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: rs61672878
rs61672878
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0410189
Disease:
Muscular Dystrophy, Emery-Dreifuss 		0.010 GeneticVariation BEFREE We have studied the expression and the localization of nuclear envelope proteins in three different cell types and muscle tissue of an AD-EDMD patient carrying a point mutation R377H in the lamin A/C gene. 15053843 2004