Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0027765
Disease: nervous system disorder
nervous system disorder 		0.010 Biomarker group BEFREE Chromodomain helicase DNA binding protein 2 (Chd2) is a chromatin remodeller implicated in neurological disease. 31704914 2019
CUI: C0037769
Disease: West Syndrome
West Syndrome 		0.010 GeneticVariation disease BEFREE West syndrome was observed as a new phenotype of CHD2 mutation. 31677157 2019
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.010 Biomarker disease BEFREE Quantitative Real Time-Polymerase Chain Reaction (qRT-PCR) was used to detect the expressions of circUBAP2, microRNA-144 and CHD2 in OC tissues and adjacent normal tissues. 31539115 2019
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		0.010 Biomarker disease BEFREE Quantitative Real Time-Polymerase Chain Reaction (qRT-PCR) was used to detect the expressions of circUBAP2, microRNA-144 and CHD2 in OC tissues and adjacent normal tissues. 31539115 2019
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial 		0.010 Biomarker disease BEFREE Quantitative Real Time-Polymerase Chain Reaction (qRT-PCR) was used to detect the expressions of circUBAP2, microRNA-144 and CHD2 in OC tissues and adjacent normal tissues. 31539115 2019
CUI: C0011265
Disease: Presenile dementia
Presenile dementia 		0.010 Biomarker disease BEFREE These results suggest that CH CHD2 gene play an important role in other neurodegenerative disorders from our dementia study in China. 29376860 2018
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		0.010 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: C0233794
Disease: Memory impairment
Memory impairment 		0.010 Biomarker phenotype BEFREE Our results provide initial insight into how Chd2 haploinsufficiency leads to aberrant cortical network function and impaired memory. 30344048 2018
CUI: C0497327
Disease: Dementia
Dementia 		0.010 Biomarker disease BEFREE These results suggest that CH CHD2 gene play an important role in other neurodegenerative disorders from our dementia study in China. 29376860 2018
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders 		0.010 Biomarker group BEFREE These results suggest that CH CHD2 gene play an important role in other neurodegenerative disorders from our dementia study in China. 29376860 2018
CUI: C2748208
Disease: Executive dysfunction
Executive dysfunction 		0.010 GeneticVariation disease BEFREE Mutations in the CHD2 gene have been linked to developmental delay, intellectual disability, autism and seizures, CHD8 mutations to autism and intellectual disability, whereas haploinsufficiency of CHD7 is associated with executive dysfunction and intellectual disability. 30277262 2018
CUI: C4317123
Disease: Myoclonic Seizures
Myoclonic Seizures 		0.010 GeneticVariation phenotype BEFREE We report the case of a child with CHD2 mutation and mild developmental impairment that since the age of 3 years started with myoclonic seizures apparently well responding to antiepileptic drugs and that subsequently developed intractable self-induced seizures. 29529558 2018
CUI: C0023530
Disease: Leukopenia
Leukopenia 		0.010 Biomarker disease 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: C0027947
Disease: Neutropenia
Neutropenia 		0.010 Biomarker disease 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: C0340970
Disease: Congenital neutropenia
Congenital neutropenia 		0.010 GeneticVariation disease 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: C1853118
Disease: Severe congenital neutropenia
Severe congenital neutropenia 		0.010 GeneticVariation phenotype 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: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 Biomarker group 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: C0393720
Disease: Reflex Epilepsy, Photosensitive
Reflex Epilepsy, Photosensitive 		0.010 GeneticVariation disease BEFREE Among epilepsy syndromes, there was over-representation of unique CHD2 variants (3/36 cases) in the archetypal photosensitive epilepsy syndrome, eyelid myoclonia with absences (P = 3.50 × 10(-4)). 25783594 2015
CUI: C0438414
Disease: Myoclonic Encephalopathy
Myoclonic Encephalopathy 		0.010 Biomarker disease BEFREE CHD2 myoclonic encephalopathy is frequently associated with self-induced seizures. 25672921 2015
CUI: C0751349
Disease: Myoclonus, Eyelid
Myoclonus, Eyelid 		0.010 GeneticVariation phenotype BEFREE Among epilepsy syndromes, there was over-representation of unique CHD2 variants (3/36 cases) in the archetypal photosensitive epilepsy syndrome, eyelid myoclonia with absences (P = 3.50 × 10(-4)). 25783594 2015
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.010 Biomarker group 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: C4085238
Disease: MYOCLONIC-ATONIC EPILEPSY
MYOCLONIC-ATONIC EPILEPSY 		0.010 GeneticVariation disease BEFREE The aim of this study was to assess the impact of CHD2 mutations in a series of patients with MAE. 26262932 2015
CUI: C4727877
Disease: Epilepsy with myoclonic-atonic seizures
Epilepsy with myoclonic-atonic seizures 		0.010 GeneticVariation disease BEFREE CHD2 mutations are a rare cause of generalized epilepsy with myoclonic-atonic seizures. 26262932 2015
CUI: C0028754
Disease: Obesity
Obesity 		0.010 GeneticVariation 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: C4021107
Disease: Non-obstructive azoospermia
Non-obstructive azoospermia 		0.010 GeneticVariation disease BEFREE Combined analysis using directly genotyped data for Stages 1 and 2 revealed that rs1406714 in CHD2 was associated with decreased risk of NOA [odds ratio (OR) = 0.78, 95% confidence interval (CI) = 0.68-0.89, Pmeta = 1.7E-04], whereas rs2126986 in GNAO1 and rs7226979 in BCL2 were both risk makers for NOA (rs2126986: OR = 1.28, 95% CI = 1.15-1.41, Pmeta = 2.3E-06; rs7226979: OR = 1.21, 95% CI = 1.11-1.33, Pmeta = 4.5E-05). 24549219 2014