Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		0.800 Biomarker disease BEFREE Our clinical case supports the hypothesis that CHD8 may play a central role in neuronal cell development and ASD risk. 26921529 2016
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		0.800 Biomarker disease CLINGEN REST activation was also observed in the brains of humans with ASD, and CHD8 was found to interact physically with REST in the mouse brain. 27602517 2016
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		0.800 Biomarker disease BEFREE Recently, disruptive CHD8 mutations were described in patients with similar phenotypes further showing pivotal role of CHD8 gene in the pathogenesis of DD/ID or ASDs. 26834018 2016
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		0.800 Biomarker disease BEFREE These results suggest that CHD8 insufficiency may be a central hub in neuronal development and ASD risk. 25989142 2015
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		0.800 Biomarker disease BEFREE Finally, analyses of the CHD8 subnetwork and altered transcript levels from an independent study of CHD8 suppression further confirmed the central role of genes regulating neurogenesis and cell adhesion processes in ASD brain maldevelopment. 26668231 2015
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		0.800 Biomarker disease BEFREE These results suggest loss of CHD8 contributes to ASD by perturbing an ancient gene regulatory network during human brain development. 25752243 2015
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		0.800 Biomarker disease CLINGEN Our findings indicate that CHD8 disruptions define a distinct ASD subtype and reveal unexpected comorbidities between brain development and enteric innervation. 24998929 2014
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		0.800 GeneticVariation disease BEFREE Notably, recent studies also disclosed CHD8 heterozygous loss-of-function mutations in patients with ASD and macrocephaly. 25257502 2014
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		0.800 Biomarker disease BEFREE Our findings indicate that CHD8 disruptions define a distinct ASD subtype and reveal unexpected comorbidities between brain development and enteric innervation. 24998929 2014
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		0.800 GeneticVariation disease BEFREE Genes associated with ASD were strongly enriched among indirectly down-regulated loci (P < 10(-8)) and CHD8-bound genes (P = 0.0043), which align with previously identified coexpression modules during fetal development. 25294932 2014
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		0.800 GeneticVariation disease BEFREE The most interesting genes included in this deletion are CHD8, a chromodomain helicase DNA binding protein that is associated with autism spectrum disorders, and MMP14, a matrix metalloproteinase that has been linked to obesity and type 2 diabetes. 24243641 2014
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		0.800 Biomarker disease CTD_human Our findings indicate that CHD8 disruptions define a distinct ASD subtype and reveal unexpected comorbidities between brain development and enteric innervation. 24998929 2014
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		0.800 Biomarker disease CLINGEN Histone H1 recruitment by CHD8 is essential for suppression of the Wnt-β-catenin signaling pathway. 22083958 2012
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		0.800 Biomarker disease CLINGEN Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations. 22495309 2012
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		0.800 GeneticVariation disease BEFREE Our data support associations between specific genes and reciprocal subphenotypes (CHD8-macrocephaly and DYRK1A-microcephaly) and replicate the importance of a β-catenin-chromatin-remodeling network to ASD etiology. 23160955 2012
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		0.800 Biomarker disease BEFREE Because identification of novel CHD7 and CHD8 interacting partners will provide further insights into the pathogenesis of CHARGE syndrome and ASD/NDD, we searched for additional associated polypeptides using the method of stable isotope labeling by amino acids in cell culture (SILAC) in combination with mass spectrometry. 23285124 2012
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		0.800 Biomarker disease MGD
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.700 Biomarker disease BEFREE CHD8 has been reported as an autism susceptibility/intellectual disability gene but emerging evidence suggests that it additionally causes an overgrowth phenotype. 31721432 2019
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.700 GeneticVariation disease BEFREE Mutations in the CHD2 gene have been linked to developmental delay, intellectual disability, autism and seizures, CHD8 mutations to autism and intellectual disability, whereas haploinsufficiency of CHD7 is associated with executive dysfunction and intellectual disability. 30277262 2018
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.700 Biomarker disease BEFREE Autism-associated CHD8 deficiency impairs axon development and migration of cortical neurons. 30574290 2018
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.700 Biomarker disease BEFREE The chromatin remodeling gene CHD8 represents a central node in neurodevelopmental gene networks implicated in autism. 28671691 2017
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.700 GeneticVariation disease BEFREE This case report supports the association of CHD8 mutations with classical autism, macrocephaly, infantile hypotonia, speech delay, lack of major ID, and psychopathology in late adolescence caused by insufficient dosage of CHD8. 26789910 2016
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.700 GeneticVariation disease BEFREE We describe a single case of an intragenic deletion of exons 26-28 in the CHD8 gene in a patient with autism and global developmental delay. 26921529 2016
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.700 CausalMutation disease CLINVAR A de novo frameshift mutation in chromodomain helicase DNA-binding domain 8 (CHD8): A case report and literature review. 26789910 2016
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.700 Biomarker disease BEFREE The autism-associated chromatin modifier CHD8 regulates other autism risk genes during human neurodevelopment. 25752243 2015