Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4310688
Disease: SIFRIM-HITZ-WEISS SYNDROME
SIFRIM-HITZ-WEISS SYNDROME 		0.600 CausalMutation disease CLINVAR
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation group CLINVAR Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing. 27479907 2016
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation group CLINVAR Regulation of DNA-damage responses and cell-cycle progression by the chromatin remodelling factor CHD4. 20693977 2010
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation group CLINVAR The NuRD chromatin-remodeling enzyme CHD4 promotes embryonic vascular integrity by transcriptionally regulating extracellular matrix proteolysis. 24348274 2013
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation group CLINVAR De Novo Mutations in CHD4, an ATP-Dependent Chromatin Remodeler Gene, Cause an Intellectual Disability Syndrome with Distinctive Dysmorphisms. 27616479 2016
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation group CLINVAR Genes with de novo mutations are shared by four neuropsychiatric disorders discovered from NPdenovo database. 25849321 2016
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation group CLINVAR Constraint of gene expression by the chromatin remodelling protein CHD4 facilitates lineage specification. 26116663 2015
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation group CLINVAR Chromatin remodeling inactivates activity genes and regulates neural coding. 27418512 2016
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation group CLINVAR Prevalence and architecture of de novo mutations in developmental disorders. 28135719 2017
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation group CLINVAR The nucleosome remodeling and deacetylase chromatin remodeling (NuRD) complex is required for peripheral nerve myelination. 22302795 2012
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation disease CLINVAR De Novo Mutations in CHD4, an ATP-Dependent Chromatin Remodeler Gene, Cause an Intellectual Disability Syndrome with Distinctive Dysmorphisms. 27616479 2016
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation disease CLINVAR Chromatin remodeling inactivates activity genes and regulates neural coding. 27418512 2016
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation disease CLINVAR Prevalence and architecture of de novo mutations in developmental disorders. 28135719 2017
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation disease CLINVAR The NuRD chromatin-remodeling enzyme CHD4 promotes embryonic vascular integrity by transcriptionally regulating extracellular matrix proteolysis. 24348274 2013
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation disease CLINVAR The nucleosome remodeling and deacetylase chromatin remodeling (NuRD) complex is required for peripheral nerve myelination. 22302795 2012
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation disease CLINVAR Genes with de novo mutations are shared by four neuropsychiatric disorders discovered from NPdenovo database. 25849321 2016
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation disease CLINVAR Constraint of gene expression by the chromatin remodelling protein CHD4 facilitates lineage specification. 26116663 2015
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation disease CLINVAR Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing. 27479907 2016
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation disease CLINVAR Regulation of DNA-damage responses and cell-cycle progression by the chromatin remodelling factor CHD4. 20693977 2010
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.070 AlteredExpression group BEFREE Based on The Cancer Genome Atlas and Rembrandt datasets, CHD4 expression is associated with poor prognosis in patients. 30872624 2019
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.070 AlteredExpression group BEFREE We find that CHD4 depletion induces up-regulation of the cancer stem cell (CSC) marker CD133. 29888111 2018
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.070 AlteredExpression group BEFREE Based on The Cancer Genome Atlas and Rembrandt datasets, CHD4 expression is associated with poor prognosis in patients. 30872624 2019
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.070 AlteredExpression group BEFREE We find that CHD4 depletion induces up-regulation of the cancer stem cell (CSC) marker CD133. 29888111 2018
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.050 AlteredExpression group BEFREE A high expression of CHD4 was significantly associated with pre-treatment tumor status (<i>p</i> < 0.001) and lymph node metastasis (<i>p</i> < 0.001), post-treatment tumor status (<i>p</i> < 0.001), and lymph node metastasis (<i>p</i> < 0.001), vascular invasion (<i>p</i> = 0.042), and tumor regression grade (<i>p</i> = 0.001). 31438571 2019
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma 		0.020 AlteredExpression disease BEFREE CHD4 regulates the DNA damage response and RAD51 expression in glioblastoma. 30872624 2019