Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0234533
Disease: Generalized seizures
Generalized seizures 		0.010 GeneticVariation disease BEFREE Our study provides evidence that de novo loss-of-function mutations in CHD2 are a cause of epileptic encephalopathy with generalized seizures. 24207121 2013
CUI: C0751122
Disease: Infantile Severe Myoclonic Epilepsy
Infantile Severe Myoclonic Epilepsy 		0.010 GeneticVariation disease BEFREE De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome. 24207121 2013
CUI: C1839333
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2 		0.010 GeneticVariation disease BEFREE De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome. 24207121 2013
CUI: C0917816
Disease: Mental deficiency
Mental deficiency 		0.010 GeneticVariation disease BEFREE Deletion of the RMGA and CHD2 genes in a child with epilepsy and mental deficiency. 22178256 2012
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.010 Biomarker disease BEFREE Chd2(+/m) mice showed pronounced lordokyphosis, reduced body fat, postnatal runting, and growth retardation. 18386809 2008
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		0.010 Biomarker disease BEFREE Disruption of chromodomain helicase DNA binding protein 2 (CHD2) causes scoliosis. 18386809 2008
CUI: C0235833
Disease: Congenital diaphragmatic hernia
Congenital diaphragmatic hernia 		0.010 Biomarker disease BEFREE The region contains four known genes, of which two--NR2F2 and CHD2--are particularly intriguing gene candidates for CDH. 15750894 2005
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.020 GeneticVariation group BEFREE Whole exome sequencing (n=22, with paired tumor/germline DNA) and/or targeted deep sequencing (n=24) showed recurrent mutations of epigenetic modifiers in 74% of cases, involving notably KMT2C (26%), KMT2D (9%), CHD2 (15%) and CREBBP (15%). 31774495 2020
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		0.020 Biomarker disease BEFREE In crude analyses, lowest survival rates (all-cause, CVD and CHD, p log-rank values <0.005) and higher hazard ratios of dying for all-cause and CVD (from 1 to 3 years) and for CHD (2 and 3 years) were observed. 29886570 2018
CUI: C0524528
Disease: Pervasive Development Disorder
Pervasive Development Disorder 		0.020 GeneticVariation group BEFREE Germline mosaicism for a novel missense variant p.Thr645Met located in the SNF2-related ATP dependent helicase domain of CHD2 in 2 affected siblings with autism spectrum disorder. 28960266 2017
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
Chronic Lymphocytic Leukemia 		0.020 Biomarker disease BEFREE In contrast, mutations in NOTCH1, SF3B1, POT1, FBXW7, MYD88, NXF1, XPO1, ZMYM3, or CHD2 were predominantly already clonal prior to therapy indicative of a pretreatment pathogenetic driver role in CLL. 27060156 2016
CUI: C0524528
Disease: Pervasive Development Disorder
Pervasive Development Disorder 		0.020 Biomarker group BEFREE This work underlines the importance to consider a CHD2 involvement in children with intellectual disability and autism spectrum disorder even in the absence of epilepsy at an early age. 26754451 2016
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
Chronic Lymphocytic Leukemia 		0.020 Biomarker disease BEFREE This is the first study providing functional evidence supporting CHD2 as a cancer driver and opens the way to further studies of the role of this chromatin remodeler in CLL. 26031915 2015
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.020 Biomarker group BEFREE Most of the mutations affecting CHD2, identified by whole-exome sequencing of 456 CLL and 43 MBL patients, are either truncating or affect conserved residues in functional domains, thus supporting a putative role for CHD2 as a tumor suppressor gene. 26031915 2015
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		0.020 GeneticVariation disease BEFREE Sixty-eight patients with CHD younger than 55 years (CHD1), 136 patients with CHD older than 65 years (CHD2), and 136 healthy subjects were enrolled, and their plasma levels of triglyceride (TG), total cholesterol (TC) and high density lipoprotein cholesterol (HDL-C) were determined. 11780396 2001
CUI: C0014548
Disease: Epilepsy, Generalized
Epilepsy, Generalized 		0.030 Biomarker disease BEFREE Recent studies suggest that CHD2 could be responsible for a proper phenotype characterized by infantile-onset generalized epilepsy, intellectual disability, and photosensitivity and in particular with self-induced seizures. 29529558 2018
CUI: C0014550
Disease: Myoclonic Epilepsy
Myoclonic Epilepsy 		0.030 GeneticVariation disease BEFREE Pathogenic variants in CHD2 (chromodomain helicase DNA-binding protein 2) have been reported in neurodevelopmental disorders with a broad spectrum of phenotypic variability, ranging from mild intellectual disability to atonic-myoclonic epilepsy. 29740950 2018
CUI: C0014550
Disease: Myoclonic Epilepsy
Myoclonic Epilepsy 		0.030 GeneticVariation disease BEFREE In conclusion our study adds relevant features of the CHD2-epilepsy phenotype and confirms that CHD2 mutations produce a distinctive form of myoclonic epilepsy with visual-sensitive seizures. 29529558 2018
CUI: C0014548
Disease: Epilepsy, Generalized
Epilepsy, Generalized 		0.030 Biomarker disease BEFREE Conversely, CHD2 could be responsible for a proper phenotype characterized by infantile-onset generalized epilepsy, intellectual disability, and photosensitivity, which might overlap with MAE, Lennox-Gastaut, Dravet, and Jeavons syndromes. 26262932 2015
CUI: C0014548
Disease: Epilepsy, Generalized
Epilepsy, Generalized 		0.030 GeneticVariation disease BEFREE We sought CHD2 variants in 238 exomes from familial genetic generalized epilepsies, and in other public exome data sets. 25783594 2015
CUI: C0014550
Disease: Myoclonic Epilepsy
Myoclonic Epilepsy 		0.030 Biomarker disease BEFREE The phenotypic spectrum of CHD2 encephalopathy has distinctive features of myoclonic epilepsy, marked clinical photosensitivity, atonic-myoclonic-absence, and intellectual disability ranging from mild to severe. 25672921 2015
CUI: C0036572
Disease: Seizures
Seizures 		0.040 GeneticVariation phenotype BEFREE In conclusion our study adds relevant features of the CHD2-epilepsy phenotype and confirms that CHD2 mutations produce a distinctive form of myoclonic epilepsy with visual-sensitive seizures. 29529558 2018
CUI: C0036572
Disease: Seizures
Seizures 		0.040 GeneticVariation phenotype BEFREE We determined whether CHD2 variation underlies photosensitivity in common epilepsies, specific photosensitive epilepsies and individuals with photosensitivity without seizures. 25783594 2015
CUI: C0036572
Disease: Seizures
Seizures 		0.040 Biomarker phenotype BEFREE CHD2 myoclonic encephalopathy is frequently associated with self-induced seizures. 25672921 2015
CUI: C0036572
Disease: Seizures
Seizures 		0.040 AlteredExpression phenotype BEFREE To explore the functional relevance of CHD2 haploinsufficiency in an in vivo model system, we knocked down chd2 in zebrafish by using targeted morpholino antisense oligomers. chd2-knockdown larvae exhibited altered locomotor activity, and the epileptic nature of this seizure-like behavior was confirmed by field-potential recordings that revealed epileptiform discharges similar to seizures in affected persons. 24207121 2013