Annotation Detail

Information
Associated Genes
ESR1
Associated Variants
ESR1 c.453-397T>C ( ENST00000206249.8, ENST00000338799.9, ENST00000406599.5, ENST00000427531.6, ENST00000440973.5, ENST00000443427.5, ENST00000456483.3 )
ESR1 c.453-397T>C ( ENST00000206249.8, ENST00000338799.9, ENST00000406599.5, ENST00000427531.6, ENST00000440973.5, ENST00000443427.5, ENST00000456483.3 )
Associated Disease
schizophrenia
Source Database
DisGeNET
Description
A recent study reported an association between rs2234693, which influences enhancer activity levels in estrogen receptor alpha gene (ESR1), and schizophrenia.
Pubmed
19386276
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.0167310451121198
Year of publication
2009
Drugs