SMS, spermine synthase, 6611

N. diseases: 263; N. variants: 9
Disease: Osteoporosis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0029456
Disease: Osteoporosis
Osteoporosis 		0.120 GeneticVariation disease BEFREE Patients with Snyder-Robinson Syndrome (SRS) exhibit deficient Spermidine Synthase (SMS) gene expression, which causes neurodevelopmental defects and osteoporosis, often leading to extremely fragile bones. 31659216 2019
CUI: C0029456
Disease: Osteoporosis
Osteoporosis 		0.120 GeneticVariation disease BEFREE It was shown that gene defects resulting in amino acid changes of the wild type SMS cause Snyder-Robinson syndrome, which is a mild-to-moderate mental disability associated with osteoporosis, facial asymmetry, thin habitus, hypotonia, and a nonspecific movement disorder. 23468611 2013
CUI: C0029456
Disease: Osteoporosis
Osteoporosis 		0.120 Biomarker disease HPO