Annotation Detail
Information
- Associated Genes
- PPARG
- Associated Variants
-
PPARG MUTATION
PPARG MUTATION - Associated Disease
- Familial generalized lipodystrophy
- Source Database
- DisGeNET
- Description
- Biallelic mutations at PPARG cause a congenital, generalized lipodystrophy similar to the Berardinelli-Seip syndrome.
- Pubmed
- 24980513
- Section of the abstract supporting the evidence
- TITLE
- Number of the section of the abstract supporting the evidence
- 0
- Number of the sentence supporting the evidence
- 0
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000542883744160607
Drugs