Disease: Familial partial lipodystrophy ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs72551364
rs72551364
Entrez Id: 5468
Gene Symbol: PPARG
PPARG
CUI: C0271694
Disease:
Familial partial lipodystrophy 		0.020 GeneticVariation BEFREE Impaired peroxisome proliferator-activated receptor gamma function through mutation of a conserved salt bridge (R425C) in familial partial lipodystrophy. 17312272 2007
dbSNP: rs72551364
rs72551364
Entrez Id: 5468
Gene Symbol: PPARG
PPARG
CUI: C0271694
Disease:
Familial partial lipodystrophy 		0.020 GeneticVariation BEFREE We conclude that heterozygous, R425C, mutation in PPARG could be the molecular basis for one of the familial partial lipodystrophy phenotypes. 11788685 2002
dbSNP: rs1354592503
rs1354592503
Entrez Id: 5468
Gene Symbol: PPARG
PPARG
CUI: C0271694
Disease:
Familial partial lipodystrophy 		0.010 GeneticVariation 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
dbSNP: rs72551363
rs72551363
Entrez Id: 5468
Gene Symbol: PPARG
PPARG
CUI: C0271694
Disease:
Familial partial lipodystrophy 		0.010 GeneticVariation BEFREE PPARG F388L, a transactivation-deficient mutant, in familial partial lipodystrophy. 12453919 2002