Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1377989582
rs1377989582
CHD4
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		G 0.700 GeneticVariation CLINVAR Prevalence and architecture of de novo mutations in developmental disorders. 28135719

2017
dbSNP: rs1377989582
rs1377989582
CHD4
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		G 0.700 GeneticVariation CLINVAR Genes with de novo mutations are shared by four neuropsychiatric disorders discovered from NPdenovo database. 25849321

2016
dbSNP: rs1377989582
rs1377989582
CHD4
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		G 0.700 GeneticVariation CLINVAR Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing. 27479907

2016
dbSNP: rs1377989582
rs1377989582
CHD4
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		G 0.700 GeneticVariation CLINVAR De Novo Mutations in CHD4, an ATP-Dependent Chromatin Remodeler Gene, Cause an Intellectual Disability Syndrome with Distinctive Dysmorphisms. 27616479

2016
dbSNP: rs1377989582
rs1377989582
CHD4
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		G 0.700 GeneticVariation CLINVAR Chromatin remodeling inactivates activity genes and regulates neural coding. 27418512

2016
dbSNP: rs1377989582
rs1377989582
CHD4
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		G 0.700 GeneticVariation CLINVAR Constraint of gene expression by the chromatin remodelling protein CHD4 facilitates lineage specification. 26116663

2015
dbSNP: rs1377989582
rs1377989582
CHD4
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		G 0.700 GeneticVariation CLINVAR The NuRD chromatin-remodeling enzyme CHD4 promotes embryonic vascular integrity by transcriptionally regulating extracellular matrix proteolysis. 24348274

2013
dbSNP: rs1377989582
rs1377989582
CHD4
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		G 0.700 GeneticVariation CLINVAR The nucleosome remodeling and deacetylase chromatin remodeling (NuRD) complex is required for peripheral nerve myelination. 22302795

2012
dbSNP: rs1377989582
rs1377989582
CHD4
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		G 0.700 GeneticVariation CLINVAR Regulation of DNA-damage responses and cell-cycle progression by the chromatin remodelling factor CHD4. 20693977

2010