Annotation Detail

Information
Associated Genes
CCR5
Associated Variants
IL4R p.Gln576Arg (p.Q576R) ( ENST00000543915.6, ENST00000170630.6, ENST00000395762.7 )
IL4R p.Gln576Arg (p.Q576R) ( ENST00000170630.6, ENST00000395762.7, ENST00000543915.6 )
Associated Disease
Inflammatory Bowel Diseases
Source Database
DisGeNET
Description
We did not find any significant correlation between a 32-bp deletion variant of CCR5 or a single nucleotide change A1902G (Gln576Arg) of IL4RA, and IBD phenotypes, with the exception that in the UC group homozygosity for the G1902 allele of IL4RA was less frequent (0.019 vs 0.049, P=0.038).
Pubmed
11378820
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.00690559893384649
Year of publication
2001
Drugs