Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.430 GeneticVariation disease BEFREE To delineate the phenotype of early childhood epileptic encephalopathy due to de novo mutations of CHD2, which encodes the chromodomain helicase DNA binding protein 2. 25672921 2015
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.430 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: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.430 GeneticVariation disease BEFREE Photosensitivity is prominent in a very rare epileptic encephalopathy due to de novo CHD2 mutations, but is also seen in epileptic encephalopathies due to other gene mutations. 25783594 2015
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.400 GeneticVariation disease BEFREE Deletion of the RMGA and CHD2 genes in a child with epilepsy and mental deficiency. 22178256 2012
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.400 Biomarker disease BEFREE CHD2 haploinsufficiency is known to cause intellectual disability and epilepsy, RGMA haploinsufficiency might explain truncal obesity with onset around puberty observed in our two patients. 24932903 2014
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.400 Biomarker disease 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: C0014544
Disease: Epilepsy
Epilepsy 		0.400 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: C0014544
Disease: Epilepsy
Epilepsy 		0.400 Biomarker disease BEFREE Single variants were found in some known epilepsy-associated genes (namely CHD2, KCNT1, KCNA2 and STXBP1) but not in others (SLC2A1 and SLC6A1). 31170314 2019
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.400 Biomarker disease BEFREE The patient had prominent myoclonic seizures and photosensitivity, thus, sharing phenotypic features with previously reported patients with CHD2-related epilepsy. 24614520 2014
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.400 GeneticVariation disease BEFREE Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1. 23708187 2013
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.400 Biomarker disease BEFREE We compared CHD2 sequence data to publicly available data from 34 427 individuals, not enriched for epilepsy. 25783594 2015
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.400 Biomarker disease BEFREE We also consider how CHD2 depletion can affect each of these biological mechanisms and how these defects may underpin neurodevelopmental disorders including epilepsy. 29962935 2018
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.400 GeneticVariation disease BEFREE CHD2 mutations were identified by application of next-generation sequencing of epilepsy or whole exome sequencing. 31677157 2019
CUI: C1535926
Disease: Neurodevelopmental Disorders
Neurodevelopmental Disorders 		0.360 GeneticVariation group BEFREE PMMs were identified in previously implicated high-confidence neurodevelopmental disorder risk genes, such as CHD2, CTNNB1, SCN2A, and SYNGAP1, as well as candidate risk genes with predicted functions in chromatin remodeling or neurodevelopment, including ACTL6B, BAZ2B, COL5A3, SSRP1, and UNC79. 28867142 2017
CUI: C1535926
Disease: Neurodevelopmental Disorders
Neurodevelopmental Disorders 		0.360 GeneticVariation group BEFREE Considerable evidence suggests loss-of-function mutations in the chromatin remodeler CHD2 contribute to a broad spectrum of human neurodevelopmental disorders. 30344048 2018
CUI: C1535926
Disease: Neurodevelopmental Disorders
Neurodevelopmental Disorders 		0.360 Biomarker group BEFREE This case demonstrates intrafamilial phenotypic heterogeneity and confirms potential heritability of CHD2-related neurodevelopmental disorders. 29740950 2018
CUI: C1535926
Disease: Neurodevelopmental Disorders
Neurodevelopmental Disorders 		0.360 Biomarker group BEFREE We also consider how CHD2 depletion can affect each of these biological mechanisms and how these defects may underpin neurodevelopmental disorders including epilepsy. 29962935 2018
CUI: C1535926
Disease: Neurodevelopmental Disorders
Neurodevelopmental Disorders 		0.360 GeneticVariation group BEFREE Three sub-groups of patients were highlighted: (i) severe, symptomatic chronic neutropenia, detected early in life, and related to a known mutation in the CN spectrum (ELANE); (ii) mild to moderate benign intermittent neutropenia, detected later, and associated with mutations in genes implicated in neurodevelopmental disorders (CHD2, HUWE1); and (iii) moderate to severe intermittent neutropenia as a probably undiagnosed feature of a newly reported syndrome (KAT6A). 27615324 2017
CUI: C1535926
Disease: Neurodevelopmental Disorders
Neurodevelopmental Disorders 		0.360 GeneticVariation group BEFREE Mutations in the chromodomain helicase DNA-binding 2 (CHD2) gene have been found in patients with a range of neurodevelopmental disorders.In this issue of Neuron, Kim et al. 30521773 2018
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		0.330 GeneticVariation disease BEFREE Pathogenic CNVs, often showing variable expressivity, included rare de novo and inherited events at 36 loci, implicating ASD-associated genes (CHD2, HDAC4, and GDI1) previously linked to other neurodevelopmental disorders, as well as other genes such as SETD5, MIR137, and HDAC9. 24768552 2014
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		0.330 Biomarker disease 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: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		0.330 GeneticVariation disease 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: C0238111
Disease: Lennox-Gastaut syndrome
Lennox-Gastaut syndrome 		0.320 GeneticVariation disease BEFREE Only one CHD2 mutation was detected in patients with Lennox-Gastaut syndrome. 29314583 2018
CUI: C0238111
Disease: Lennox-Gastaut syndrome
Lennox-Gastaut syndrome 		0.320 GeneticVariation disease BEFREE Our findings suggest that CHD2 mutations are important in the etiological spectrum of LGS. 24614520 2014
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome 		0.220 Biomarker disease BEFREE The deletion encompasses only 2 genes: CHD2, which is part of a gene family already involved in CHARGE syndrome, and RGMA which exerts a negative control on axon growth. 22178256 2012