SGMS2, sphingomyelin synthase 2, 166929

N. diseases: 45; N. variants: 1
Disease: Skeletal dysplasia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia 		0.010 GeneticVariation disease BEFREE SGMS2 pathogenic variants underlie a spectrum of skeletal conditions, ranging from isolated osteoporosis to complex skeletal dysplasia, suggesting a critical role for plasma membrane-bound sphingomyelin metabolism in skeletal homeostasis. 30779713 2019