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: rs1554121189
rs1554121189
Entrez Id: 8831;100847012
Gene Symbol: SYNGAP1;MIR5004
SYNGAP1;MIR5004
CUI: C2675473
Disease:
Mental Retardation, Autosomal Dominant 5 		CCTGGATGA 0.700 CausalMutation CLINVAR Mutations in SYNGAP1 cause intellectual disability, autism, and a specific form of epilepsy by inducing haploinsufficiency. 23161826 2013
dbSNP: rs1554121189
rs1554121189
Entrez Id: 8831;100847012
Gene Symbol: SYNGAP1;MIR5004
SYNGAP1;MIR5004
CUI: C2675473
Disease:
Mental Retardation, Autosomal Dominant 5 		CCTGGATGA 0.700 CausalMutation CLINVAR Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1. 23708187 2013