DisGeNET - a database of gene-disease associations

PPARG, peroxisome proliferator activated receptor gamma, 5468

N. diseases: 877; N. variants: 101

Disease: Familial Partial Lipodystrophy, Type 3 ×

Variant: rs72551364 ×

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs72551364

Entrez Id:	5468
Gene Symbol:	PPARG

PPARG

CUI:	C1720861
Disease:

Familial Partial Lipodystrophy, Type 3

0.800

GeneticVariation

UNIPROT

PPARG F388L, a transactivation-deficient mutant, in familial partial lipodystrophy.

12453919

2002

dbSNP:

rs72551364

Entrez Id:	5468
Gene Symbol:	PPARG

PPARG

CUI:	C1720861
Disease:

Familial Partial Lipodystrophy, Type 3

0.800

GeneticVariation

UNIPROT

A novel heterozygous mutation in peroxisome proliferator-activated receptor-gamma gene in a patient with familial partial lipodystrophy.

11788685

2002

dbSNP:

rs72551364

Entrez Id:	5468
Gene Symbol:	PPARG

PPARG

CUI:	C1720861
Disease:

Familial Partial Lipodystrophy, Type 3

0.800

CausalMutation

CLINVAR