Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 57680
Gene Symbol: CHD8
CHD8
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
Entrez Id: 57680
Gene Symbol: CHD8
CHD8
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
Entrez Id: 57680
Gene Symbol: CHD8
CHD8
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
Entrez Id: 57680
Gene Symbol: CHD8
CHD8
0.800 Biomarker disease BEFREE These results suggest that CHD8 insufficiency may be a central hub in neuronal development and ASD risk. 25989142 2015
Entrez Id: 57680
Gene Symbol: CHD8
CHD8
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
Entrez Id: 57680
Gene Symbol: CHD8
CHD8
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
Entrez Id: 57680
Gene Symbol: CHD8
CHD8
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
Entrez Id: 57680
Gene Symbol: CHD8
CHD8
0.800 GeneticVariation disease BEFREE Notably, recent studies also disclosed CHD8 heterozygous loss-of-function mutations in patients with ASD and macrocephaly. 25257502 2014
Entrez Id: 57680
Gene Symbol: CHD8
CHD8
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
Entrez Id: 57680
Gene Symbol: CHD8
CHD8
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
Entrez Id: 57680
Gene Symbol: CHD8
CHD8
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
Entrez Id: 57680
Gene Symbol: CHD8
CHD8
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
Entrez Id: 57680
Gene Symbol: CHD8
CHD8
0.800 Biomarker disease CLINGEN Histone H1 recruitment by CHD8 is essential for suppression of the Wnt-β-catenin signaling pathway. 22083958 2012
Entrez Id: 57680
Gene Symbol: CHD8
CHD8
0.800 Biomarker disease CLINGEN Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations. 22495309 2012
Entrez Id: 57680
Gene Symbol: CHD8
CHD8
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
Entrez Id: 57680
Gene Symbol: CHD8
CHD8
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
Entrez Id: 57680
Gene Symbol: CHD8
CHD8
0.800 Biomarker disease MGD
Entrez Id: 9379
Gene Symbol: NRXN2
NRXN2
0.740 Biomarker disease GENOMICS_ENGLAND A de novo 921 Kb microdeletion at 11q13.1 including neurexin 2 in a boy with developmental delay, deficits in speech and language without autistic behaviors. 29654904 2018
Entrez Id: 9379
Gene Symbol: NRXN2
NRXN2
0.740 Biomarker disease BEFREE The deletion contains several genes including PPP2R5B, which has been associated with intellectual disability and overgrowth; NRXN2, which has been associated with intellectual disability and autism spectrum disorder; and CDCA5, which is part of the cohesin pathway, as are all the five known CdLS genes. 26164757 2015
Entrez Id: 9379
Gene Symbol: NRXN2
NRXN2
0.740 GeneticVariation disease BEFREE Gephyrin has well-established functional links with several synaptic proteins that have been implicated in genetic risk for neurodevelopmental disorders such as autism spectrum disorder (ASD), schizophrenia and epilepsy including the neuroligins (NLGN2, NLGN4), the neurexins (NRXN1, NRXN2, NRXN3) and collybistin (ARHGEF9). 23393157 2013
Entrez Id: 9379
Gene Symbol: NRXN2
NRXN2
0.740 GeneticVariation disease BEFREE In autism spectrum disorder (ASD), as well as in other neurodevelopmental conditions, rare exonic copy-number variants and/or point mutations have been identified in the NRXN1 and NRXN2 loci. 22209245 2012
Entrez Id: 9379
Gene Symbol: NRXN2
NRXN2
0.740 Biomarker disease BEFREE Our findings link NRXN2 disruption to the pathogenesis of ASD for the first time and further strengthen the involvement of NRXN1 in SCZ, supporting the notion of a common genetic mechanism in these disorders. 21424692 2011
Entrez Id: 9379
Gene Symbol: NRXN2
NRXN2
0.740 Biomarker disease CTD_human Our findings link NRXN2 disruption to the pathogenesis of ASD for the first time and further strengthen the involvement of NRXN1 in SCZ, supporting the notion of a common genetic mechanism in these disorders. 21424692 2011
Entrez Id: 9379
Gene Symbol: NRXN2
NRXN2
0.740 Biomarker disease MGD
Entrez Id: 85358
Gene Symbol: SHANK3
SHANK3
0.700 Biomarker disease BEFREE Here we used two highly trusted ASD mouse models (male Shank3-deficient [Shank3<sup>+/ΔC</sup> ] mice modeling the monogenic etiology of ASD, and inbred BTBR mice [both male and female] modeling the idiopathic and highly polygenic pathology for ASD) to evaluate the level of motivation to engage in a social interaction. 31602784 2020