Disease: Familial Partial Lipodystrophy, Type 3 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121909244
rs121909244
Entrez Id: 5468
Gene Symbol: PPARG
PPARG
CUI: C1720861
Disease:
Familial Partial Lipodystrophy, Type 3 		T 0.700 GeneticVariation CLINVAR Rare variants in PPARG with decreased activity in adipocyte differentiation are associated with increased risk of type 2 diabetes. 25157153 2014
dbSNP: rs121909244
rs121909244
Entrez Id: 5468
Gene Symbol: PPARG
PPARG
CUI: C1720861
Disease:
Familial Partial Lipodystrophy, Type 3 		T 0.700 GeneticVariation CLINVAR Peroxisome proliferator-activated receptor-γ protects against vascular aging. 22461176 2012
dbSNP: rs121909244
rs121909244
Entrez Id: 5468
Gene Symbol: PPARG
PPARG
CUI: C1720861
Disease:
Familial Partial Lipodystrophy, Type 3 		T 0.700 GeneticVariation CLINVAR Hypertension and abnormal fat distribution but not insulin resistance in mice with P465L PPARgamma. 15254591 2004
dbSNP: rs121909244
rs121909244
Entrez Id: 5468
Gene Symbol: PPARG
PPARG
CUI: C1720861
Disease:
Familial Partial Lipodystrophy, Type 3 		T 0.700 GeneticVariation CLINVAR Dominant negative mutations in human PPARgamma associated with severe insulin resistance, diabetes mellitus and hypertension. 10622252 2000
dbSNP: rs121909244
rs121909244
Entrez Id: 5468
Gene Symbol: PPARG
PPARG
CUI: C1720861
Disease:
Familial Partial Lipodystrophy, Type 3 		T 0.700 CausalMutation CLINVAR