Network Topologies and Convergent Aetiologies Arising from Deletions and Duplications Observed in Individuals with Autism
Figure 1
Relationships of mouse model phenotypic terms enriched among genes overlapped by de novo CNVs identified in individuals with ASD.
Relationships between phenotypic terms within the Mammalian Phenotype Ontology are indicated by a blue arrow running from the child term to the parent term. Terms are significant (BH-adjusted p<5%) in at least one of 4 sets of de novo CNVs identified in individuals with autism if they are shown with a coloured border (red, dark and light blue). Those terms whose significant enrichment is observed in three independent sets, and thus triplicated, are marked with a boxed letter “T”. Panels A–E show representative clusters of Behaviour/Neurological phenotypic category, while Panel F shows the enriched phenotypes from the Nervous System phenotypic category and Panel G shows representative enrichments from the Hearing/Vestibular/Ear phenotypic category. The number adjacent to the phenotypic terms indicates the rank of that phenotypic term among those phenotypes significantly enriched among a set of 22 disease genes previously implicated in ASD (see Results).