Variant Gene Disease Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs57520892
rs57520892
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
0.800 CausalMutation CLINVAR Germinal mosaicism for LMNA mimics autosomal recessive congenital muscular dystrophy. 19084400

2009

dbSNP: rs57520892
rs57520892
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
0.800 CausalMutation CLINVAR Lamin A/C mutations with lipodystrophy, cardiac abnormalities, and muscular dystrophy. 12196663

2002

dbSNP: rs57520892
rs57520892
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
0.800 CausalMutation CLINVAR Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy. 10080180

1999

dbSNP: rs57520892
rs57520892
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
0.800 GeneticVariation UNIPROT