Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1114167891
rs1114167891
Entrez Id: 8473
Gene Symbol: OGT
OGT
CUI: C4478379
Disease:
MENTAL RETARDATION, X-LINKED 106 		C 0.800 CausalMutation CLINVAR Mutations in N-acetylglucosamine (O-GlcNAc) transferase in patients with X-linked intellectual disability. 28584052 2017
dbSNP: rs1114167891
rs1114167891
Entrez Id: 8473
Gene Symbol: OGT
OGT
CUI: C4478379
Disease:
MENTAL RETARDATION, X-LINKED 106 		0.800 GeneticVariation UNIPROT
dbSNP: rs1131692155
rs1131692155
Entrez Id: 8473
Gene Symbol: OGT
OGT
CUI: C4478379
Disease:
MENTAL RETARDATION, X-LINKED 106 		T 0.800 CausalMutation CLINVAR
dbSNP: rs1131692155
rs1131692155
Entrez Id: 8473
Gene Symbol: OGT
OGT
CUI: C4478379
Disease:
MENTAL RETARDATION, X-LINKED 106 		0.800 GeneticVariation UNIPROT
dbSNP: rs943295842
rs943295842
Entrez Id: 8473
Gene Symbol: OGT
OGT
CUI: C4478379
Disease:
MENTAL RETARDATION, X-LINKED 106 		G 0.700 CausalMutation CLINVAR
dbSNP: rs1114167891
rs1114167891
Entrez Id: 8473
Gene Symbol: OGT
OGT
CUI: C0432072
Disease:
Dysmorphic features 		0.010 GeneticVariation BEFREE Here, we report on two hemizygous mutations in <i>OGT</i> in individuals with X-linked intellectual disability (XLID) and dysmorphic features: one missense mutation (p.Arg284Pro) and one mutation leading to a splicing defect (c.463-6T>G). 28584052 2017