Disease: Mental Retardation, Autosomal Dominant 5 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397514670
rs397514670
Entrez Id: 8831
Gene Symbol: SYNGAP1
SYNGAP1
CUI: C2675473
Disease:
Mental Retardation, Autosomal Dominant 5 		T 0.800 CausalMutation CLINVAR Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy. 26989088 2016
dbSNP: rs397514670
rs397514670
Entrez Id: 8831
Gene Symbol: SYNGAP1
SYNGAP1
CUI: C2675473
Disease:
Mental Retardation, Autosomal Dominant 5 		0.800 GeneticVariation UNIPROT Mutations in SYNGAP1 cause intellectual disability, autism, and a specific form of epilepsy by inducing haploinsufficiency. 23161826 2013
dbSNP: rs397514670
rs397514670
Entrez Id: 8831
Gene Symbol: SYNGAP1
SYNGAP1
CUI: C2675473
Disease:
Mental Retardation, Autosomal Dominant 5 		0.800 GeneticVariation UNIPROT Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1. 23708187 2013
dbSNP: rs397514670
rs397514670
Entrez Id: 8831
Gene Symbol: SYNGAP1
SYNGAP1
CUI: C2675473
Disease:
Mental Retardation, Autosomal Dominant 5 		T 0.800 CausalMutation CLINVAR Mutations in SYNGAP1 cause intellectual disability, autism, and a specific form of epilepsy by inducing haploinsufficiency. 23161826 2013
dbSNP: rs397514670
rs397514670
Entrez Id: 8831
Gene Symbol: SYNGAP1
SYNGAP1
CUI: C2675473
Disease:
Mental Retardation, Autosomal Dominant 5 		0.800 GeneticVariation UNIPROT De novo SYNGAP1 mutations in nonsyndromic intellectual disability and autism. 21237447 2011
dbSNP: rs397514670
rs397514670
Entrez Id: 8831
Gene Symbol: SYNGAP1
SYNGAP1
CUI: C2675473
Disease:
Mental Retardation, Autosomal Dominant 5 		0.800 GeneticVariation UNIPROT A de novo paradigm for mental retardation. 21076407 2010
dbSNP: rs397514670
rs397514670
Entrez Id: 8831
Gene Symbol: SYNGAP1
SYNGAP1
CUI: C2675473
Disease:
Mental Retardation, Autosomal Dominant 5 		0.800 GeneticVariation UNIPROT Mutations in SYNGAP1 in autosomal nonsyndromic mental retardation. 19196676 2009