PTCHD1 associated_with autism spectrum disorder

Subject: PTCHD1
Relation: associated_with
Object: autism spectrum disorder
p-value: —

Evidence from: primary | all sources

Evidence (1 sources)

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

recurrent structural variations ... including: Patched Domain Containing 1 (PTCHD1) ...

confidence: 0.94