LMNA, lamin A/C, 4000

N. diseases: 824; N. variants: 285
Disease: Muscular Dystrophy, Emery-Dreifuss ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs60458016
rs60458016
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0410189
Disease:
Muscular Dystrophy, Emery-Dreifuss 		0.010 GeneticVariation BEFREE Eight patients presented with either p.R249W/Q or p.E358K mutations and an early onset EDMD phenotype: two mutations recently associated with L-CMD. 20848652 2011