Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
0.010 GeneticVariation BEFREE Homozygous lamin A/C familial lipodystrophy R482Q mutation in autosomal recessive Emery Dreifuss muscular dystrophy. 23313286 2013