Annotation Detail

Information
Associated Genes
AOPEP
Associated Variants
AOPEP c.1365-37681G>A ( ENST00000277198.6, ENST00000297979.9, ENST00000375315.8 )
AOPEP c.1365-37681G>A ( ENST00000277198.6, ENST00000297979.9, ENST00000375315.8 )
Associated Disease
polycystic ovary syndrome
Source Database
DisGeNET
Description
Each single PCOS clinical feature had a specific genetic association, and rs4385527 in the chromosome 9 open reading frame 3 (C9orf3) conferred a particular risk to the three defined PCOS clinical features in this study, which suggested its fundamental role in the etiology of PCOS.
Pubmed
25586784
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.12027144187208
Year of publication
2015
Drugs