Annotation Detail

Information
Associated Genes
IL4R
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
asthma
Source Database
DisGeNET
Description
Our findings indicate that the Q576R polymorphism directly promotes asthma in carrier populations by selectively augmenting IL-4R alpha-dependent signaling.
Pubmed
19770271
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.111013894068804
Year of publication
2009
Drugs