Source: LHGDN

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0271694
Disease: Familial partial lipodystrophy
Familial partial lipodystrophy 		0.600 GeneticVariation LHGDN The heterozygous LMNA mutation p.R471G causes a variable phenotype with features of two types of familial partial lipodystrophy. 18041775

2007
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0271694
Disease: Familial partial lipodystrophy
Familial partial lipodystrophy 		0.600 GeneticVariation LHGDN Familial partial lipodystrophy associated with compound heterozygosity for novel mutations in the LMNA gene. 15298354

2004
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0271694
Disease: Familial partial lipodystrophy
Familial partial lipodystrophy 		0.600 GeneticVariation LHGDN Failure of lamin A/C to functionally assemble in R482L mutated familial partial lipodystrophy fibroblasts: altered intermolecular interaction with emerin and implications for gene transcription. 14597414

2003
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0271694
Disease: Familial partial lipodystrophy
Familial partial lipodystrophy 		0.600 GeneticVariation LHGDN LMNA mutations in nondiabetic patients with FPLD are associated with several metabolic and biochemical changes, particularly in women. 12524233

2003
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0271694
Disease: Familial partial lipodystrophy
Familial partial lipodystrophy 		0.600 GeneticVariation LHGDN 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