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: C0034063
Disease: Pulmonary Edema
Pulmonary Edema
0.200 Biomarker phenotype RGD This work provides further insight into the relationship between mob-1 and TNF-alpha in the development of lung injury assessed by pulmonary edema and leukosequestration. 12353928 2002
CUI: C0005890
Disease: Body Height
Body Height
0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C1305855
Disease: Body mass index
Body mass index
0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement
0.100 GeneticVariation phenotype GWASCAT Genome and epigenome wide studies of neurological protein biomarkers in the Lothian Birth Cohort 1936. 31320639 2019
CUI: C0596887
Disease: mathematical ability
mathematical ability
0.100 GeneticVariation phenotype GWASCAT Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals. 30038396 2018
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.020 Biomarker group BEFREE Evaluating SMS1 expression level in tumor samples might serve as a biomarker to predict clinical outcome in advanced melanoma patients. 31114500 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.020 Biomarker group BEFREE By studying these variants in human cancer cells and Drosophila, we uncovered that MOB1/Warts binding is essential for tumor suppression, tissue growth control, and development, while stable MOB1/Hippo binding is dispensable and MOB1/Trc binding alone is insufficient. 28947795 2017
CUI: C3266262
Disease: Multiple Chronic Conditions
Multiple Chronic Conditions
0.020 GeneticVariation disease BEFREE These circRNAs consist mainly of portions of the multi-exon 5' untranslated region (5'UTR) of the SGMS1 gene and include one to five exons. 27449796 2017
CUI: C3266262
Disease: Multiple Chronic Conditions
Multiple Chronic Conditions
0.020 GeneticVariation disease BEFREE Here the authors employ a multi-disciplinary approach to characterize the interactions of the three Hippo kinases with the signaling adaptor MOB1 and show how they differently affect development, tissue growth and tumor suppression. 28947795 2017
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