Annotation Detail

Information
Associated Genes
CCR5
Associated Variants
CX3CR1 p.Thr312Met (p.T312M) ( ENST00000358309.3, ENST00000399220.3, ENST00000541347.5, ENST00000542107.5 )
CX3CR1 p.Val281Ile (p.V281I) ( ENST00000358309.3, ENST00000399220.3, ENST00000541347.5, ENST00000542107.5 )
CX3CR1 p.Thr312Met (p.T312M) ( ENST00000358309.3, ENST00000399220.3, ENST00000541347.5, ENST00000542107.5 )
CX3CR1 p.Val281Ile (p.V281I) ( ENST00000358309.3, ENST00000399220.3, ENST00000541347.5, ENST00000542107.5 )
Associated Disease
Chronic kidney disease stage 5
Source Database
DisGeNET
Description
We explored the role of CCR5-Δ32, CCR5-G59029A, CX3CR1 V249I and T280M gene polymorphisms as susceptibility for end stage renal disease (ESRD).
Pubmed
21132346
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.00108576748832121
Year of publication
2011
Drugs