Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Autism Spectrum Disorders
CUI: C1510586
Disease: Autism Spectrum Disorders
0.030 GeneticVariation BEFREE Our aim was to evaluate the influence of two polymorphisms (rs1042778, rs53576) at the oxytocin receptor gene (OXTR) on ASD diagnosis and on specific ASD-related clinical symptoms (seizures, panic, and aggressive behaviors). 29858823 2018
Autism Spectrum Disorders
CUI: C1510586
Disease: Autism Spectrum Disorders
0.030 GeneticVariation BEFREE It was expected that risk-allele-carriers of the oxytocin-receptor-gene-polymorphism (rs53576) and of CD38 (rs379863) responded similar to upright and inverted faces as persons with ASD. 27015428 2016
Autism Spectrum Disorders
CUI: C1510586
Disease: Autism Spectrum Disorders
0.030 GeneticVariation BEFREE Our findings identify gender-dependent mechanisms of OXTR rs53576 gene variation impacting the functional connectivity of the hypothalamus in healthy individuals and suggest that these mechanisms are important for understanding ASDs. 23684879 2013