×
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