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
- Ichthyosis bullosa of Siemens
- Source Database
- DisGeNET
- Description
- This study suggests that the patients with homozygote C allele of the 102 T/C polymorphisms or homozygote A allele of the -1438 G/A polymorphism of the 5-HT2A receptor gene, have a high risk of IBS.
- Pubmed
- 15232358
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000542883744160607
- Year of publication
- 2004
Drugs