Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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: 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: 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
CUI: C0268194
Disease: Phosphoenolpyruvate carboxykinase deficiency
Phosphoenolpyruvate carboxykinase deficiency 		0.300 GermlineCausalMutation disease ORPHANET Mitochondrial phosphoenolpyruvate carboxykinase deficiency. 2044592 1991
CUI: C2931278
Disease: Phosphoenolpyruvate carboxykinase 2 deficiency
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 AlteredExpression disease BEFREE RESULTS; Expression of PEPCK was higher in steatohepatitis compared with steatosis alone and normal liver, and it was correlated with the homeostasis model assessment of insulin resistance (HOMA-IR) index. 18316359 2008
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: C2711227
Disease: Steatohepatitis
Steatohepatitis 		0.120 Biomarker disease HPO
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: C0015695
Disease: Fatty Liver
Fatty Liver 		0.110 Biomarker disease HPO
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
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: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.080 Biomarker disease BEFREE In a conclusion, CA can regulate glucose and lipid metabolic adaptation in T2D like HepG2, zebrafish and rat models partly through reducing inflammation and oxidative stress and suppressing PEPCK. 30867526 2019
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
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: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
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
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
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
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: 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