SGMS1, sphingomyelin synthase 1, 259230

N. diseases: 39; N. variants: 5
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.010 Biomarker disease BEFREE Knockdown of SMS1 attenuates AD-like pathology through promoting lysosomal degradation of BACE1. 30243987 2019
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis 		0.010 Biomarker disease BEFREE Sphingomyelin synthase 1 (SMS1) has been reported to participate in hepatitis and atherosclerosis. 31262710 2019
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis 		0.010 Biomarker disease BEFREE Sphingomyelin synthase 1 (SMS1) has been reported to participate in hepatitis and atherosclerosis. 31262710 2019
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases 		0.010 Biomarker group BEFREE These data suggest that SMS1 is involved in lupus-like autoimmunity via regulating BCR signal transduction and B cell activation.(Word count for the abstract: 230). 31262710 2019
CUI: C0014060
Disease: Encephalitis, St. Louis
Encephalitis, St. Louis 		0.010 Biomarker disease BEFREE SMS1 knockout lupus-like animal model and SLE patient samples were utilized. 31262710 2019
CUI: C0017638
Disease: Glioma
Glioma 		0.010 Biomarker disease BEFREE <i>Conclusions</i>: SMS1 and SMS2 showed opposite associations with glioma patient survival, glioma cell growth and response to 2OHOA treatment. 30646599 2019
CUI: C0019158
Disease: Hepatitis
Hepatitis 		0.010 Biomarker group BEFREE Sphingomyelin synthase 1 (SMS1) has been reported to participate in hepatitis and atherosclerosis. 31262710 2019
CUI: C0019159
Disease: Hepatitis A
Hepatitis A 		0.010 Biomarker disease BEFREE Sphingomyelin synthase 1 (SMS1) has been reported to participate in hepatitis and atherosclerosis. 31262710 2019
CUI: C0024131
Disease: Lupus Vulgaris
Lupus Vulgaris 		0.010 Biomarker disease BEFREE SMS1 deficiency also displayed lower autoantibody titers and 24 h urine protein excretion in bm12-induced lupus, which were associated with reduced B-cell activation. 31262710 2019
CUI: C0024138
Disease: Lupus Erythematosus, Discoid
Lupus Erythematosus, Discoid 		0.010 Biomarker disease BEFREE SMS1 deficiency also displayed lower autoantibody titers and 24 h urine protein excretion in bm12-induced lupus, which were associated with reduced B-cell activation. 31262710 2019
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.010 Biomarker disease BEFREE SMS1 knockout lupus-like animal model and SLE patient samples were utilized. 31262710 2019
CUI: C0025202
Disease: melanoma
melanoma 		0.010 AlteredExpression disease BEFREE Collectively, our study indicates that SMS1 downregulation in melanoma enhances GlcCer synthesis, triggering an imbalance in the SM/GlcCer homeostasis, which likely contributes to melanoma progression. 31114500 2019
CUI: C0151650
Disease: Renal fibrosis
Renal fibrosis 		0.010 AlteredExpression disease BEFREE Moreover, Kindlin-2 levels are negatively correlated with MOB1 and phosphorylated (p) YAP in samples from patients with renal fibrosis. 31825843 2019
CUI: C0409974
Disease: Lupus Erythematosus
Lupus Erythematosus 		0.010 Biomarker disease BEFREE SMS1 deficiency also displayed lower autoantibody titers and 24 h urine protein excretion in bm12-induced lupus, which were associated with reduced B-cell activation. 31262710 2019
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.010 Biomarker phenotype BEFREE Overall, the present results suggested that SMS1 could inhibit EMT and the migration and invasion of MDA‑MB‑231 cells via TGF‑β/Smad signaling pathway. 30535436 2019
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme 		0.010 Biomarker disease BEFREE SMS1 and SMS2 also had opposing effect on GBM cell survival and 2OHOA's IC<sub>50</sub> correlated with basal SMS1 levels and treatment induced changes in SMS1/SMS2 ratio. 30646599 2019