Annotation Detail

Information
Associated Genes
NOS3
Associated Variants
GSTP1 c.[313A>G;341=] ( ENST00000398606.10 )
UCP1 p.Ala64Thr (p.A64T) ( ENST00000262999.4 )
NOS3 p.Asp298Glu (p.D298E) ( ENST00000297494.8, ENST00000461406.5, ENST00000467517.1, ENST00000484524.5 )
GSTP1 c.[313A>G;341=] ( ENST00000398606.10 )
UCP1 p.Ala64Thr (p.A64T) ( ENST00000262999.4 )
NOS3 p.Asp298Glu (p.D298E) ( ENST00000297494.8, ENST00000461406.5, ENST00000467517.1, ENST00000484524.5 )
Associated Disease
Kidney Failure, Chronic
Source Database
DisGeNET
Description
In south Indian (SI) subjects there was significant allelic and genotypic association of the wild-type allele in SOD2 (Ala9Val; P=.002 and P=.013, respectively), UCP1 (-112 T>G, P=.012 and P=.009; Ala64Thr, P=.015 and P=.004), NOS3 (Glu298Asp, P=.002 and P=.009) and GSTP1 (Ile105Val, P=.003 and P=.004) genes with development of CRI.
Pubmed
18413200
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.137442239837345
Year of publication
2009
Drugs