Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1060499583
rs1060499583
Entrez Id: 1108
Gene Symbol: CHD4
CHD4
CUI: C4310688
Disease:
SIFRIM-HITZ-WEISS SYNDROME 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs1377989582
rs1377989582
Entrez Id: 1108
Gene Symbol: CHD4
CHD4
CUI: C0432072
Disease:
Dysmorphic features 		G 0.700 GeneticVariation CLINVAR Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing. 27479907 2016
dbSNP: rs1377989582
rs1377989582
Entrez Id: 1108
Gene Symbol: CHD4
CHD4
CUI: C0432072
Disease:
Dysmorphic features 		G 0.700 GeneticVariation CLINVAR Prevalence and architecture of de novo mutations in developmental disorders. 28135719 2017
dbSNP: rs1377989582
rs1377989582
Entrez Id: 1108
Gene Symbol: CHD4
CHD4
CUI: C0432072
Disease:
Dysmorphic features 		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
Entrez Id: 1108
Gene Symbol: CHD4
CHD4
CUI: C0000772
Disease:
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
Entrez Id: 1108
Gene Symbol: CHD4
CHD4
CUI: C0432072
Disease:
Dysmorphic features 		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
Entrez Id: 1108
Gene Symbol: CHD4
CHD4
CUI: C0432072
Disease:
Dysmorphic features 		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
Entrez Id: 1108
Gene Symbol: CHD4
CHD4
CUI: C0432072
Disease:
Dysmorphic features 		G 0.700 GeneticVariation CLINVAR Regulation of DNA-damage responses and cell-cycle progression by the chromatin remodelling factor CHD4. 20693977 2010
dbSNP: rs1377989582
rs1377989582
Entrez Id: 1108
Gene Symbol: CHD4
CHD4
CUI: C0432072
Disease:
Dysmorphic features 		G 0.700 GeneticVariation CLINVAR Chromatin remodeling inactivates activity genes and regulates neural coding. 27418512 2016
dbSNP: rs1377989582
rs1377989582
Entrez Id: 1108
Gene Symbol: CHD4
CHD4
CUI: C0432072
Disease:
Dysmorphic features 		G 0.700 GeneticVariation CLINVAR Constraint of gene expression by the chromatin remodelling protein CHD4 facilitates lineage specification. 26116663 2015
dbSNP: rs1377989582
rs1377989582
Entrez Id: 1108
Gene Symbol: CHD4
CHD4
CUI: C0432072
Disease:
Dysmorphic features 		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
Entrez Id: 1108
Gene Symbol: CHD4
CHD4
CUI: C0000772
Disease:
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
Entrez Id: 1108
Gene Symbol: CHD4
CHD4
CUI: C0000772
Disease:
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
Entrez Id: 1108
Gene Symbol: CHD4
CHD4
CUI: C0000772
Disease:
Multiple congenital anomalies 		G 0.700 GeneticVariation CLINVAR Chromatin remodeling inactivates activity genes and regulates neural coding. 27418512 2016
dbSNP: rs1377989582
rs1377989582
Entrez Id: 1108
Gene Symbol: CHD4
CHD4
CUI: C0000772
Disease:
Multiple congenital anomalies 		G 0.700 GeneticVariation CLINVAR Prevalence and architecture of de novo mutations in developmental disorders. 28135719 2017
dbSNP: rs1377989582
rs1377989582
Entrez Id: 1108
Gene Symbol: CHD4
CHD4
CUI: C0000772
Disease:
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
Entrez Id: 1108
Gene Symbol: CHD4
CHD4
CUI: C0000772
Disease:
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
Entrez Id: 1108
Gene Symbol: CHD4
CHD4
CUI: C0000772
Disease:
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
dbSNP: rs1377989582
rs1377989582
Entrez Id: 1108
Gene Symbol: CHD4
CHD4
CUI: C0000772
Disease:
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: rs1639122
rs1639122
Entrez Id: 1108
Gene Symbol: CHD4
CHD4
CUI: C0014772
Disease:
Red Blood Cell Count measurement 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs1639122
rs1639122
Entrez Id: 1108
Gene Symbol: CHD4
CHD4
CUI: C0006826
Disease:
Malignant Neoplasms 		0.010 GeneticVariation BEFREE The p.D140E was associated with the presence of cancer (adjusted odds ratio [OR], 2.17; 95% confidence interval [CI], 1.37-3.44, P = 0.001), but not p.E139D. 25407497 2015
dbSNP: rs1639122
rs1639122
Entrez Id: 1108
Gene Symbol: CHD4
CHD4
CUI: C1306459
Disease:
Primary malignant neoplasm 		0.010 GeneticVariation BEFREE The p.D140E was associated with the presence of cancer (adjusted odds ratio [OR], 2.17; 95% confidence interval [CI], 1.37-3.44, P = 0.001), but not p.E139D. 25407497 2015
dbSNP: rs201992075
rs201992075
Entrez Id: 1108;677780
Gene Symbol: CHD4;SCARNA11
CHD4;SCARNA11
CUI: C4310688
Disease:
SIFRIM-HITZ-WEISS SYNDROME 		T 0.800 CausalMutation CLINVAR
dbSNP: rs201992075
rs201992075
Entrez Id: 1108;677780
Gene Symbol: CHD4;SCARNA11
CHD4;SCARNA11
CUI: C4310688
Disease:
SIFRIM-HITZ-WEISS SYNDROME 		0.800 GeneticVariation UNIPROT
dbSNP: rs7308584
rs7308584
Entrez Id: 1108
Gene Symbol: CHD4
CHD4
CUI: C0427460
Disease:
Red cell distribution width determination 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019