Annotation Detail
Information
- Associated Genes
- UCP1
- 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
- 0.00263847385068233
- Year of publication
- 2009
Drugs