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 identifies three new susceptibility loci for Paget's disease of bone.
Pubmed
21623375
Original source reporting the Gene Disease association
GWASCAT
DisGENET score for the Gene Disease association
0.122367031978602
Year of publication
2011
Drugs