Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET
0.600 CausalMutation disease CLINVAR Genetic Variants Identified from Epilepsy of Unknown Etiology in Chinese Children by Targeted Exome Sequencing. 28074849 2017
EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET
0.600 CausalMutation disease CLINVAR Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy. 26795593 2016
EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET
0.600 GeneticVariation disease UNIPROT De novo mutations in moderate or severe intellectual disability. 25356899 2014
EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET
0.600 CausalMutation disease CLINVAR De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome. 24207121 2013
EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET
0.600 GeneticVariation disease UNIPROT Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1. 23708187 2013
EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET
0.600 Biomarker disease GENOMICS_ENGLAND
EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET
0.600 GeneticVariation disease CLINVAR
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 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: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
0.430 Biomarker disease GENOMICS_ENGLAND Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1. 23708187 2013
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 Biomarker disease GENOMICS_ENGLAND
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
0.430 Biomarker disease HPO
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 GeneticVariation disease BEFREE CHD2 mutations were identified by application of next-generation sequencing of epilepsy or whole exome sequencing. 31677157 2019
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.400 Biomarker disease CTD_human De novo variants in neurodevelopmental disorders with epilepsy. 29942082 2018
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 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 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 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 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 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 CTD_human We show that de novo CHD2 and SYNGAP1 mutations are new causes of epileptic encephalopathies, accounting for 1.2% and 1% of cases, respectively. 23708187 2013
CUI: C0393702
Disease: Myoclonic Astatic Epilepsy
Myoclonic Astatic Epilepsy
0.400 GermlineCausalMutation disease ORPHANET Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1. 23708187 2013