HTR2A, 5-hydroxytryptamine receptor 2A, 3356

N. diseases: 289; N. variants: 34
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.360 GeneticVariation disease BEFREE No differences in allele and genotype frequencies for the 5-HT2A receptor marker were found in this autistic population compared with age-matched healthy students. 8953659 1996
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.360 Biomarker disease BEFREE This well-replicated finding and subsequent studies of platelet serotonin receptors in autism indicate that the serotonin 2A receptor gene (HTR2A) on chromosome 13q is a primary candidate gene in autism. 11920848 2002
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.360 Biomarker disease CTD_human The global chi(2) test for haplotype transmission revealed a significant association between HTR2A and autism. 17280648 2007
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.360 GeneticVariation disease LHGDN The global chi(2) test for haplotype transmission revealed a significant association between HTR2A and autism. 17280648 2007
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.360 Biomarker disease BEFREE The global chi(2) test for haplotype transmission revealed a significant association between HTR2A and autism. 17280648 2007
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.360 GeneticVariation disease BEFREE Significant overrepresentation of the G allele and the GG genotype of the -1438 A/G polymorphism was observed in group of autistic subjects, supporting the possible involvement of the 5-HT2A receptor in the development of autism. 20471101 2010
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.360 AlteredExpression disease BEFREE GABRB3, RELN, and HTR2A showed reduced expression, whereas CD38, ITGB3, MAOA, MECP2, OXTR, and PTEN showed elevated expression in autism. 22030357 2012
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.360 GeneticVariation disease BEFREE In this study, we compared the mean DNA methylation within the regulatory region of the HTR2A gene between autistic and control subjects. 26149086 2016