Annotation Detail
Information
- Associated Genes
- CYP19A1
- Associated Variants
-
CYP19A1 p.Arg264Cys (p.R264C)
(
ENST00000396404.8,
ENST00000559878.5,
ENST00000396402.6 )
HSD17B1 p.Gly314Ser (p.G314S) ( ENST00000225929.5, ENST00000585807.6 )
HSD17B1 p.Gly314Arg (p.G314R) ( ENST00000225929.5, ENST00000585807.6 )
CYP19A1 p.Arg264Cys (p.R264C) ( ENST00000396402.6, ENST00000396404.8, ENST00000559878.5 )
HSD17B1 p.Gly314Ser (p.G314S) ( ENST00000225929.5, ENST00000585807.6 )
HSD17B1 p.Gly314Arg (p.G314R) ( ENST00000225929.5, ENST00000585807.6 ) - Associated Disease
- endometriosis
- Source Database
- DisGeNET
- Description
- Here, we evaluated whether the risk and severity of endometriosis are associated with polymorphisms in estradiol-synthesizing enzyme genes: the Ser312Gly polymorphism in 17-beta-hydroxysteroid dehydrogenase type 1 (HSD17B1) and the Arg264Cys polymorphism in cytochrome P450, subfamily XIX (CYP19).
- Pubmed
- 15640252
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.239873124890595
- Year of publication
- 2005
Drugs