Annotation Detail
Information
- Associated Genes
- HFE
- Associated Variants
-
ABCC2 p.Cys1515Tyr (p.C1515Y)
(
ENST00000647814.1 )
RAC2 c.108-3812A>T ( ENST00000249071.11, ENST00000405484.5, ENST00000406508.5 )
RAC2 rs13058338 ( ENST00000249071.11, ENST00000405484.5, ENST00000406508.5 )
HFE p.His63Asp (p.H63D) ( ENST00000309234.11, ENST00000317896.11, ENST00000336625.12, ENST00000349999.8, ENST00000352392.8, ENST00000353147.9, ENST00000357618.10, ENST00000397022.7, ENST00000461397.6, ENST00000470149.5, ENST00000485729.2, ENST00000488199.5, ENST00000714164.1, ENST00000714170.1, ENST00000714172.1, ENST00000714174.1 )
ABCC2 p.Cys1515Tyr (p.C1515Y) ( ENST00000647814.1 )
RAC2 c.108-3812A>T ( ENST00000249071.11, ENST00000405484.5, ENST00000406508.5 )
RAC2 c.108-3812A>C ( ENST00000249071.11, ENST00000405484.5, ENST00000406508.5 )
HFE p.His63Asp (p.H63D) ( ENST00000309234.11, ENST00000317896.11, ENST00000336625.12, ENST00000349999.8, ENST00000352392.8, ENST00000353147.9, ENST00000357618.10, ENST00000397022.7, ENST00000461397.6, ENST00000470149.5, ENST00000485729.2, ENST00000488199.5, ENST00000714164.1, ENST00000714170.1, ENST00000714172.1, ENST00000714174.1 ) - Associated Disease
- Hypertensive disease
- Source Database
- DisGeNET
- Description
- Multivariate analysis revealed that the odds of CHF was higher in females [Odds Ratio (OR) = 2·9, P < 0·01], individuals with pre-HCT chest radiation (OR = 4·7, P = 0·05), hypertension (OR = 2·9, P = 0·01), and with variants of genes coding for the NAD(P)H-oxidase subunit RAC2 (rs13058338, 7508T→A; OR = 2·8, P < 0·01), HFE (rs1799945, 63C→G; OR = 2·5, P = 0·05) or the doxorubicin efflux transporter ABCC2 (rs8187710, 1515G→A; OR = 4·3, P < 0·01).
- Pubmed
- 23927520
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.132378043637171
- Year of publication
- 2013
Drugs