Annotation Detail

Information
Associated Genes
PPARG
Associated Variants
PPARG MUTATION
PPARG MUTATION
Associated Disease
Acquired partial lipodystrophy
Source Database
DisGeNET
Description
To provide a broader context for how these mutations act to generate the clinical features of partial lipodystrophy we will review the basic biology of PPARγ and also survey the set PPARγ genetic variants that do not cause lipodystrophy, but are nonetheless associated with clinically related syndromes, specifically type 2 diabetes.
Pubmed
25460295
Section of the abstract supporting the evidence
ALL_TEXT
Number of the section of the abstract supporting the evidence
1
Number of the sentence supporting the evidence
2
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.00271441872080303
Drugs