SMS, spermine synthase, 6611

N. diseases: 263; N. variants: 9
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0162429
Disease: Malnutrition
Malnutrition
0.020 Biomarker disease BEFREE Spermine synthase deficiency is thus far the only known polyamine deficiency syndrome in humans. 21318891 2011
CUI: C0162429
Disease: Malnutrition
Malnutrition
0.020 Biomarker disease BEFREE We report the first polyamine deficiency syndrome caused by a defect in spermine synthase (SMS). 14508504 2003