LMNA, lamin A/C, 4000

N. diseases: 824; N. variants: 285
Disease: Familial Partial Lipodystrophy, Type 1 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1720859
Disease: Familial Partial Lipodystrophy, Type 1
Familial Partial Lipodystrophy, Type 1 		0.510 Biomarker disease CTD_human Clinical characteristics and efficacy of pioglitazone in a Japanese diabetic patient with an unusual type of familial partial lipodystrophy. 19793595 2009
CUI: C1720859
Disease: Familial Partial Lipodystrophy, Type 1
Familial Partial Lipodystrophy, Type 1 		0.510 GeneticVariation disease ORPHANET Familial partial lipodystrophy associated with compound heterozygosity for novel mutations in the LMNA gene. 15298354 2004
CUI: C1720859
Disease: Familial Partial Lipodystrophy, Type 1
Familial Partial Lipodystrophy, Type 1 		0.510 Biomarker disease CTD_human Lack of mutations in LMNA, its promoter region, and the cellular retinoic acid binding protein II (CRABP II) in HIV associated lipodystrophy. 12844477 2003
CUI: C1720859
Disease: Familial Partial Lipodystrophy, Type 1
Familial Partial Lipodystrophy, Type 1 		0.510 Biomarker disease CTD_human Long-term treatment experience in a subject with Dunnigan-type familial partial lipodystrophy: efficacy of rosiglitazone. 16241930 2005
CUI: C1720859
Disease: Familial Partial Lipodystrophy, Type 1
Familial Partial Lipodystrophy, Type 1 		0.510 Biomarker disease CTD_human Response to treatment with rosiglitazone in familial partial lipodystrophy due to a mutation in the LMNA gene. 14510863 2003
CUI: C1720859
Disease: Familial Partial Lipodystrophy, Type 1
Familial Partial Lipodystrophy, Type 1 		0.510 GeneticVariation disease ORPHANET The heterozygous LMNA mutation p.R471G causes a variable phenotype with features of two types of familial partial lipodystrophy. 18041775 2007
CUI: C1720859
Disease: Familial Partial Lipodystrophy, Type 1
Familial Partial Lipodystrophy, Type 1 		0.510 GeneticVariation disease BEFREE The latter disorder is associated with mutations in the LMNA gene.FPLD1 is thought to be rare. 12766116 2003