Annotation Detail
Information
- Associated Genes
- HTR1A
- Associated Variants
-
HTR1A MUTATION
HTR1A MUTATION
HTR2A p.Ser34= (p.S34=) ( ENST00000542664.4, ENST00000543956.5 )
HTR1A c.-1019G>C
HTR2A p.Ser34= (p.S34=) ( ENST00000542664.4, ENST00000543956.5 )
HTR1A c.-1019G>C - Associated Disease
- Gilles de la Tourette syndrome
- Source Database
- DisGeNET
- Description
- As neuroimaging studies allude to dopaminergic and serotonergic dysfunction in GTS and serotonin as an important factor for dopamine release, genotyping of common polymorphisms in the serotonergic receptor (HTR1A: C-1019G; HTR2A: T102C, His452Tyr, A-1438G; HTR2C: C-759T, G-697C) and transporter genes (SLC6A4) was carried out in 87 patients with GTS, compared with 311 matched controls.
- Pubmed
- 20010450
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00263847385068233
- Year of publication
- 2010
Drugs