Annotation Detail
Information
- Associated Genes
- OPTN
- Associated Variants
-
OPTN c.552+1091T>C
(
ENST00000378764.6,
ENST00000378752.7,
ENST00000378757.6,
ENST00000378747.8,
ENST00000263036.9,
ENST00000378748.7 )
OPTN c.552+1091T>C ( ENST00000263036.9, ENST00000378747.8, ENST00000378748.7, ENST00000378752.7, ENST00000378757.6, ENST00000378764.6 ) - Associated Disease
- Paget's Disease
- Source Database
- DisGeNET
- Description
- Genome-wide association study identifies variants at CSF1, OPTN and TNFRSF11A as genetic risk factors for Paget's disease of bone.
- Pubmed
- 20436471
- Original source reporting the Gene Disease association
- GWASCAT
- DisGENET score for the Gene Disease association
- 0.122367031978602
- Year of publication
- 2010
Drugs