Source: CURATED ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2675473
Disease: Mental Retardation, Autosomal Dominant 5
Mental Retardation, Autosomal Dominant 5 		0.700 GeneticVariation disease UNIPROT Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1. 23708187 2013
CUI: C2675473
Disease: Mental Retardation, Autosomal Dominant 5
Mental Retardation, Autosomal Dominant 5 		0.700 GeneticVariation disease UNIPROT Mutations in SYNGAP1 cause intellectual disability, autism, and a specific form of epilepsy by inducing haploinsufficiency. 23161826 2013
CUI: C2675473
Disease: Mental Retardation, Autosomal Dominant 5
Mental Retardation, Autosomal Dominant 5 		0.700 Biomarker disease GENOMICS_ENGLAND Pathogenic SYNGAP1 mutations impair cognitive development by disrupting maturation of dendritic spine synapses. 23141534 2012
CUI: C2675473
Disease: Mental Retardation, Autosomal Dominant 5
Mental Retardation, Autosomal Dominant 5 		0.700 GeneticVariation disease UNIPROT De novo SYNGAP1 mutations in nonsyndromic intellectual disability and autism. 21237447 2011
CUI: C2675473
Disease: Mental Retardation, Autosomal Dominant 5
Mental Retardation, Autosomal Dominant 5 		0.700 GeneticVariation disease UNIPROT A de novo paradigm for mental retardation. 21076407 2010
CUI: C2675473
Disease: Mental Retardation, Autosomal Dominant 5
Mental Retardation, Autosomal Dominant 5 		0.700 GeneticVariation disease UNIPROT Mutations in SYNGAP1 in autosomal nonsyndromic mental retardation. 19196676 2009
CUI: C2675473
Disease: Mental Retardation, Autosomal Dominant 5
Mental Retardation, Autosomal Dominant 5 		0.700 Biomarker disease CTD_human
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.630 Biomarker disease PSYGENET Reduced expression of the NMDA receptor-interacting protein SynGAP causes behavioral abnormalities that model symptoms of Schizophrenia. 19145222 2009
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.500 Biomarker group CTD_human A de novo paradigm for mental retardation. 21076407 2010
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.430 Biomarker disease CTD_human Functional impact of global rare copy number variation in autism spectrum disorders. 20531469 2010
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.400 Biomarker disease GENOMICS_ENGLAND Pathogenic SYNGAP1 mutations impair cognitive development by disrupting maturation of dendritic spine synapses. 23141534 2012
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.400 Biomarker disease GENOMICS_ENGLAND
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.380 Biomarker disease CTD_human De novo variants in neurodevelopmental disorders with epilepsy. 29942082 2018
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.380 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: C1535926
Disease: Neurodevelopmental Disorders
Neurodevelopmental Disorders 		0.330 Biomarker group CTD_human De novo variants in neurodevelopmental disorders with epilepsy. 29942082 2018
CUI: C1535926
Disease: Neurodevelopmental Disorders
Neurodevelopmental Disorders 		0.330 Biomarker group CTD_human Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases. 28191889 2017
CUI: C0086237
Disease: Epilepsy, Cryptogenic
Epilepsy, Cryptogenic 		0.300 Biomarker disease CTD_human De novo variants in neurodevelopmental disorders with epilepsy. 29942082 2018
CUI: C0236018
Disease: Aura
Aura 		0.300 Biomarker phenotype CTD_human De novo variants in neurodevelopmental disorders with epilepsy. 29942082 2018
CUI: C0751111
Disease: Awakening Epilepsy
Awakening Epilepsy 		0.300 Biomarker disease CTD_human De novo variants in neurodevelopmental disorders with epilepsy. 29942082 2018
CUI: C0086237
Disease: Epilepsy, Cryptogenic
Epilepsy, Cryptogenic 		0.300 Biomarker disease CTD_human Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1. 23708187 2013
CUI: C0236018
Disease: Aura
Aura 		0.300 Biomarker phenotype CTD_human Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1. 23708187 2013
CUI: C0751111
Disease: Awakening Epilepsy
Awakening Epilepsy 		0.300 Biomarker disease CTD_human Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1. 23708187 2013
CUI: C0020796
Disease: Profound Mental Retardation
Profound Mental Retardation 		0.300 Biomarker disease CTD_human A de novo paradigm for mental retardation. 21076407 2010
CUI: C0025363
Disease: Mental Retardation, Psychosocial
Mental Retardation, Psychosocial 		0.300 Biomarker phenotype CTD_human A de novo paradigm for mental retardation. 21076407 2010
CUI: C0917816
Disease: Mental deficiency
Mental deficiency 		0.300 Biomarker disease CTD_human A de novo paradigm for mental retardation. 21076407 2010