Source: ORPHANET

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C1720859
Disease: Familial Partial Lipodystrophy, Type 1
Familial Partial Lipodystrophy, Type 1 		0.510 GeneticVariation ORPHANET 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: C1720859
Disease: Familial Partial Lipodystrophy, Type 1
Familial Partial Lipodystrophy, Type 1 		0.510 GeneticVariation ORPHANET Familial partial lipodystrophy associated with compound heterozygosity for novel mutations in the LMNA gene. 15298354

2004