Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0524528
Disease: Pervasive Development Disorder
Pervasive Development Disorder
0.010 GeneticVariation group BEFREE Germline mosaicism for a novel missense variant p.Thr645Met located in the SNF2-related ATP dependent helicase domain of CHD2 in 2 affected siblings with autism spectrum disorder. 28960266 2017