16p11.2 duplication associated_with ASD

Subject: 16p11.2 duplication
Relation: associated_with
Object: ASD
p-value: 2e-05

Evidence from: primary | all sources

Evidence (3 sources)

Distribution of disease-associated copy number variants across distinct disorders of cognitive development. (2013) PMID:23582872 cited

also identified in ID, ASD, schizophrenia, and epilepsy.

confidence: 0.90

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

16p11.2 duplications (N=4; p=7 × 10−6) are strongly associated with ASD when considered independently

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

16p11.2 ... 5 duplications ... association with ASD (2 × 10−5 for duplications)

confidence: 0.95