Gene: CHD8 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs774152851
rs774152851
CHD8 ; SNORD9
CG 0.700 CausalMutation CLINVAR The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes. 28600779

2017
dbSNP: rs774152851
rs774152851
CHD8 ; SNORD9
CG 0.700 CausalMutation CLINVAR Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability. 28475857

2017
dbSNP: rs1566446604
rs1566446604
CHD8
G 0.700 CausalMutation CLINVAR A de novo frameshift mutation in chromodomain helicase DNA-binding domain 8 (CHD8): A case report and literature review. 26789910

2016
dbSNP: rs774152851
rs774152851
CHD8 ; SNORD9
CG 0.700 CausalMutation CLINVAR A de novo frameshift mutation in chromodomain helicase DNA-binding domain 8 (CHD8): A case report and literature review. 26789910

2016
dbSNP: rs774152851
rs774152851
CHD8 ; SNORD9
CG 0.700 CausalMutation CLINVAR De novo genic mutations among a Chinese autism spectrum disorder cohort. 27824329

2016
dbSNP: rs1566446604
rs1566446604
CHD8
G 0.700 CausalMutation CLINVAR Disruptive CHD8 mutations define a subtype of autism early in development. 24998929

2014
dbSNP: rs774152851
rs774152851
CHD8 ; SNORD9
CG 0.700 CausalMutation CLINVAR Disruptive CHD8 mutations define a subtype of autism early in development. 24998929

2014
dbSNP: rs774152851
rs774152851
CHD8 ; SNORD9
CG 0.700 CausalMutation CLINVAR Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism. 24267886

2013
dbSNP: rs774152851
rs774152851
CHD8 ; SNORD9
CG 0.700 CausalMutation CLINVAR CHD8 is an independent prognostic indicator that regulates Wnt/β-catenin signaling and the cell cycle in gastric cancer. 23835524

2013
dbSNP: rs1566446604
rs1566446604
CHD8
G 0.700 CausalMutation CLINVAR Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations. 22495309

2012
dbSNP: rs1566446604
rs1566446604
CHD8
G 0.700 CausalMutation CLINVAR Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders. 23160955

2012
dbSNP: rs774152851
rs774152851
CHD8 ; SNORD9
CG 0.700 CausalMutation CLINVAR Histone H1 recruitment by CHD8 is essential for suppression of the Wnt-β-catenin signaling pathway. 22083958

2012
dbSNP: rs774152851
rs774152851
CHD8 ; SNORD9
CG 0.700 CausalMutation CLINVAR Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders. 23160955

2012
dbSNP: rs774152851
rs774152851
CHD8 ; SNORD9
CG 0.700 CausalMutation CLINVAR De novo mutations revealed by whole-exome sequencing are strongly associated with autism. 22495306

2012
dbSNP: rs774152851
rs774152851
CHD8 ; SNORD9
CG 0.700 CausalMutation CLINVAR Genetic and expressional alterations of CHD genes in gastric and colorectal cancers. 21447119

2011
dbSNP: rs774152851
rs774152851
CHD8 ; SNORD9
CG 0.700 CausalMutation CLINVAR CHD8 is an ATP-dependent chromatin remodeling factor that regulates beta-catenin target genes. 18378692

2008