Annotation Detail

Information
Associated Genes
IL4R
Associated Variants
IL4R p.Ile75Leu (p.I75L) ( ENST00000543915.6, ENST00000170630.6, ENST00000395762.7 )
IL4R p.Ile75Val (p.I75V) ( ENST00000543915.6, ENST00000170630.6, ENST00000395762.7 )
IL4R p.Ile75Phe (p.I75F) ( ENST00000543915.6, ENST00000170630.6, ENST00000395762.7 )
IL4R p.Ile75Leu (p.I75L) ( ENST00000170630.6, ENST00000395762.7, ENST00000543915.6 )
IL4R p.Ile75Val (p.I75V) ( ENST00000170630.6, ENST00000395762.7, ENST00000543915.6 )
IL4R p.Ile75Phe (p.I75F) ( ENST00000170630.6, ENST00000395762.7, ENST00000543915.6 )
Associated Disease
rheumatoid arthritis
Source Database
DisGeNET
Description
Increased Th17 cell frequency and poor clinical outcome in rheumatoid arthritis are associated with a genetic variant in the IL4R gene, rs1805010.
Pubmed
24782180
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.0143640131335177
Year of publication
2013
Drugs