SMS, spermine synthase, 6611

N. diseases: 263; N. variants: 9
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs267607076
rs267607076
Entrez Id: 6611
Gene Symbol: SMS
SMS
CUI: C0796160
Disease:
MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE 		0.810 GeneticVariation BEFREE A missense mutation, p.V132G, in the X-linked spermine synthase gene (SMS) causes Snyder-Robinson syndrome. 19206178 2009
dbSNP: rs397515550
rs397515550
Entrez Id: 6611
Gene Symbol: SMS
SMS
CUI: C0796160
Disease:
MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE 		0.810 GeneticVariation BEFREE We describe the first Italian patient with Snyder-Robinson syndrome and a novel nonsense mutation in SMS (c.200G>A; p.G67X). 23897707 2013
dbSNP: rs397515553
rs397515553
Entrez Id: 6611
Gene Symbol: SMS
SMS
CUI: C0796160
Disease:
MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE 		0.810 GeneticVariation BEFREE A Y328C missense mutation in spermine synthase causes a mild form of Snyder-Robinson syndrome. 23696453 2013
dbSNP: rs121434610
rs121434610
Entrez Id: 6611
Gene Symbol: SMS
SMS
CUI: C0338656
Disease:
Impaired cognition 		0.010 GeneticVariation BEFREE This missense mutation, p.G56S, greatly reduces SMS activity and leads to severe epilepsy and cognitive impairment. 18550699 2008
dbSNP: rs121434610
rs121434610
Entrez Id: 6611
Gene Symbol: SMS
SMS
CUI: C0014544
Disease:
Epilepsy 		0.010 GeneticVariation BEFREE This missense mutation, p.G56S, greatly reduces SMS activity and leads to severe epilepsy and cognitive impairment. 18550699 2008
dbSNP: rs267607076
rs267607076
Entrez Id: 6611
Gene Symbol: SMS
SMS
CUI: C0796160
Disease:
MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE 		G 0.810 CausalMutation CLINVAR
dbSNP: rs397515550
rs397515550
Entrez Id: 6611
Gene Symbol: SMS
SMS
CUI: C0796160
Disease:
MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE 		A 0.810 CausalMutation CLINVAR
dbSNP: rs397515553
rs397515553
Entrez Id: 6611
Gene Symbol: SMS
SMS
CUI: C0796160
Disease:
MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE 		C 0.810 CausalMutation CLINVAR
dbSNP: rs397515553
rs397515553
Entrez Id: 6611
Gene Symbol: SMS
SMS
CUI: C0796160
Disease:
MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE 		G 0.810 CausalMutation CLINVAR
dbSNP: rs121434610
rs121434610
Entrez Id: 6611
Gene Symbol: SMS
SMS
CUI: C0796160
Disease:
MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE 		A 0.800 CausalMutation CLINVAR
dbSNP: rs397515549
rs397515549
Entrez Id: 6611
Gene Symbol: SMS
SMS
CUI: C0796160
Disease:
MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE 		A 0.800 CausalMutation CLINVAR
dbSNP: rs1569351529
rs1569351529
Entrez Id: 6611
Gene Symbol: SMS
SMS
CUI: C0795864
Disease:
Smith-Magenis syndrome 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs397515381
rs397515381
Entrez Id: 6611
Gene Symbol: SMS
SMS
CUI: C0796160
Disease:
MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE 		A 0.700 CausalMutation CLINVAR
dbSNP: rs397515551
rs397515551
Entrez Id: 6611
Gene Symbol: SMS
SMS
CUI: C0796160
Disease:
MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE 		G 0.700 CausalMutation CLINVAR
dbSNP: rs397515552
rs397515552
Entrez Id: 6611
Gene Symbol: SMS
SMS
CUI: C0796160
Disease:
MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE 		C 0.700 CausalMutation CLINVAR
dbSNP: rs267607076
rs267607076
Entrez Id: 6611
Gene Symbol: SMS
SMS
CUI: C0796160
Disease:
MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE 		0.810 GeneticVariation UNIPROT Targeted next generation sequencing as a diagnostic tool in epileptic disorders. 22612257 2012
dbSNP: rs267607076
rs267607076
Entrez Id: 6611
Gene Symbol: SMS
SMS
CUI: C0796160
Disease:
MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE 		0.810 GeneticVariation UNIPROT Snyder-Robinson syndrome: a novel nonsense mutation in spermine synthase and expansion of the phenotype. 23897707 2013
dbSNP: rs267607076
rs267607076
Entrez Id: 6611
Gene Symbol: SMS
SMS
CUI: C0796160
Disease:
MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE 		0.810 GeneticVariation UNIPROT A missense mutation, p.V132G, in the X-linked spermine synthase gene (SMS) causes Snyder-Robinson syndrome. 19206178 2009
dbSNP: rs267607076
rs267607076
Entrez Id: 6611
Gene Symbol: SMS
SMS
CUI: C0796160
Disease:
MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE 		0.810 GeneticVariation UNIPROT New SMS mutation leads to a striking reduction in spermine synthase protein function and a severe form of Snyder-Robinson X-linked recessive mental retardation syndrome. 18550699 2008
dbSNP: rs267607076
rs267607076
Entrez Id: 6611
Gene Symbol: SMS
SMS
CUI: C0796160
Disease:
MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE 		0.810 GeneticVariation UNIPROT A Y328C missense mutation in spermine synthase causes a mild form of Snyder-Robinson syndrome. 23696453 2013
dbSNP: rs267607076
rs267607076
Entrez Id: 6611
Gene Symbol: SMS
SMS
CUI: C0796160
Disease:
MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE 		0.810 GeneticVariation UNIPROT X-linked spermine synthase gene (SMS) defect: the first polyamine deficiency syndrome. 14508504 2003
dbSNP: rs397515550
rs397515550
Entrez Id: 6611
Gene Symbol: SMS
SMS
CUI: C0796160
Disease:
MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE 		0.810 GeneticVariation UNIPROT New SMS mutation leads to a striking reduction in spermine synthase protein function and a severe form of Snyder-Robinson X-linked recessive mental retardation syndrome. 18550699 2008
dbSNP: rs397515550
rs397515550
Entrez Id: 6611
Gene Symbol: SMS
SMS
CUI: C0796160
Disease:
MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE 		0.810 GeneticVariation UNIPROT A Y328C missense mutation in spermine synthase causes a mild form of Snyder-Robinson syndrome. 23696453 2013
dbSNP: rs397515550
rs397515550
Entrez Id: 6611
Gene Symbol: SMS
SMS
CUI: C0796160
Disease:
MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE 		0.810 GeneticVariation UNIPROT X-linked spermine synthase gene (SMS) defect: the first polyamine deficiency syndrome. 14508504 2003
dbSNP: rs397515550
rs397515550
Entrez Id: 6611
Gene Symbol: SMS
SMS
CUI: C0796160
Disease:
MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE 		0.810 GeneticVariation UNIPROT Targeted next generation sequencing as a diagnostic tool in epileptic disorders. 22612257 2012