Annotation Detail

Information
Associated Genes
AGTR1
Associated Variants
AGTR1 MUTATION
AGTR1 MUTATION
MMP3 p.Lys45Glu (p.K45E) ( ENST00000299855.10 )
APOE p.Lys19Glu (p.K19E) ( ENST00000252486.9 )
AGTR1 p.Ala163Thr (p.A163T) ( ENST00000404754.2, ENST00000349243.8, ENST00000402260.2, ENST00000418473.7, ENST00000461609.1, ENST00000474935.5, ENST00000475347.5, ENST00000497524.5 )
MMP3 p.Lys45Glu (p.K45E) ( ENST00000299855.10 )
PECAM1 p.Arg670Gly (p.R670G) ( ENST00000563924.6 )
APOE p.Lys19Glu (p.K19E) ( ENST00000252486.9 )
AGTR1 p.Ala163Thr (p.A163T) ( ENST00000349243.8, ENST00000402260.2, ENST00000404754.2, ENST00000418473.7, ENST00000461609.1, ENST00000474935.5, ENST00000475347.5, ENST00000497524.5 )
Associated Disease
Chronic Kidney Diseases
Source Database
DisGeNET
Description
The chi-square test and multivariable logistic regression analysis with adjustment for covariates revealed that the -219G-->T polymorphism of APOE, the -519A-->G of MMP1, the -866G-->A of UCP2, the -1607/1G-->2G of MMP1, the A-->G (Lys45Glu) of MMP3, the G-->A (Ala163Thr) of AGTR1, the G-->A (Gly670Arg) of PECAM1, and the -55C-->T of UCP3 were significantly (false discovery rate <0.05) associated with CKD.
Pubmed
19406964
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.00217153497664243
Year of publication
2009
Drugs