Source: INFERRED

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C1720860
Disease: Familial Partial Lipodystrophy, Type 2
Familial Partial Lipodystrophy, Type 2 		0.800 CausalMutation CLINVAR A homozygous mutation of prelamin-A preventing its farnesylation and maturation leads to a severe lipodystrophic phenotype: new insights into the pathogenicity of nonfarnesylated prelamin-A. 21346069

2011
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C1720860
Disease: Familial Partial Lipodystrophy, Type 2
Familial Partial Lipodystrophy, Type 2 		0.800 CausalMutation CLINVAR New metabolic phenotypes in laminopathies: LMNA mutations in patients with severe metabolic syndrome. 17711925

2007
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C1720860
Disease: Familial Partial Lipodystrophy, Type 2
Familial Partial Lipodystrophy, Type 2 		0.800 GeneticVariation CLINVAR