Disease: Pervasive Development Disorder ×
Source: BEFREE ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0524528
Disease: Pervasive Development Disorder
Pervasive Development Disorder 		0.040 GeneticVariation group BEFREE Mutations in ADNP have been recently associated with intellectual disability and autism spectrum disorder. 30679581 2019
CUI: C0524528
Disease: Pervasive Development Disorder
Pervasive Development Disorder 		0.040 GeneticVariation group BEFREE ADNP mutations have been identified in children with autism spectrum disorder comorbid with intellectual disability, distinctive facial features, and deficits in multiple organ systems. 29724491 2019
CUI: C0524528
Disease: Pervasive Development Disorder
Pervasive Development Disorder 		0.040 GeneticVariation group BEFREE ADNP syndrome is an intellectual disability associated with Autism spectrum disorder caused by mutations in ADNP. 31035039 2019
CUI: C0524528
Disease: Pervasive Development Disorder
Pervasive Development Disorder 		0.040 GeneticVariation group BEFREE © 2018 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: Disruptions to the ADNP gene (i.e., ADNP syndrome) have been associated with autism spectrum disorder (ASD). 30107084 2018