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
Coronary heart disease
Source Database
DisGeNET
Description
To investigate whether a polymorphism in the ESR2 gene (rs4986938, previously associated with endometriosis, ovulatory dysfunction and premature onset of coronary heart disease) increases the risk of Graves' disease (GD).
Pubmed
17941906
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.122638473850682
Year of publication
2008
Drugs