LMNA, lamin A/C, 4000

N. diseases: 824; N. variants: 285
Disease: Cardiomyopathy, Dilated ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs58917027
rs58917027
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0007193
Disease:
Cardiomyopathy, Dilated 		C 0.700 GeneticVariation CLINVAR Novel LMNA mutations in patients with Emery-Dreifuss muscular dystrophy and functional characterization of four LMNA mutations. 20848652 2011
dbSNP: rs58917027
rs58917027
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0007193
Disease:
Cardiomyopathy, Dilated 		C 0.700 GeneticVariation CLINVAR Autosomal dominant Emery-Dreifuss dystrophy due to mutations in rod domain of the lamin A/C gene. 10908904 2000
dbSNP: rs58917027
rs58917027
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0007193
Disease:
Cardiomyopathy, Dilated 		G 0.700 GeneticVariation CLINVAR