Annotation Detail

Information
Associated Genes
GNB3
Associated Variants
GNB3 p.Ser275= (p.S275=) ( ENST00000435982.6, ENST00000229264.8, ENST00000422785.7 )
GNB3 p.Ser275= (p.S275=) ( ENST00000229264.8, ENST00000435982.6, ENST00000422785.7 )
Associated Disease
Ichthyosis bullosa of Siemens
Source Database
DisGeNET
Description
Whereas no specific gene has been identified in association with IBS, recent studies have noticed the importance of polymorphisms in the promoter region of the serotonin reuptake transporter gene, G-protein beta 3 subunit gene (C825T), cholecystokinin receptor (CCKAR gene 779T>C), and high-producer tumor necrosis factor genotype.
Pubmed
19034965
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.00081432561624091
Year of publication
2008
Drugs