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
male infertility
Source Database
DisGeNET
Description
[The RsaI polymorphism in the estrogen receptor-beta gene is associated with male infertility.]
Pubmed
15998774
Original source reporting the Gene Disease association
GAD
DisGENET score for the Gene Disease association
0.00818686342412731
Year of publication
2005
Drugs