SMS, spermine synthase, 6611

N. diseases: 263; N. variants: 9
Disease: Epilepsy ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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