Annotation Detail

Information
Associated Genes
ESR2
Associated Variants
ESR2 p.Val328= (p.V328=) ( ENST00000556275.5, ENST00000553796.5, ENST00000353772.7, ENST00000341099.6, ENST00000554572.5, ENST00000555278.5, ENST00000557772.5, ENST00000358599.9, ENST00000267525.10 )
ESR2 p.Val328= (p.V328=) ( ENST00000267525.10, ENST00000341099.6, ENST00000353772.7, ENST00000358599.9, ENST00000553796.5, ENST00000554572.5, ENST00000555278.5, ENST00000556275.5, ENST00000557772.5 )
Associated Disease
Degenerative polyarthritis
Source Database
DisGeNET
Description
The rs1256049 polymorphism of the estrogen receptor-β gene can potentially be used to identify genetically high-risk subgroup of osteoarthritis in advance and to understand pathogenesis of osteoarthritis.
Pubmed
23352710
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.00581983144552528
Year of publication
2012
Drugs