Annotation Detail
Information
- Associated Genes
- PPARA
- Associated Variants
-
PPARA p.Leu162Val (p.L162V)
(
ENST00000402126.2,
ENST00000407236.6 )
PPARA p.Leu162Val (p.L162V) ( ENST00000402126.2, ENST00000407236.6 ) - Associated Disease
- lipodystrophy
- Source Database
- DisGeNET
- Description
- The rare g allele for L162V was found in 15% of patients free of any sign of lipodystrophy and 8% with at least one sign of lipodystrophy (p=0.04) and the rare t allele for H449H was found in 14% of patients free of any sign of lipodystrophy and 23% of patients with at least one sign of lipodystrophy (p=0.05).
- Pubmed
- 21877956
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000542883744160607
- Year of publication
- 2012
Drugs