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: rs57520892
rs57520892
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0410189
Disease:
Muscular Dystrophy, Emery-Dreifuss 		0.020 GeneticVariation BEFREE Some mutations (c.91G>A, c.94_96delAAG, c.116A>G, c.745C>T, c.746G>A, and c.1580G>C) were well correlated with EDMD or L-CMD. 26098624 2015
dbSNP: rs57520892
rs57520892
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0410189
Disease:
Muscular Dystrophy, Emery-Dreifuss 		0.020 GeneticVariation BEFREE Three such point mutations, G465D (FPLD), R482L, (FPLD), or R527P (EDMD), were introduced by site-specific mutagenesis in the C-terminal tail domain of a FLAG-tagged full-length lamin A construct. 12729796 2003