Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5468
Gene Symbol: PPARG
PPARG 		0.980 CausalMutation disease CLINVAR
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: 63924
Gene Symbol: CIDEC
CIDEC 		0.300 Biomarker disease CTD_human
Entrez Id: 5346
Gene Symbol: PLIN1
PLIN1 		0.300 Biomarker disease CTD_human
Entrez Id: 3991
Gene Symbol: LIPE
LIPE 		0.300 Biomarker disease CTD_human
Entrez Id: 10269
Gene Symbol: ZMPSTE24
ZMPSTE24 		0.200 Biomarker disease MGD
Entrez Id: 100534595
Gene Symbol: HNRNPUL2-BSCL2
HNRNPUL2-BSCL2 		0.100 GeneticVariation disease CLINVAR
Entrez Id: 26580
Gene Symbol: BSCL2
BSCL2 		0.100 GeneticVariation disease CLINVAR
Entrez Id: 5468
Gene Symbol: PPARG
PPARG 		0.980 GeneticVariation disease BEFREE A novel PPARG mutation leading to FPLD3 is described. 26119484 2016
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 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 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: 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: 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: 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: 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 GeneticVariation disease CLINVAR Hypertension and abnormal fat distribution but not insulin resistance in mice with P465L PPARgamma. 15254591 2004
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: 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: 5468
Gene Symbol: PPARG
PPARG 		0.980 Biomarker disease BEFREE Moreover, PPARgamma haplo-insufficiency also exists in human known as a rare disease (FPLD3) causing metabolic adverse effects, similar to the mouse. 29163553 2017
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 CLINVAR Peroxisome proliferator-activated receptor-γ protects against vascular aging. 22461176 2012
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 GermlineCausalMutation disease ORPHANET PPARG F388L, a transactivation-deficient mutant, in familial partial lipodystrophy. 12453919 2002