Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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
CUI: C0021704
Disease: Intelligence
Intelligence
0.100 GeneticVariation phenotype GWASCAT Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function. 29844566 2018
Diabetes Mellitus, Non-Insulin-Dependent
0.080 GeneticVariation disease BEFREE The present data suggest that, in a German Caucasian population, the -232C/G polymorphism of the PEPCK gene is not associated with Type 2 diabetes. 16620271 2006
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
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
Diabetes Mellitus, Non-Insulin-Dependent
0.080 GeneticVariation disease BEFREE In this study, we generated transgenic dogs expressing the phosphoenolpyruvate carboxykinase (PEPCK) gene, which is closely involved in the pathogenesis of type 2 diabetes mellitus. 22580743 2012
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: C0020456
Disease: Hyperglycemia
Hyperglycemia
0.020 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: C0028754
Disease: Obesity
Obesity
0.010 GeneticVariation disease BEFREE Eight of the methylation sites were in genes previously associated with obesity risk (eg, PCK2, CxCl10, BCAT1, HID1, PRDM16, MADD, PXDN, GALE), with several of the findings from the discovery data set replicated in the second cohort. 30177354 2018
CUI: C0003129
Disease: Anoxemia
Anoxemia
0.300 Biomarker phenotype CTD_human Effects of cyclic hypoxia on gene expression and reproduction in a grass shrimp, Palaemonetes pugio. 18258771 2008
CUI: C0003130
Disease: Anoxia
Anoxia
0.300 Biomarker phenotype CTD_human Effects of cyclic hypoxia on gene expression and reproduction in a grass shrimp, Palaemonetes pugio. 18258771 2008
CUI: C0023893
Disease: Liver Cirrhosis, Experimental
Liver Cirrhosis, Experimental
0.300 Biomarker disease CTD_human Systems level analysis and identification of pathways and networks associated with liver fibrosis. 25380136 2014
CUI: C0242184
Disease: Hypoxia
Hypoxia
0.300 Biomarker phenotype CTD_human Effects of cyclic hypoxia on gene expression and reproduction in a grass shrimp, Palaemonetes pugio. 18258771 2008
CUI: C0700292
Disease: Hypoxemia
Hypoxemia
0.300 Biomarker phenotype CTD_human Effects of cyclic hypoxia on gene expression and reproduction in a grass shrimp, Palaemonetes pugio. 18258771 2008
Phosphoenolpyruvate carboxykinase 2 deficiency
0.300 Biomarker disease CTD_human
CUI: C0376618
Disease: Endotoxemia
Endotoxemia
0.200 Biomarker phenotype RGD In rat endotoxemia, hepatic PCK2 mRNA and PEPCK-M enzyme activity decreased by 53% and 38%, compared to sham controls. 19268478 2009
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: C3279336
Disease: Impaired gluconeogenesis
Impaired gluconeogenesis
0.100 Biomarker phenotype HPO
CUI: C4021796
Disease: Renal steatosis
Renal steatosis
0.100 Biomarker disease HPO
Diabetes Mellitus, Non-Insulin-Dependent
0.080 Biomarker disease BEFREE The aim of this study was to identify genetic polymorphisms in potential candidate genes for type 2 diabetes by sequencing all exons in the PCK genes (PCK1 and PCK2), and examining the association with type 2 diabetes and diabetic phenotypes in a Korean population (775 type 2 diabetic patients and 316 normal control subjects). 16132948 2005