SMS, spermine synthase, 6611

N. diseases: 263; N. variants: 9
Disease: Smith-Magenis syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0795864
Disease: Smith-Magenis syndrome
Smith-Magenis syndrome 		0.130 Biomarker disease BEFREE Families were randomly allocated to one of three groups, where the parent received the intervention by the Web (G1), Web + e-mail (G2) or Web + SMS (G3). 29452589 2018
CUI: C0795864
Disease: Smith-Magenis syndrome
Smith-Magenis syndrome 		0.130 GeneticVariation disease BEFREE A total of 125 children and adolescents (2-17.5 years of age; 96.8% ASD, 3.2% Smith-Magenis syndrome [SMS]) whose sleep failed to improve on behavioral intervention alone were randomized (1:1 ratio), double-blind, to receive PedPRM (2 mg escalated to 5 mg) or placebo for 13 weeks. 29096777 2017
CUI: C0795864
Disease: Smith-Magenis syndrome
Smith-Magenis syndrome 		0.130 Biomarker disease BEFREE We found one chromosome breakpoint within the centromere and the second breakpoint within the distal Smith-Magenis syndrome low-copy repeat (distal SMS-REP). 16152635 2005
CUI: C0795864
Disease: Smith-Magenis syndrome
Smith-Magenis syndrome 		0.130 GeneticVariation disease CLINVAR