Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
0.200 GeneticVariation CLINVAR Gender-specific differences in major cardiac events and mortality in lamin A/C mutation carriers. 23183350

2013

Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
0.200 CausalMutation CLINVAR Overlapping syndrome with familial partial lipodystrophy, Dunnigan variety and cardiomyopathy due to amino-terminal heterozygous missense lamin A/C mutations. 20041886

2010

Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
0.200 CausalMutation CLINVAR Post-mortem findings in familial partial lipodystrophy, Dunnigan variety. 12647844

2002

Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
0.200 CausalMutation CLINVAR Novel genetic defects in the LMNA gene in two families with the Dunnigan variety of familial partial lipodystrophy, cardiac conduction system defects, and other manifestations related to cardiomyopathy suggest the occurrence of a multisystem dystrophy syndrome due to LMNA mutations. 12015247

2002