Annotation Detail

Information
Associated Genes
NEUROD1
Associated Variants
ADRB2 p.Gly16Arg (p.G16R) ( ENST00000305988.6 )
ADRB2 p.Glu27Gln (p.E27Q) ( ENST00000305988.6 )
ADRB2 p.Glu27Ter (p.E27*) ( ENST00000305988.6 )
ADRB2 p.Gly16Arg (p.G16R) ( ENST00000305988.6 )
ADRB2 p.Glu27Gln (p.E27Q) ( ENST00000305988.6 )
ADRB2 p.Glu27Ter (p.E27*) ( ENST00000305988.6 )
Associated Disease
asthma
Source Database
DisGeNET
Description
Recent studies have suggested that two polymorphisms of the beta(2)-adrenergic receptor (beta(2)AR) gene at codons 16 (arginine to glycine) and 27 (glutamine to glutamate) affect an individual's airway responsiveness, or response to acute or chronic beta(2)-agonist therapy but are not risk factors for asthma.
Pubmed
11371409
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.0135720936040152
Year of publication
2001
Drugs