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: 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: 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: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
0.010 AlteredExpression disease BEFREE Human MOB1/glyseraldehyde-3-phosphate dehydrogenase (GAPDH) mRNA expression was significantly decreased in the tumor of lung cancer tissue (3.347 +/- 4.306) compared with normal lung tissue (4.833 +/- 4.306; P = 0.0437), although 22 of 60 lung cancer tissue samples had > 1 tumor-normal ratio of MOB1/GAPDH mRNA expression. 17311693 2007
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.010 AlteredExpression disease BEFREE We further demonstrate that IP-10, the human homolog of Mob-1, is overexpressed in the majority of colorectal cancers. 9129152 1997
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder)
0.010 Biomarker phenotype BEFREE We examined pharyngeal pumping and observed that clozapine-induced inhibition of pharyngeal pumping requires sms-1, a finding that may explain the role of the gene in mediating clozapine-induced developmental delay/lethality. 27711049 2017
Diabetes Mellitus, Non-Insulin-Dependent
0.010 Biomarker disease BEFREE In addition, the expression of specific enzymes of sphingolipid metabolism, dihydroceramide desaturase 1 and sphingomyelin synthase 1, was increased in the PBMCs of individuals with type 2 diabetes. 28988346 2018
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: 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
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: C0557874
Disease: Global developmental delay
Global developmental delay
0.010 Biomarker disease BEFREE We examined pharyngeal pumping and observed that clozapine-induced inhibition of pharyngeal pumping requires sms-1, a finding that may explain the role of the gene in mediating clozapine-induced developmental delay/lethality. 27711049 2017
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: C0345905
Disease: Intrahepatic Cholangiocarcinoma
Intrahepatic Cholangiocarcinoma
0.010 Biomarker disease BEFREE MOB1, a core component of the Hippo signaling pathway, suppresses cell proliferation, and MOB1 liver conditional knockout mice develop intrahepatic cholangiocarcinoma (ICC). 28448997 2017
CUI: C0024121
Disease: Lung Neoplasms
Lung Neoplasms
0.010 AlteredExpression group BEFREE Human MOB1/glyseraldehyde-3-phosphate dehydrogenase (GAPDH) mRNA expression was significantly decreased in the tumor of lung cancer tissue (3.347 +/- 4.306) compared with normal lung tissue (4.833 +/- 4.306; P = 0.0437), although 22 of 60 lung cancer tissue samples had > 1 tumor-normal ratio of MOB1/GAPDH mRNA expression. 17311693 2007
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: 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: 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: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung
0.010 AlteredExpression disease BEFREE Human MOB1/glyseraldehyde-3-phosphate dehydrogenase (GAPDH) mRNA expression was significantly decreased in the tumor of lung cancer tissue (3.347 +/- 4.306) compared with normal lung tissue (4.833 +/- 4.306; P = 0.0437), although 22 of 60 lung cancer tissue samples had > 1 tumor-normal ratio of MOB1/GAPDH mRNA expression. 17311693 2007
CUI: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas
0.010 Biomarker disease BEFREE However, it remains unclear whether other MST-MOB complexes are also involved in regulating Hippo-YAP signaling and have potential roles in PC. 30072378 2018