rs121908675, LARGE1

N. diseases: 1
Disease: Muscular Dystrophy, Congenital, Type 1D ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Muscular Dystrophy, Congenital, Type 1D
CUI: C1837229
Disease: Muscular Dystrophy, Congenital, Type 1D
0.800 GeneticVariation UNIPROT Consensus statement on standard of care for congenital muscular dystrophies. 21078917 2010
Muscular Dystrophy, Congenital, Type 1D
CUI: C1837229
Disease: Muscular Dystrophy, Congenital, Type 1D
0.800 GeneticVariation UNIPROT Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of alpha-dystroglycan. 12966029 2003
Muscular Dystrophy, Congenital, Type 1D
CUI: C1837229
Disease: Muscular Dystrophy, Congenital, Type 1D
0.800 CausalMutation CLINVAR