Annotation Detail
Information
- Associated Genes
- MS4A2
- Associated Variants
-
MS4A2 MUTATION
MS4A2 MUTATION
MS4A2 p.Glu237Gly (p.E237G) ( ENST00000278888.8, ENST00000617306.1 )
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.Gln576Arg (p.Q576R) ( ENST00000543915.6, ENST00000170630.6, ENST00000395762.7 )
MS4A2 p.Glu237Gly (p.E237G) ( ENST00000278888.8, ENST00000617306.1 )
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 )
IL4R p.Gln576Arg (p.Q576R) ( ENST00000170630.6, ENST00000395762.7, ENST00000543915.6 ) - Associated Disease
- asthma
- Source Database
- DisGeNET
- Description
- To investigate whether the single-nucleotide polymorphisms (SNPs) Ile75Val and Gln576Arg in the IL4RA gene, -33C>T in the IL4 gene, and Gly237Glu in the FCER1B gene contribute to the development and severity of atopic bronchial asthma in Russian patients from Moscow.
- Pubmed
- 22533235
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0552223853840336
- Year of publication
- 2012
Drugs