SMS, spermine synthase, 6611

N. diseases: 263; N. variants: 9
Disease: MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397515549
rs397515549
Entrez Id: 6611
Gene Symbol: SMS
SMS
CUI: C0796160
Disease:
MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE 		0.800 GeneticVariation UNIPROT A Y328C missense mutation in spermine synthase causes a mild form of Snyder-Robinson syndrome. 23696453 2013
dbSNP: rs397515549
rs397515549
Entrez Id: 6611
Gene Symbol: SMS
SMS
CUI: C0796160
Disease:
MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE 		0.800 GeneticVariation UNIPROT Snyder-Robinson syndrome: a novel nonsense mutation in spermine synthase and expansion of the phenotype. 23897707 2013
dbSNP: rs397515549
rs397515549
Entrez Id: 6611
Gene Symbol: SMS
SMS
CUI: C0796160
Disease:
MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE 		0.800 GeneticVariation UNIPROT Targeted next generation sequencing as a diagnostic tool in epileptic disorders. 22612257 2012
dbSNP: rs397515549
rs397515549
Entrez Id: 6611
Gene Symbol: SMS
SMS
CUI: C0796160
Disease:
MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE 		0.800 GeneticVariation UNIPROT A missense mutation, p.V132G, in the X-linked spermine synthase gene (SMS) causes Snyder-Robinson syndrome. 19206178 2009
dbSNP: rs397515549
rs397515549
Entrez Id: 6611
Gene Symbol: SMS
SMS
CUI: C0796160
Disease:
MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE 		0.800 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: rs397515549
rs397515549
Entrez Id: 6611
Gene Symbol: SMS
SMS
CUI: C0796160
Disease:
MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE 		0.800 GeneticVariation UNIPROT X-linked spermine synthase gene (SMS) defect: the first polyamine deficiency syndrome. 14508504 2003
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