CLINVAR Clinical and molecular characterization of a cohort of patients with novel nucleotide alterations of the Dystrophin gene detected by direct sequencing. 21396098 2011
Muscular Dystrophy, Duchenne
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
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
Muscular Dystrophy, Duchenne
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
0.700 CausalMutation CLINVAR Mutation spectrum of the dystrophin gene in 442 Duchenne/Becker muscular dystrophy cases from one Japanese referral center. 20485447 2010
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 Dystrophin nonsense mutations can generate alternative rescue transcripts in lymphocytes. 18652600 2008