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: rs770557781 ×

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

DSI _v

DPI _v

Chr

Position

Consequence

Alleles

Class

AF_EXOME

AF_GENOME

Disease

Disease Class

Score _vda

EI _vda

N. PMIDs

First Ref.

Last Ref.

dbSNP:

rs770557781

1.000

0.080

12433986

frameshift variant

C/-

delins

8.0E-06

CUI:	C1720861
Disease:	Familial Partial Lipodystrophy, Type 3

Familial Partial Lipodystrophy, Type 3

Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases

0.700