Annotation Detail
Information
- Associated Genes
- NAT2
- Associated Variants
-
MTHFR p.Glu474Ala (p.E474A)
(
ENST00000376592.6,
ENST00000641407.1,
ENST00000376590.9,
ENST00000423400.7,
ENST00000641820.1,
ENST00000376583.7,
ENST00000376585.6 )
MTHFR c.360-340T>C ( ENST00000423400.7, ENST00000376583.7, ENST00000376585.6, ENST00000376592.6, ENST00000641407.1, ENST00000376590.9 )
NAT2 p.Ile114Thr (p.I114T) ( ENST00000286479.4, ENST00000520116.1 )
NAT2 p.Arg197Gln (p.R197Q) ( ENST00000286479.4, ENST00000520116.1 )
NAT2 p.Gly286Glu (p.G286E) ( ENST00000286479.4, ENST00000520116.1 )
MTHFR p.Glu474Ala (p.E474A) ( ENST00000376583.7, ENST00000376585.6, ENST00000376590.9, ENST00000376592.6, ENST00000423400.7, ENST00000641407.1, ENST00000641820.1 )
MTHFR c.360-340T>C ( ENST00000376583.7, ENST00000376585.6, ENST00000376590.9, ENST00000376592.6, ENST00000423400.7, ENST00000641407.1 )
NAT2 p.Ile114Thr (p.I114T) ( ENST00000286479.4, ENST00000520116.1 )
NAT2 p.Arg197Gln (p.R197Q) ( ENST00000286479.4, ENST00000520116.1 )
NAT2 p.Gly286Glu (p.G286E) ( ENST00000286479.4, ENST00000520116.1 ) - Associated Disease
- rheumatoid arthritis
- Source Database
- DisGeNET
- Description
- In this study, the six polymorphisms associated with rheumatoid arthritis (RA), N-acetyltransferase2 (NAT2) gene polymorphisms T341C, G590A, and G857A, methylenetetrahydrofolate reductase (MTHFR) gene polymorphisms C677T and A1298C, and serum amyloid A1 (SAA1) gene promoter polymorphism C-13T were simultaneously detected by the electrochemical DNA chip and the loop-mediated isothermal amplification (LAMP) method, which is a novel technique for DNA amplification.
- Pubmed
- 17985847
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0197268372266672
- Year of publication
- 2007
Drugs