Annotation Detail
Information
- Associated Genes
- NPC1
- Associated Variants
-
NPC1 p.His215Arg (p.H215R)
(
ENST00000269228.10 )
NPC1 p.His215Arg (p.H215R) ( ENST00000269228.10 ) - Associated Disease
- obesity
- Source Database
- DisGeNET
- Description
- [In addition to FTO and MC4R, we detected significant association of obesity with three new risk loci in NPC1 (endosomal/lysosomal Niemann-Pick C1 gene, P = 2.9 x 10(-7)), near MAF (encoding the transcription factor c-MAF, P = 3.8 x 10(-13)) and near PTER (phosphotriesterase-related gene, P = 2.1 x 10(-7)).]
- Pubmed
- 19151714
- Original source reporting the Gene Disease association
- GAD
- DisGENET score for the Gene Disease association
- 0.25136822101897
- Year of publication
- 2009
Drugs