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 GeneticVariation disease UNIPROT De Novo Mutations in CHD4, an ATP-Dependent Chromatin Remodeler Gene, Cause an Intellectual Disability Syndrome with Distinctive Dysmorphisms. 27616479 2016
CUI: C4310688
Disease: SIFRIM-HITZ-WEISS SYNDROME
SIFRIM-HITZ-WEISS SYNDROME 		0.600 GeneticVariation disease UNIPROT Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing. 27479907 2016
CUI: C4310688
Disease: SIFRIM-HITZ-WEISS SYNDROME
SIFRIM-HITZ-WEISS SYNDROME 		0.600 GeneticVariation disease CLINVAR
CUI: C4310688
Disease: SIFRIM-HITZ-WEISS SYNDROME
SIFRIM-HITZ-WEISS SYNDROME 		0.600 CausalMutation disease CLINVAR
CUI: C4310688
Disease: SIFRIM-HITZ-WEISS SYNDROME
SIFRIM-HITZ-WEISS SYNDROME 		0.600 Biomarker disease GENOMICS_ENGLAND
CUI: C4310688
Disease: SIFRIM-HITZ-WEISS SYNDROME
SIFRIM-HITZ-WEISS SYNDROME 		0.600 Biomarker disease GENOMICS_ENGLAND
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		0.330 GeneticVariation disease BEFREE Here, we characterise the effects of CHD4 mutations identified in endometrial carcinoma on the remodelling properties of dMi-2, the highly conserved Drosophila homologue of CHD4. 29844320 2018
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		0.330 GeneticVariation disease BEFREE CHD4 mutations promote endometrial cancer stemness by activating TGF-beta signaling. 29888111 2018
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		0.330 GeneticVariation disease BEFREE For the first time, we show that mutations in chromatin remodelling-related genes (KMT2D, KMT2C, SETD1B and BCOR) and in DNA-repair-related genes (BRCA1, BRCA2, RAD50 and CHD4) are frequent in this subtype of endometrial cancer. 27997699 2017
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		0.330 Biomarker disease CTD_human Exome sequencing of serous endometrial tumors identifies recurrent somatic mutations in chromatin-remodeling and ubiquitin ligase complex genes. 23104009 2012
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.300 Biomarker disease CTD_human Neurodevelopmental disease genes implicated by de novo mutation and copy number variation morbidity. 30559488 2019
CUI: C0008073
Disease: Developmental Disabilities
Developmental Disabilities 		0.300 Biomarker group CTD_human Neurodevelopmental disease genes implicated by de novo mutation and copy number variation morbidity. 30559488 2019
CUI: C0085996
Disease: Child Development Deviations
Child Development Deviations 		0.300 Biomarker disease CTD_human Neurodevelopmental disease genes implicated by de novo mutation and copy number variation morbidity. 30559488 2019
CUI: C0085997
Disease: Child Development Disorders, Specific
Child Development Disorders, Specific 		0.300 Biomarker disease CTD_human Neurodevelopmental disease genes implicated by de novo mutation and copy number variation morbidity. 30559488 2019
CUI: C0014170
Disease: Endometrial Neoplasms
Endometrial Neoplasms 		0.300 Biomarker group CTD_human Exome sequencing of serous endometrial tumors identifies recurrent somatic mutations in chromatin-remodeling and ubiquitin ligase complex genes. 23104009 2012
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.300 Biomarker disease CTD_human Increased exonic de novo mutation rate in individuals with schizophrenia. 21743468 2011
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.120 Biomarker group 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
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.120 GeneticVariation group BEFREE In addition to macrocephaly and intellectual disability, CHD3 variants are associated with inguinal hernias and apraxia of speech; whereas CHD4 variants are associated with skeletal anomalies, deafness, and cardiac defects. 31737996 2019
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.120 Biomarker group HPO
CUI: C0221355
Disease: Macrocephaly
Macrocephaly 		0.110 GeneticVariation disease BEFREE In addition to macrocephaly and intellectual disability, CHD3 variants are associated with inguinal hernias and apraxia of speech; whereas CHD4 variants are associated with skeletal anomalies, deafness, and cardiac defects. 31737996 2019
CUI: C0221355
Disease: Macrocephaly
Macrocephaly 		0.110 Biomarker disease HPO
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C1304746
Disease: RDW - Red blood cell distribution width result
RDW - Red blood cell distribution width result 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation group CLINVAR Prevalence and architecture of de novo mutations in developmental disorders. 28135719 2017