Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 8831
Gene Symbol: SYNGAP1
SYNGAP1 		0.700 CausalMutation disease CLINVAR Genomic diagnosis for children with intellectual disability and/or developmental delay. 28554332 2017
Entrez Id: 8831
Gene Symbol: SYNGAP1
SYNGAP1 		0.700 CausalMutation disease CLINVAR Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy. 26795593 2016
Entrez Id: 8831
Gene Symbol: SYNGAP1
SYNGAP1 		0.700 CausalMutation disease CLINVAR Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy. 26989088 2016
Entrez Id: 8831
Gene Symbol: SYNGAP1
SYNGAP1 		0.700 CausalMutation disease CLINVAR Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions. 25356970 2015
Entrez Id: 8831
Gene Symbol: SYNGAP1
SYNGAP1 		0.700 CausalMutation disease CLINVAR Recurrent de novo mutations implicate novel genes underlying simplex autism risk. 25418537 2014
Entrez Id: 8831
Gene Symbol: SYNGAP1
SYNGAP1 		0.700 CausalMutation disease CLINVAR Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing. 25167861 2014
Entrez Id: 8831
Gene Symbol: SYNGAP1
SYNGAP1 		0.700 GeneticVariation disease UNIPROT Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1. 23708187 2013
Entrez Id: 8831
Gene Symbol: SYNGAP1
SYNGAP1 		0.700 CausalMutation disease CLINVAR Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1. 23708187 2013
Entrez Id: 8831
Gene Symbol: SYNGAP1
SYNGAP1 		0.700 GeneticVariation disease UNIPROT Mutations in SYNGAP1 cause intellectual disability, autism, and a specific form of epilepsy by inducing haploinsufficiency. 23161826 2013
Entrez Id: 8831
Gene Symbol: SYNGAP1
SYNGAP1 		0.700 CausalMutation disease CLINVAR Mutations in SYNGAP1 cause intellectual disability, autism, and a specific form of epilepsy by inducing haploinsufficiency. 23161826 2013
Entrez Id: 8831
Gene Symbol: SYNGAP1
SYNGAP1 		0.700 Biomarker disease GENOMICS_ENGLAND Pathogenic SYNGAP1 mutations impair cognitive development by disrupting maturation of dendritic spine synapses. 23141534 2012
Entrez Id: 8831
Gene Symbol: SYNGAP1
SYNGAP1 		0.700 GeneticVariation disease UNIPROT De novo SYNGAP1 mutations in nonsyndromic intellectual disability and autism. 21237447 2011
Entrez Id: 8831
Gene Symbol: SYNGAP1
SYNGAP1 		0.700 GeneticVariation disease UNIPROT A de novo paradigm for mental retardation. 21076407 2010
Entrez Id: 8831
Gene Symbol: SYNGAP1
SYNGAP1 		0.700 CausalMutation disease CLINVAR Mutations in SYNGAP1 in autosomal nonsyndromic mental retardation. 19196676 2009
Entrez Id: 8831
Gene Symbol: SYNGAP1
SYNGAP1 		0.700 GeneticVariation disease UNIPROT Mutations in SYNGAP1 in autosomal nonsyndromic mental retardation. 19196676 2009
Entrez Id: 8831
Gene Symbol: SYNGAP1
SYNGAP1 		0.700 GeneticVariation disease CLINVAR
Entrez Id: 8831
Gene Symbol: SYNGAP1
SYNGAP1 		0.700 Biomarker disease CTD_human