Disease: Multiple congenital anomalies ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1554121353
rs1554121353
Entrez Id: 8831;100847012
Gene Symbol: SYNGAP1;MIR5004
SYNGAP1;MIR5004
CUI: C0000772
Disease:
Multiple congenital anomalies 		G 0.700 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
dbSNP: rs1554121353
rs1554121353
Entrez Id: 8831;100847012
Gene Symbol: SYNGAP1;MIR5004
SYNGAP1;MIR5004
CUI: C0000772
Disease:
Multiple congenital anomalies 		G 0.700 CausalMutation CLINVAR Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy. 26989088 2016
dbSNP: rs1554121353
rs1554121353
Entrez Id: 8831;100847012
Gene Symbol: SYNGAP1;MIR5004
SYNGAP1;MIR5004
CUI: C0000772
Disease:
Multiple congenital anomalies 		G 0.700 CausalMutation CLINVAR Decrease of SYNGAP1 in GABAergic cells impairs inhibitory synapse connectivity, synaptic inhibition and cognitive function. 27827368 2016
dbSNP: rs1554121353
rs1554121353
Entrez Id: 8831;100847012
Gene Symbol: SYNGAP1;MIR5004
SYNGAP1;MIR5004
CUI: C0000772
Disease:
Multiple congenital anomalies 		G 0.700 CausalMutation CLINVAR De novo, heterozygous, loss-of-function mutations in SYNGAP1 cause a syndromic form of intellectual disability. 26079862 2015
dbSNP: rs1554121353
rs1554121353
Entrez Id: 8831;100847012
Gene Symbol: SYNGAP1;MIR5004
SYNGAP1;MIR5004
CUI: C0000772
Disease:
Multiple congenital anomalies 		G 0.700 CausalMutation CLINVAR Large-scale discovery of novel genetic causes of developmental disorders. 25533962 2015
dbSNP: rs1554121353
rs1554121353
Entrez Id: 8831;100847012
Gene Symbol: SYNGAP1;MIR5004
SYNGAP1;MIR5004
CUI: C0000772
Disease:
Multiple congenital anomalies 		G 0.700 CausalMutation CLINVAR De novo mutations in epileptic encephalopathies. 23934111 2013
dbSNP: rs1554121353
rs1554121353
Entrez Id: 8831;100847012
Gene Symbol: SYNGAP1;MIR5004
SYNGAP1;MIR5004
CUI: C0000772
Disease:
Multiple congenital anomalies 		G 0.700 CausalMutation CLINVAR Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism. 24267886 2013
dbSNP: rs1554121353
rs1554121353
Entrez Id: 8831;100847012
Gene Symbol: SYNGAP1;MIR5004
SYNGAP1;MIR5004
CUI: C0000772
Disease:
Multiple congenital anomalies 		G 0.700 CausalMutation CLINVAR Mutations in SYNGAP1 cause intellectual disability, autism, and a specific form of epilepsy by inducing haploinsufficiency. 23161826 2013
dbSNP: rs1554121353
rs1554121353
Entrez Id: 8831;100847012
Gene Symbol: SYNGAP1;MIR5004
SYNGAP1;MIR5004
CUI: C0000772
Disease:
Multiple congenital anomalies 		G 0.700 CausalMutation CLINVAR Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1. 23708187 2013
dbSNP: rs1554121353
rs1554121353
Entrez Id: 8831;100847012
Gene Symbol: SYNGAP1;MIR5004
SYNGAP1;MIR5004
CUI: C0000772
Disease:
Multiple congenital anomalies 		G 0.700 CausalMutation CLINVAR Evolution and functional impact of rare coding variation from deep sequencing of human exomes. 22604720 2012
dbSNP: rs1554121353
rs1554121353
Entrez Id: 8831;100847012
Gene Symbol: SYNGAP1;MIR5004
SYNGAP1;MIR5004
CUI: C0000772
Disease:
Multiple congenital anomalies 		G 0.700 CausalMutation CLINVAR Pathogenic SYNGAP1 mutations impair cognitive development by disrupting maturation of dendritic spine synapses. 23141534 2012
dbSNP: rs1554121353
rs1554121353
Entrez Id: 8831;100847012
Gene Symbol: SYNGAP1;MIR5004
SYNGAP1;MIR5004
CUI: C0000772
Disease:
Multiple congenital anomalies 		G 0.700 CausalMutation CLINVAR Diagnostic exome sequencing in persons with severe intellectual disability. 23033978 2012
dbSNP: rs1554121353
rs1554121353
Entrez Id: 8831;100847012
Gene Symbol: SYNGAP1;MIR5004
SYNGAP1;MIR5004
CUI: C0000772
Disease:
Multiple congenital anomalies 		G 0.700 CausalMutation CLINVAR Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study. 23020937 2012
dbSNP: rs1554121353
rs1554121353
Entrez Id: 8831;100847012
Gene Symbol: SYNGAP1;MIR5004
SYNGAP1;MIR5004
CUI: C0000772
Disease:
Multiple congenital anomalies 		G 0.700 CausalMutation CLINVAR Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability. 21376300 2011
dbSNP: rs1554121353
rs1554121353
Entrez Id: 8831;100847012
Gene Symbol: SYNGAP1;MIR5004
SYNGAP1;MIR5004
CUI: C0000772
Disease:
Multiple congenital anomalies 		G 0.700 CausalMutation CLINVAR De novo SYNGAP1 mutations in nonsyndromic intellectual disability and autism. 21237447 2011
dbSNP: rs1554121353
rs1554121353
Entrez Id: 8831;100847012
Gene Symbol: SYNGAP1;MIR5004
SYNGAP1;MIR5004
CUI: C0000772
Disease:
Multiple congenital anomalies 		G 0.700 CausalMutation CLINVAR Functional impact of global rare copy number variation in autism spectrum disorders. 20531469 2010
dbSNP: rs1554121353
rs1554121353
Entrez Id: 8831;100847012
Gene Symbol: SYNGAP1;MIR5004
SYNGAP1;MIR5004
CUI: C0000772
Disease:
Multiple congenital anomalies 		G 0.700 CausalMutation CLINVAR Mutations in SYNGAP1 in autosomal nonsyndromic mental retardation. 19196676 2009
dbSNP: rs1554121353
rs1554121353
Entrez Id: 8831;100847012
Gene Symbol: SYNGAP1;MIR5004
SYNGAP1;MIR5004
CUI: C0000772
Disease:
Multiple congenital anomalies 		G 0.700 CausalMutation CLINVAR SynGAP-MUPP1-CaMKII synaptic complexes regulate p38 MAP kinase activity and NMDA receptor-dependent synaptic AMPA receptor potentiation. 15312654 2004