Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 57680
Gene Symbol: CHD8
CHD8
0.490 GeneticVariation disease BEFREE Microdeletions encompassing 14q11.2 locus, involving SUPT16H and CHD8, were shown to cause developmental delay, intellectual disability, autism spectrum disorders and macrocephaly. 31823155 2020
Entrez Id: 57680
Gene Symbol: CHD8
CHD8
0.490 Biomarker disease BEFREE A distinct neurodevelopmental syndrome with intellectual disability, autism spectrum disorder, characteristic facies, and macrocephaly is caused by defects in CHD8. 30670789 2019
Entrez Id: 57680
Gene Symbol: CHD8
CHD8
0.490 Biomarker disease CTD_human A distinct neurodevelopmental syndrome with intellectual disability, autism spectrum disorder, characteristic facies, and macrocephaly is caused by defects in CHD8. 30670789 2019
Entrez Id: 57680
Gene Symbol: CHD8
CHD8
0.490 GeneticVariation disease BEFREE We investigated 25 individuals with CHD8 protein truncating variants (PTVs), including 10 previously unreported patients and found a male to female ratio of 2.7:1 (19:7) and a pattern of common features: macrocephaly (62.5%), tall stature (47%), developmental delay and/or intellectual disability (81%), ASDs (84%), sleep difficulties (50%), gastrointestinal problems (40%), and distinct facial features. 31001818 2019
Entrez Id: 57680
Gene Symbol: CHD8
CHD8
0.490 GeneticVariation disease BEFREE Heterozygous mutations in CHD8 give rise to ASD that is often accompanied by macrocephaly, gastrointestinal complaints, and slender habitus. 29768199 2018
Entrez Id: 57680
Gene Symbol: CHD8
CHD8
0.490 GeneticVariation disease BEFREE Submicroscopic 14q11.2 deletions involving the CHD8 and SUPT16H genes have been reported in patients with developmental delay (DD)/intellectual disability (ID) or autism spectrum disorders (ASDs) and/or macrocephaly. 26834018 2016
Entrez Id: 57680
Gene Symbol: CHD8
CHD8
0.490 GeneticVariation disease BEFREE CHD8 mutations have been found in patients with neurodevelopmental disorders and macrocephaly. 25735987 2015
Entrez Id: 57680
Gene Symbol: CHD8
CHD8
0.490 Biomarker disease CTD_human Disruptive CHD8 mutations define a subtype of autism early in development. 24998929 2014
Entrez Id: 57680
Gene Symbol: CHD8
CHD8
0.490 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
0.490 Biomarker disease BEFREE In vivo suppression of chd8 in zebrafish produced macrocephaly comparable to that of humans with inactivating mutations. 25294932 2014
Entrez Id: 57680
Gene Symbol: CHD8
CHD8
0.490 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
0.490 Biomarker disease HPO