Annotation Detail

Information
Associated Genes
PLA2G7
Associated Variants
PLA2G7 MUTATION
PLA2G7 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
0.000271441872080303
Year of publication
2004
Drugs