Disease: Muscular Dystrophy, Congenital, Type 1D ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908675
rs121908675
Entrez Id: 9215
Gene Symbol: LARGE1
LARGE1
CUI: C1837229
Disease:
Muscular Dystrophy, Congenital, Type 1D 		0.800 GeneticVariation UNIPROT Consensus statement on standard of care for congenital muscular dystrophies. 21078917 2010
dbSNP: rs121908675
rs121908675
Entrez Id: 9215
Gene Symbol: LARGE1
LARGE1
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
dbSNP: rs121908675
rs121908675
Entrez Id: 9215
Gene Symbol: LARGE1
LARGE1
CUI: C1837229
Disease:
Muscular Dystrophy, Congenital, Type 1D 		T 0.800 CausalMutation CLINVAR