Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0271694
Disease: Familial partial lipodystrophy
Familial partial lipodystrophy
0.600 Biomarker disease BEFREE Efficacy of Metreleptin Treatment in Familial Partial Lipodystrophy Due to PPARG vs LMNA Pathogenic Variants. 31194872 2019
CUI: C0271694
Disease: Familial partial lipodystrophy
Familial partial lipodystrophy
0.600 Biomarker disease BEFREE We have identified various pathogenic variants scattered throughout the LMNA and PPARG genes in Turkish patients with FPLD. 28641778 2017
CUI: C0271694
Disease: Familial partial lipodystrophy
Familial partial lipodystrophy
0.600 Biomarker disease BEFREE In the acquired forms, genes such as LMNA, PPARG, CIDEC (cell-death-inducing DNA fragmentation factor a-like effector c) and PLIN1 are heavily involved in familial partial lipodystrophy (FPLD) type 2 (also known as the Dunnigan-Variety) and WRN along with RECQL5 in Werner Syndrome (WS). 24152769 2014
CUI: C0271694
Disease: Familial partial lipodystrophy
Familial partial lipodystrophy
0.600 GeneticVariation disease BEFREE Inactivating peroxisome proliferator-activated receptor-γ (PPARγ) mutations lead to a syndrome of familial partial lipodystrophy (FPLD3) associated with early-onset severe hypertension. 23393388 2013
CUI: C0271694
Disease: Familial partial lipodystrophy
Familial partial lipodystrophy
0.600 GeneticVariation disease BEFREE In three of these patients the clinical diagnosis of FPLD was confirmed by the presence of mutations in LMNA or PPARG; one patient harboured a novel heterozygous mutation (Y151C) in PPARG. 21479595 2011
CUI: C0271694
Disease: Familial partial lipodystrophy
Familial partial lipodystrophy
0.600 Biomarker disease CTD_human Sequencing of candidate genes LMNA, PPARG, AKT2, caveolin-1, as well as the PPARG4 promoter gene, which are known to be associated with familial partial lipodystrophy, revealed no genetic abnormalities, suggesting that this case may involve a novel gene. 19793595 2009
CUI: C0271694
Disease: Familial partial lipodystrophy
Familial partial lipodystrophy
0.600 GeneticVariation disease BEFREE Familial partial lipodystrophy is a rare but characteristic phenotype associated with carriers of peroxisome proliferator-activated receptor-gamma missense mutations. 18388689 2008
CUI: C0271694
Disease: Familial partial lipodystrophy
Familial partial lipodystrophy
0.600 GeneticVariation disease LHGDN In two patients with familial partial lipodystrophy, we identified a nucleotide substitution in the PPARG gene. 17766367 2007
CUI: C0271694
Disease: Familial partial lipodystrophy
Familial partial lipodystrophy
0.600 GeneticVariation disease BEFREE Familial partial lipodystrophy phenotype resulting from a single-base mutation in deoxyribonucleic acid-binding domain of peroxisome proliferator-activated receptor-gamma. 17299075 2007
CUI: C0271694
Disease: Familial partial lipodystrophy
Familial partial lipodystrophy
0.600 Biomarker disease BEFREE The associated mutant gene products include 1) nuclear lamin A in FPLD type 2 and MAD type A; 2) nuclear lamin B2 in APL; 3) nuclear hormone receptor peroxisome proliferator-activated receptor gamma in FPLD type 3; 4) lipid biosynthetic enzyme 1-acylglycerol-3-phosphate O-acyltransferase 2 in CGL type 1; 5) integral endoplasmic reticulum membrane protein seipin in CGL type 2; and 6) metalloproteinase ZMPSTE24 in MAD type B. 17374881 2007
CUI: C0271694
Disease: Familial partial lipodystrophy
Familial partial lipodystrophy
0.600 GeneticVariation disease BEFREE Mutations in PPARG are associated with insulin resistance and familial partial lipodystrophy, a disease characterized by altered distribution of sc fat and symptoms of the metabolic syndrome. 17356052 2007
CUI: C0271694
Disease: Familial partial lipodystrophy
Familial partial lipodystrophy
0.600 GeneticVariation disease BEFREE A heterozygous mutation in the PPARG gene, which changes an arginine residue at position 425 into a cysteine (R425C), has been reported in a patient with familial partial lipodystrophy subtype 3 (FPLD3). 17312272 2007
CUI: C0271694
Disease: Familial partial lipodystrophy
Familial partial lipodystrophy
0.600 GeneticVariation disease BEFREE One example is familial partial lipodystrophy (FPLD), a rare monogenic form of insulin resistance caused by mutations in either LMNA, encoding nuclear lamin A/C (subtype FPLD2), or in PPARG, encoding peroxisomal proliferator-activated receptor-gamma (subtype FPLD3). 15890790 2005
CUI: C0271694
Disease: Familial partial lipodystrophy
Familial partial lipodystrophy
0.600 GeneticVariation disease BEFREE Familial partial lipodystrophy (FPLD) results from coding sequence mutations either in LMNA, encoding nuclear lamin A/C, or in PPARG, encoding peroxisome proliferator-activated receptor gamma (PPARgamma). 15531525 2004
CUI: C0271694
Disease: Familial partial lipodystrophy
Familial partial lipodystrophy
0.600 Biomarker disease BEFREE We studied peroxisome proliferator-activated receptor-gamma (PPARgamma) gene as a candidate gene in seven FPL patients who did not appear to have Dunnigan variety. 11788685 2002
CUI: C0271694
Disease: Familial partial lipodystrophy
Familial partial lipodystrophy
0.600 GeneticVariation disease BEFREE PPARG F388L, a transactivation-deficient mutant, in familial partial lipodystrophy. 12453919 2002
CUI: C0271694
Disease: Familial partial lipodystrophy
Familial partial lipodystrophy
0.600 Biomarker disease MGD