Disease: Mental Retardation, Autosomal Dominant 5 ×
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