Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 208
Gene Symbol: AKT2
AKT2 		0.300 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
Entrez Id: 26580
Gene Symbol: BSCL2
BSCL2 		0.100 GeneticVariation disease CLINVAR
Entrez Id: 857
Gene Symbol: CAV1
CAV1 		0.300 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
Entrez Id: 63924
Gene Symbol: CIDEC
CIDEC 		0.300 Biomarker disease CTD_human
Entrez Id: 100534595
Gene Symbol: HNRNPUL2-BSCL2
HNRNPUL2-BSCL2 		0.100 GeneticVariation disease CLINVAR
Entrez Id: 3991
Gene Symbol: LIPE
LIPE 		0.300 Biomarker disease CTD_human
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		0.300 Biomarker disease CTD_human Response to treatment with rosiglitazone in familial partial lipodystrophy due to a mutation in the LMNA gene. 14510863 2003
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		0.300 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
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		0.300 Biomarker disease CTD_human Long-term treatment experience in a subject with Dunnigan-type familial partial lipodystrophy: efficacy of rosiglitazone. 16241930 2005
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		0.300 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
Entrez Id: 5346
Gene Symbol: PLIN1
PLIN1 		0.300 Biomarker disease CTD_human
Entrez Id: 5468
Gene Symbol: PPARG
PPARG 		0.980 GeneticVariation disease UNIPROT A novel heterozygous mutation in peroxisome proliferator-activated receptor-gamma gene in a patient with familial partial lipodystrophy. 11788685 2002
Entrez Id: 5468
Gene Symbol: PPARG
PPARG 		0.980 CausalMutation disease CLINVAR
Entrez Id: 5468
Gene Symbol: PPARG
PPARG 		0.980 GeneticVariation disease CLINVAR Rare variants in PPARG with decreased activity in adipocyte differentiation are associated with increased risk of type 2 diabetes. 25157153 2014
Entrez Id: 5468
Gene Symbol: PPARG
PPARG 		0.980 GeneticVariation disease CLINVAR Dominant negative mutations in human PPARgamma associated with severe insulin resistance, diabetes mellitus and hypertension. 10622252 2000
Entrez Id: 5468
Gene Symbol: PPARG
PPARG 		0.980 AlteredExpression disease BEFREE We will present several gene-gene and gene-environment factors and mechanisms that are critical for adequate PPARγ expression and activity in AT and discuss how these interactions potentially contribute to the observed spectrum of FPLD3 phenotypes. 30742913 2019
Entrez Id: 5468
Gene Symbol: PPARG
PPARG 		0.980 GeneticVariation disease CLINVAR Peroxisome proliferator-activated receptor-γ protects against vascular aging. 22461176 2012
Entrez Id: 5468
Gene Symbol: PPARG
PPARG 		0.980 GermlineCausalMutation disease ORPHANET A novel heterozygous mutation in peroxisome proliferator-activated receptor-gamma gene in a patient with familial partial lipodystrophy. 11788685 2002
Entrez Id: 5468
Gene Symbol: PPARG
PPARG 		0.980 GeneticVariation disease CLINVAR Hypertension and abnormal fat distribution but not insulin resistance in mice with P465L PPARgamma. 15254591 2004
Entrez Id: 5468
Gene Symbol: PPARG
PPARG 		0.980 Biomarker disease MGD
Entrez Id: 5468
Gene Symbol: PPARG
PPARG 		0.980 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 5468
Gene Symbol: PPARG
PPARG 		0.980 GeneticVariation disease UNIPROT PPARG F388L, a transactivation-deficient mutant, in familial partial lipodystrophy. 12453919 2002
Entrez Id: 5468
Gene Symbol: PPARG
PPARG 		0.980 Biomarker disease BEFREE Vascular placental abnormalities and newborn death in a pregnant diabetic woman with familial partial lipodystrophy type 3: a possible role for peroxisome proliferator-activated receptor γ. 22559930 2012
Entrez Id: 5468
Gene Symbol: PPARG
PPARG 		0.980 GeneticVariation disease BEFREE Patient 1 suffered for 18 years from devastating complications of undiagnosed type 3 familial partial lipodystrophy due to a deleterious heterozygous variant in PPARG. 31000363 2019
Entrez Id: 5468
Gene Symbol: PPARG
PPARG 		0.980 GeneticVariation disease BEFREE Taken together with previous studies of human PPARG mutations, these findings suggest that PPAR-gamma deficiency due either to haploinsufficiency or to substantial activity loss due to dominant negative interference of the normal allele product's function can each contribute to the FPLD3 phenotype. 16412238 2006