Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2931278
Disease: Phosphoenolpyruvate carboxykinase 2 deficiency
Phosphoenolpyruvate carboxykinase 2 deficiency 		0.300 Biomarker disease CTD_human
CUI: C2711227
Disease: Steatohepatitis
Steatohepatitis 		0.120 Biomarker disease HPO
CUI: C0015695
Disease: Fatty Liver
Fatty Liver 		0.110 Biomarker disease HPO
CUI: C0020615
Disease: Hypoglycemia
Hypoglycemia 		0.100 Biomarker disease HPO
CUI: C0085605
Disease: Liver Failure
Liver Failure 		0.100 Biomarker disease HPO
CUI: C1849821
Disease: Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial 		0.100 CausalMutation disease CLINVAR
CUI: C3279336
Disease: Impaired gluconeogenesis
Impaired gluconeogenesis 		0.100 Biomarker phenotype HPO
CUI: C4021796
Disease: Renal steatosis
Renal steatosis 		0.100 Biomarker disease HPO
CUI: C0268194
Disease: Phosphoenolpyruvate carboxykinase deficiency
Phosphoenolpyruvate carboxykinase deficiency 		0.300 GermlineCausalMutation disease ORPHANET Mitochondrial phosphoenolpyruvate carboxykinase deficiency. 2044592 1991
CUI: C0011847
Disease: Diabetes
Diabetes 		0.050 AlteredExpression disease BEFREE These results provide evidence for the interaction of insulin and glucocorticoid regulatory elements in the control of PEPCK gene transcription and suggest an important role of glucocorticoids as a gluconeogenic activator during diabetes. 7685354 1993
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		0.050 AlteredExpression group BEFREE These results provide evidence for the interaction of insulin and glucocorticoid regulatory elements in the control of PEPCK gene transcription and suggest an important role of glucocorticoids as a gluconeogenic activator during diabetes. 7685354 1993
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.080 AlteredExpression disease BEFREE Since these are the major regulatory hormones controlling glucose homeostasis, and because increased hepatic glucose production is one of the characteristics of non-insulin dependent diabetes mellitus (NIDDM), investigators have speculated that the regulation of PEPCK gene expression may be defective in patients with NIDDM. 8547315 1995
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.040 Biomarker disease BEFREE Surprisingly, we found that E1A consistently stimulated basal transcription from the PEPCK promoter in transfection assays in adenovirus (Ad)-infected HepG2 hepatoma cells or E1A-expressing, stably transfected 3T3 fibroblasts and nuclear run-on assays in Ad-infected H4IIE hepatoma cells. 8626493 1996
CUI: C0023903
Disease: Liver neoplasms
Liver neoplasms 		0.030 Biomarker group BEFREE Surprisingly, we found that E1A consistently stimulated basal transcription from the PEPCK promoter in transfection assays in adenovirus (Ad)-infected HepG2 hepatoma cells or E1A-expressing, stably transfected 3T3 fibroblasts and nuclear run-on assays in Ad-infected H4IIE hepatoma cells. 8626493 1996
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.080 GeneticVariation disease BEFREE This result suggests that mutations in cis-acting PEPCK gene regulatory elements do not constitute a common cause of noninsulin-dependent diabetes mellitus. 8636258 1996
CUI: C0011847
Disease: Diabetes
Diabetes 		0.050 AlteredExpression disease BEFREE The expression of the PEPCK gene in rat and human small intestine and the effect of streptozotocin-induced diabetes and fasting have been studied using reverse transcriptase-polymerase chain reaction, Northern blot analysis, and determination of enzyme activity. 10909974 2000
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		0.050 AlteredExpression group BEFREE The expression of the PEPCK gene in rat and human small intestine and the effect of streptozotocin-induced diabetes and fasting have been studied using reverse transcriptase-polymerase chain reaction, Northern blot analysis, and determination of enzyme activity. 10909974 2000
CUI: C0011847
Disease: Diabetes
Diabetes 		0.050 Biomarker disease BEFREE To employ hepatocytes as surrogate beta-cells for gene therapy of diabetes, a regulatory system was devised in this study by placing the human insulin cDNA under the control of the phosphoenolpyruvate carboxykinase (PEPCK) promoter, followed by the cytomegalovirus immediate early promoter-driven enhanced-green-fluorescent-protein open reading frame. 11277867 2001
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		0.050 Biomarker group BEFREE To employ hepatocytes as surrogate beta-cells for gene therapy of diabetes, a regulatory system was devised in this study by placing the human insulin cDNA under the control of the phosphoenolpyruvate carboxykinase (PEPCK) promoter, followed by the cytomegalovirus immediate early promoter-driven enhanced-green-fluorescent-protein open reading frame. 11277867 2001
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.080 AlteredExpression disease BEFREE For example, the expression of two hepatic genes, glucose-6-phosphatase and PEPCK, is normally inhibited by insulin, but in type 2 diabetes, their expression is insensitive to insulin. 11334436 2001
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.080 GeneticVariation disease BEFREE Accordingly, the single-base variant at position - 232 of the PEPCK gene promoter is most probably not a major contributor to the pathogenesis of type 2 diabetes. 12916001 2003
CUI: C0011847
Disease: Diabetes
Diabetes 		0.050 GeneticVariation disease BEFREE To test the hypothesis that mutations of the PEPCK gene promoter contribute to the increased hepatic glucose production that leads to diabetes, we screened for polymorphisms of the PEPCK promoter region in 252 Japanese type 2 diabetic patients and 188 non-diabetic control subjects. 12916001 2003
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		0.050 GeneticVariation group BEFREE To test the hypothesis that mutations of the PEPCK gene promoter contribute to the increased hepatic glucose production that leads to diabetes, we screened for polymorphisms of the PEPCK promoter region in 252 Japanese type 2 diabetic patients and 188 non-diabetic control subjects. 12916001 2003
CUI: C2711227
Disease: Steatohepatitis
Steatohepatitis 		0.120 GeneticVariation disease BEFREE The new transgenic strain of SHR overexpressing a dominant-positive form of human SREBP-1a under control of the phosphoenolpyruvate carboxykinase (PEPCK) promoter exhibited marked hepatic steatosis with major biochemical features of the metabolic syndrome, including hyperglycemia, hyperinsulinemia, and hypertriglyceridemia. 15809359 2005
CUI: C0015695
Disease: Fatty Liver
Fatty Liver 		0.110 GeneticVariation disease BEFREE The new transgenic strain of SHR overexpressing a dominant-positive form of human SREBP-1a under control of the phosphoenolpyruvate carboxykinase (PEPCK) promoter exhibited marked hepatic steatosis with major biochemical features of the metabolic syndrome, including hyperglycemia, hyperinsulinemia, and hypertriglyceridemia. 15809359 2005