Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 57680
Gene Symbol: CHD8
CHD8
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.490 Biomarker BEFREE These results suggest that, in addition to its established link with autism and intellectual disability, CHD8 causes an overgrowth phenotype, and should be considered in the differential diagnosis of patients presenting with increased height and/or head circumference in association with intellectual disability. 31721432

2019

Entrez Id: 57680
Gene Symbol: CHD8
CHD8
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.490 GeneticVariation BEFREE We suggested that this constituted a new multiple congenital anomaly-intellectual disability syndrome due to defects in CHD8 and/or SUPT16H. 30670789

2019

Entrez Id: 57680
Gene Symbol: CHD8
CHD8
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.490 GeneticVariation 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
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.490 Biomarker CTD_human We suggested that this constituted a new multiple congenital anomaly-intellectual disability syndrome due to defects in CHD8 and/or SUPT16H. 30670789

2019

Entrez Id: 57680
Gene Symbol: CHD8
CHD8
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.490 Biomarker BEFREE We explore the field through the lens of Chd3, Chd4, and Chd5 proteins, which incorporate into the nucleosome remodeling and deacetylase (NuRD) complex, and the related proteins Chd7 and Chd8, implicated in the pathogenesis of intellectual disability and autism spectrum disorders. 31146125

2019

Entrez Id: 57680
Gene Symbol: CHD8
CHD8
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.490 Biomarker BEFREE As expected, individuals with ADNP disruptions had higher rates of ID but less severe social affect symptoms compared to the CHD8 and Idiopathic ASD groups. 30107084

2018

Entrez Id: 57680
Gene Symbol: CHD8
CHD8
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.490 GeneticVariation 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

Entrez Id: 57680
Gene Symbol: CHD8
CHD8
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.490 Biomarker 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
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.490 GeneticVariation BEFREE To better understand the phenotype associated with CHD8 mutations, we genotyped all CHD8 exons in carefully assessed cohorts of autism (n = 142), schizophrenia (SCZ; n = 143), and intellectual disability (ID; n = 94). 26789910

2016

Entrez Id: 57680
Gene Symbol: CHD8
CHD8
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.490 Biomarker BEFREE Genes with DNMs overlapped with genes implicated in autism (for example, AUTS2, CHD8 and MECP2) and intellectual disability (for example, HUWE1 and TRAPPC9), supporting a shared genetic etiology between these disorders. 24776741

2014

Entrez Id: 57680
Gene Symbol: CHD8
CHD8
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.490 Biomarker HPO