Annotation Detail
Information
- Associated Genes
- IL4
- 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
- The data indicate that the rs1805010 minor allele contributes to increased Th17 cell frequency, enhanced clinical activity, and accelerated radiographic progression in RA by rendering CD4 T cells from RA patients insensitive to the attenuating effect of IL-4 on Th17 cell development.
- Pubmed
- 24782180
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0334184829625213
- Year of publication
- 2013
Drugs