Annotation Detail

Information
Associated Genes
ESR2
Associated Variants
ESR2 c.*39G>A ( ENST00000556275.5, ENST00000553796.5, ENST00000555278.5, ENST00000353772.7, ENST00000341099.6, ENST00000554572.5, ENST00000557772.5, ENST00000267525.10, ENST00000358599.9 )
ESR2 c.*39G>A ( ENST00000267525.10, ENST00000341099.6, ENST00000353772.7, ENST00000358599.9, ENST00000553796.5, ENST00000554572.5, ENST00000555278.5, ENST00000556275.5, ENST00000557772.5 )
Associated Disease
Graves Disease
Source Database
DisGeNET
Description
The association between rs4986938 (ESR2) and aSLE is a novel finding, consistent with our recent report associating this variant with Graves' disease.
Pubmed
20961965
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.00318135759484294
Year of publication
2011
Drugs