Annotation Detail
Information
- Associated Genes
- DECR1
- Associated Variants
-
DECR1 MUTATION
DECR1 MUTATION
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 )
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 ) - Associated Disease
- hyperuricemia
- Source Database
- DisGeNET
- Description
- Multivariate logistic regression analysis with adjustment for age, body mass index, and the prevalence of smoking, hypertension, diabetes mellitus, and hyperuricemia revealed that three polymorphisms [994G --> T (Val279Phe) in the platelet-activating factor acetylhydrolase gene, 242C --> T (His72Tyr) in the NADH/NADPH oxidase p22 phox gene, and 1100C --> T in the apolipoprotein C-III gene] were significantly associated with CAD in men with hypercholesterolemia.
- Pubmed
- 14709372
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00081432561624091
- Year of publication
- 2004
Drugs