Annotation Detail

Information
Associated Genes
HTR2A
Associated Variants
HTR2A MUTATION
HTR2A MUTATION
HTR2A p.Ser34= (p.S34=) ( ENST00000542664.4, ENST00000543956.5 )
HTR2A p.Ser34= (p.S34=) ( ENST00000542664.4, ENST00000543956.5 )
Associated Disease
Hallucinations
Source Database
DisGeNET
Description
This study suggests a mechanism for the generation of different neuropsychiatric symptoms in AD from a single nucleotide polymorphism with reduced receptor binding in T102C 5-HT2A receptor gene homozygotes correlating with susceptibility to depressive symptoms, whereas the relative preservation of receptor binding in heterozygotes with AD correlating with susceptibility to hallucinations.
Pubmed
17481814
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.000542883744160607
Year of publication
2007
Drugs