SGMS2, sphingomyelin synthase 2, 166929

N. diseases: 45; N. variants: 1
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1852022
Disease: Doughnut Lesions of Skull, Familial
Doughnut Lesions of Skull, Familial 		0.400 GeneticVariation disease UNIPROT Osteoporosis and skeletal dysplasia caused by pathogenic variants in SGMS2. 30779713 2019
CUI: C1852022
Disease: Doughnut Lesions of Skull, Familial
Doughnut Lesions of Skull, Familial 		0.400 CausalMutation disease CLINVAR
CUI: C0029456
Disease: Osteoporosis
Osteoporosis 		0.110 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
CUI: C0029456
Disease: Osteoporosis
Osteoporosis 		0.110 Biomarker disease HPO
CUI: C0011334
Disease: Dental caries
Dental caries 		0.100 Biomarker disease HPO
CUI: C0029453
Disease: Osteopenia
Osteopenia 		0.100 Biomarker disease HPO
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		0.100 Biomarker disease HPO
CUI: C0151849
Disease: Alkaline phosphatase raised
Alkaline phosphatase raised 		0.100 Biomarker phenotype HPO
CUI: C1314665
Disease: Serum alkaline phosphatase raised
Serum alkaline phosphatase raised 		0.100 Biomarker phenotype HPO
CUI: C1858452
Disease: Thickened calvaria
Thickened calvaria 		0.100 Biomarker phenotype HPO
CUI: C3805574
Disease: Increased fracture rate
Increased fracture rate 		0.100 Biomarker phenotype HPO
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis 		0.070 Biomarker disease BEFREE The preliminary molecular mechanism-of-action studies revealed its function in lipid homeostasis and inflammation process, which indicated that the selective inhibition of SMS2 would be a promising treatment for atherosclerosis. 30580239 2019
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis 		0.070 Biomarker disease BEFREE The preliminary molecular mechanism-of-action studies revealed its function in lipid homeostasis and inflammation process, which indicated that the selective inhibition of SMS2 would be a promising treatment for atherosclerosis. 30580239 2019
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis 		0.070 Biomarker disease BEFREE Sphingomyelin synthase 2 (SMS2) is a promising therapeutic target for several chronic inflammation-associated diseases, including atherosclerosis, fatty liver, and insulin resistance. 30074791 2018
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis 		0.070 Biomarker disease BEFREE Sphingomyelin synthase 2 (SMS2) is a promising therapeutic target for several chronic inflammation-associated diseases, including atherosclerosis, fatty liver, and insulin resistance. 30074791 2018
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis 		0.070 Biomarker disease BEFREE It was reported that SMS2 KO mice displayed lower inflammatory responses and anti-atherosclerotic effects, suggesting that inhibition of SMS2 would be a potential therapeutic approach for controlling inflammatory responses and atherosclerosis. 28505533 2017
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis 		0.070 Biomarker disease BEFREE SMS2 could serve as a promising therapeutic target for atherosclerosis. 28619536 2017
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis 		0.070 Biomarker disease BEFREE SMS2 could serve as a promising therapeutic target for atherosclerosis. 28619536 2017
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis 		0.070 Biomarker disease BEFREE It was reported that SMS2 KO mice displayed lower inflammatory responses and anti-atherosclerotic effects, suggesting that inhibition of SMS2 would be a potential therapeutic approach for controlling inflammatory responses and atherosclerosis. 28505533 2017
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis 		0.070 AlteredExpression disease BEFREE This study sought to assess the effect of sphingomyelin synthase 2 (SMS2) over-expression on plaque component and endothelial dysfunction in atherosclerosis. 22538014 2012
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis 		0.070 AlteredExpression disease BEFREE This study sought to assess the effect of sphingomyelin synthase 2 (SMS2) over-expression on plaque component and endothelial dysfunction in atherosclerosis. 22538014 2012
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis 		0.070 Biomarker disease BEFREE SMS2 could be a potential target for treating atherosclerosis. 21235823 2011
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis 		0.070 Biomarker disease BEFREE SMS2 could be a potential target for treating atherosclerosis. 21235823 2011
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis 		0.070 AlteredExpression disease BEFREE We therefore believe that regulation of liver SMS2 activity could become a promising treatment for atherosclerosis. 19286635 2009
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis 		0.070 AlteredExpression disease BEFREE We therefore believe that regulation of liver SMS2 activity could become a promising treatment for atherosclerosis. 19286635 2009