Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0524528
Disease: Pervasive Development Disorder
Pervasive Development Disorder
0.020 Biomarker group BEFREE Our findings emphasize that NEXMIF sequencing should be strongly considered in patients with unexplained autism spectrum disorder, ID, and epilepsy, irrespective of gender. 29717186 2018
CUI: C0524528
Disease: Pervasive Development Disorder
Pervasive Development Disorder
0.020 Biomarker group BEFREE Loss of function of KIAA2022 causes mild to severe intellectual disability with an autism spectrum disorder and impairs neurite outgrowth. 23615299 2013