copy number variant risk_factor_for autism spectrum disorder

Subject: copy number variant
Relation: risk_factor_for
Object: autism spectrum disorder
p-value: —

Evidence from: primary | all sources

Evidence (2 sources)

Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism. (2011) PMID:21658581 cited

"large ... de novo events were more frequent in ASD probands..." indicating CNVs are linked to ASD.

confidence: 0.95

Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism. (2011) PMID:21658581 cited

identified a significantly higher burden of genic and ASD-related CNVs in cases versus unrelated controls

confidence: 0.90