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
To investigate the possible influence of the single nucleotide polymorphism (SNP) of the estrogen receptor-β gene, rs1256049 (Rsa) in exon 5, on the frequency of rheumatoid arthritis (RA), 263 RA patients and 174 control subjects with osteoarthritis (OA) were recruited.
Pubmed
21523342
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.00581983144552528
Year of publication
2012
Drugs