Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1106
Gene Symbol: CHD2
CHD2
0.330 Biomarker disease CTD_human Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases. 28191889 2017
Entrez Id: 1106
Gene Symbol: CHD2
CHD2
0.330 GeneticVariation disease 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
Entrez Id: 1106
Gene Symbol: CHD2
CHD2
0.330 Biomarker disease BEFREE This work underlines the importance to consider a CHD2 involvement in children with intellectual disability and autism spectrum disorder even in the absence of epilepsy at an early age. 26754451 2016
Entrez Id: 1106
Gene Symbol: CHD2
CHD2
0.330 GeneticVariation disease BEFREE Pathogenic CNVs, often showing variable expressivity, included rare de novo and inherited events at 36 loci, implicating ASD-associated genes (CHD2, HDAC4, and GDI1) previously linked to other neurodevelopmental disorders, as well as other genes such as SETD5, MIR137, and HDAC9. 24768552 2014