SYN1, synapsin I, 6853

N. diseases: 80; N. variants: 16
Disease: Autistic Disorder ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.040 GeneticVariation disease BEFREE Several mutations in SYN1 have been identified in patients affected by epilepsy and/or autism. 28973667 2017
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.040 Biomarker disease BEFREE This 'synaptic autism pathway' notably includes disruption of SYN1 that is associated with epilepsy, autism and abnormal behavior in both human and mice models. 23956174 2014
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.040 GeneticVariation disease BEFREE SynI knockout (KO) mice are epileptic, and nonsense and missense mutations in the human SYN1 gene have a causal role in idiopathic epilepsy and autism. 23406870 2013
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.040 GeneticVariation disease BEFREE Additional mutations in SYN1 (A51G, A550T and T567A) were found in 1.0 and 3.5% of French-Canadian individuals with autism and epilepsy, respectively. 21441247 2011