Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 8831
Gene Symbol: SYNGAP1
SYNGAP1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR Analysis of 31-year-old patient with SYNGAP1 gene defect points to importance of variants in broader splice regions and reveals developmental trajectory of SYNGAP1-associated phenotype: case report. 28576131

2017
Entrez Id: 8831
Gene Symbol: SYNGAP1
SYNGAP1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy. 26989088

2016
Entrez Id: 8831
Gene Symbol: SYNGAP1
SYNGAP1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR Decrease of SYNGAP1 in GABAergic cells impairs inhibitory synapse connectivity, synaptic inhibition and cognitive function. 27827368

2016
Entrez Id: 8831
Gene Symbol: SYNGAP1
SYNGAP1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR Large-scale discovery of novel genetic causes of developmental disorders. 25533962

2015
Entrez Id: 8831
Gene Symbol: SYNGAP1
SYNGAP1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR De novo, heterozygous, loss-of-function mutations in SYNGAP1 cause a syndromic form of intellectual disability. 26079862

2015
Entrez Id: 8831
Gene Symbol: SYNGAP1
SYNGAP1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation 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
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR De novo mutations in epileptic encephalopathies. 23934111

2013
Entrez Id: 8831
Gene Symbol: SYNGAP1
SYNGAP1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism. 24267886

2013
Entrez Id: 8831
Gene Symbol: SYNGAP1
SYNGAP1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1. 23708187

2013
Entrez Id: 8831
Gene Symbol: SYNGAP1
SYNGAP1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR Pathogenic SYNGAP1 mutations impair cognitive development by disrupting maturation of dendritic spine synapses. 23141534

2012
Entrez Id: 8831
Gene Symbol: SYNGAP1
SYNGAP1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study. 23020937

2012
Entrez Id: 8831
Gene Symbol: SYNGAP1
SYNGAP1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR Evolution and functional impact of rare coding variation from deep sequencing of human exomes. 22604720

2012
Entrez Id: 8831
Gene Symbol: SYNGAP1
SYNGAP1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR Diagnostic exome sequencing in persons with severe intellectual disability. 23033978

2012
Entrez Id: 8831
Gene Symbol: SYNGAP1
SYNGAP1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR De novo SYNGAP1 mutations in nonsyndromic intellectual disability and autism. 21237447

2011
Entrez Id: 8831
Gene Symbol: SYNGAP1
SYNGAP1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability. 21376300

2011
Entrez Id: 8831
Gene Symbol: SYNGAP1
SYNGAP1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR Functional impact of global rare copy number variation in autism spectrum disorders. 20531469

2010
Entrez Id: 8831
Gene Symbol: SYNGAP1
SYNGAP1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR Mutations in SYNGAP1 in autosomal nonsyndromic mental retardation. 19196676

2009
Entrez Id: 8831
Gene Symbol: SYNGAP1
SYNGAP1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR SynGAP-MUPP1-CaMKII synaptic complexes regulate p38 MAP kinase activity and NMDA receptor-dependent synaptic AMPA receptor potentiation. 15312654

2004