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
0.020 GeneticVariation BEFREE A new Q555X mutation on the SYN1 gene was recently found in several members of a family segregating dyslexia, epilepsy, and autism spectrum disorder. 29671924 2018
Autism Spectrum Disorders
CUI: C1510586
Disease: Autism Spectrum Disorders
0.020 GeneticVariation BEFREE Detailed neuropsychological assessments revealed that SYN1 Q555X male mutation carriers showed specific language impairment and mild autistic spectrum disorder. 26096837 2015