Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 8831
Gene Symbol: SYNGAP1
SYNGAP1
CUI: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly 		0.100 CausalMutation CLINVAR

Entrez Id: 8831
Gene Symbol: SYNGAP1
SYNGAP1
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		0.100 GeneticVariation CLINVAR

Entrez Id: 8831
Gene Symbol: SYNGAP1
SYNGAP1
CUI: C4021815
Disease: Abnormal palate morphology
Abnormal palate morphology 		0.100 CausalMutation CLINVAR

Entrez Id: 8831
Gene Symbol: SYNGAP1
SYNGAP1
CUI: C1860493
Disease: Abnormality of the sternum
Abnormality of the sternum 		0.100 GeneticVariation CLINVAR

Entrez Id: 8831
Gene Symbol: SYNGAP1
SYNGAP1
CUI: C1854882
Disease: Absent speech
Absent speech 		0.100 GeneticVariation CLINVAR

Entrez Id: 8831
Gene Symbol: SYNGAP1
SYNGAP1
CUI: C0001807
Disease: Aggressive behavior
Aggressive behavior 		0.100 GeneticVariation CLINVAR

Entrez Id: 8831
Gene Symbol: SYNGAP1
SYNGAP1
CUI: C0162635
Disease: Angelman Syndrome
Angelman Syndrome 		0.100 CausalMutation CLINVAR

Entrez Id: 8831
Gene Symbol: SYNGAP1
SYNGAP1
CUI: C0003079
Disease: Anisocoria
Anisocoria 		0.100 CausalMutation CLINVAR

Entrez Id: 8831
Gene Symbol: SYNGAP1
SYNGAP1
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		0.100 GeneticVariation CLINVAR

Entrez Id: 8831
Gene Symbol: SYNGAP1
SYNGAP1
CUI: C0006009
Disease: Borderline intellectual disability
Borderline intellectual disability 		0.100 CausalMutation CLINVAR

Entrez Id: 8831
Gene Symbol: SYNGAP1
SYNGAP1
CUI: C4025747
Disease: Bulbous tips of toes
Bulbous tips of toes 		0.100 GeneticVariation CLINVAR

Entrez Id: 8831
Gene Symbol: SYNGAP1
SYNGAP1
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		0.100 GeneticVariation CLINVAR

Entrez Id: 8831
Gene Symbol: SYNGAP1
SYNGAP1
CUI: C1859846
Disease: Childhood-onset truncal obesity
Childhood-onset truncal obesity 		0.100 CausalMutation CLINVAR

Entrez Id: 8831
Gene Symbol: SYNGAP1
SYNGAP1
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		0.100 CausalMutation CLINVAR

Entrez Id: 8831
Gene Symbol: SYNGAP1
SYNGAP1
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		0.100 CausalMutation CLINVAR

Entrez Id: 8831
Gene Symbol: SYNGAP1
SYNGAP1
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		0.100 GeneticVariation CLINVAR

Entrez Id: 8831
Gene Symbol: SYNGAP1
SYNGAP1
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		0.100 CausalMutation CLINVAR

Entrez Id: 8831
Gene Symbol: SYNGAP1
SYNGAP1
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		0.100 GeneticVariation CLINVAR

Entrez Id: 8831
Gene Symbol: SYNGAP1
SYNGAP1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		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: C0432072
Disease: Dysmorphic features
Dysmorphic features 		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: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation CLINVAR Diagnostic exome sequencing in persons with severe intellectual disability. 23033978

2012
Entrez Id: 8831
Gene Symbol: SYNGAP1
SYNGAP1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation CLINVAR De novo SYNGAP1 mutations in nonsyndromic intellectual disability and autism. 21237447

2011
Entrez Id: 8831
Gene Symbol: SYNGAP1
SYNGAP1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation CLINVAR Mutations in SYNGAP1 in autosomal nonsyndromic mental retardation. 19196676

2009
Entrez Id: 8831
Gene Symbol: SYNGAP1
SYNGAP1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation CLINVAR SynGAP-MUPP1-CaMKII synaptic complexes regulate p38 MAP kinase activity and NMDA receptor-dependent synaptic AMPA receptor potentiation. 15312654

2004
Entrez Id: 8831
Gene Symbol: SYNGAP1
SYNGAP1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation CLINVAR Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study. 23020937

2012