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: 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: C0028754
Disease: Obesity
Obesity
0.010 Biomarker disease BEFREE Several candidate genes, including tubby (tub), multigenic obesity 1 (Mob1), adult obesity and diabetes (Ad), and insulin-like growth factor-2 (Igf2), map to murine regions homologous to the QTL region identified on rat Chr.1. 9169130 1997
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: C0006826
Disease: Malignant Neoplasms
Malignant 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: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma
0.010 AlteredExpression disease BEFREE Human MOB1 expression in non-small-cell lung cancer. 17311693 2007
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: 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: 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: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
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: C1306460
Disease: Primary malignant neoplasm of lung
Primary 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: 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: 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: 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
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: 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
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: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic
0.010 AlteredExpression disease BEFREE Bcr-Abl (break-point cluster region-abelson), the oncogenic trigger of chronic myelogenous leukemia (CML), has previously been shown to up-regulate the expression and activity of sphingomyelin synthase 1 (SMS1), which contributes to the proliferation of CML cells; however, the mechanism by which this increased expression of SMS1 is mediated remains unknown. 29533737 2018
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma
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
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
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: 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