Annotation Detail
Information
- Associated Genes
- DECR1
- Associated Variants
-
CYBA p.Tyr72His (p.Y72H)
(
ENST00000696162.1,
ENST00000696157.1,
ENST00000696161.1,
ENST00000696156.1,
ENST00000261623.8,
ENST00000696158.1,
ENST00000569359.5,
ENST00000696163.1,
ENST00000696159.1,
ENST00000567174.5,
ENST00000696160.1 )
NC_000022.11:g.36860804G>A
CYBA p.Tyr72His (p.Y72H) ( ENST00000261623.8, ENST00000567174.5, ENST00000569359.5, ENST00000696156.1, ENST00000696157.1, ENST00000696158.1, ENST00000696159.1, ENST00000696160.1, ENST00000696161.1, ENST00000696162.1, ENST00000696163.1 )
NC_000022.11:g.36860804G>A - Associated Disease
- Myocardial necrosis
- Source Database
- DisGeNET
- Description
- In patients receiving anthracyclines, NADPH oxidase polymorphism rs4673 protected against focal myocardial necrosis (odds ratio [OR], 0.11; 95% confidence interval [CI], 0.20-0.63) whereas rs1883112 was strongly associated with cardiac fibrosis (OR, 5.11; 95% CI, 1.59-16.43), which was present in all homozygotes.
- Pubmed
- 23576480
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
- Year of publication
- 2013
Drugs