Annotation Detail
Information
- Associated Genes
- HSD17B1
- Associated Variants
-
CYP2C19 c.1149+633A>G
(
ENST00000371321.9 )
HSD17B1 p.Gly314Ser (p.G314S) ( ENST00000225929.5, ENST00000585807.6 )
HSD17B1 p.Gly314Arg (p.G314R) ( ENST00000225929.5, ENST00000585807.6 )
CYP2C19 c.1149+633A>G ( ENST00000371321.9 )
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
- The comparison of genotype and allelic frequency of CYP2C19 polymorphism (rs11592737) in patients with endometriosis and control group showed a statistically significant difference (p = 0.0203) and for the HSD17B1 polymorphism (rs605059) differences were not significant (p = 0.0687).
- Pubmed
- 25403437
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.132354299418781
- Year of publication
- 2014
Drugs