KHK, ketohexokinase, 3795

N. diseases: 28; N. variants: 3
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0268160
Disease: Deficiency of fructokinase
Deficiency of fructokinase 		0.740 Biomarker disease BEFREE A rare benign genetic deficiency in KHK, called essential fructosuria (EF), leads to altered fructose metabolism. 29664676 2018
CUI: C0268160
Disease: Deficiency of fructokinase
Deficiency of fructokinase 		0.740 Biomarker disease BEFREE Together, these results suggest that Khk KO mice may serve as a good model for essential fructosuria in humans and that inhibition of KHK offers the potential to protect from diet-induced hepatic steatosis and insulin resistance. 29870677 2018
CUI: C0268160
Disease: Deficiency of fructokinase
Deficiency of fructokinase 		0.740 GermlineCausalMutation disease ORPHANET Structures of alternatively spliced isoforms of human ketohexokinase. 19237742 2009
CUI: C0268160
Disease: Deficiency of fructokinase
Deficiency of fructokinase 		0.740 Biomarker disease CTD_human Doctor, my son is so tired... about a case of hereditary fructose intolerance. 18035330 2007
CUI: C0268160
Disease: Deficiency of fructokinase
Deficiency of fructokinase 		0.740 Biomarker disease BEFREE These findings raise the possibility that ketohexokinase-A serves an unknown physiologic function that remains intact in essential fructosuria. 12941785 2003
CUI: C0268160
Disease: Deficiency of fructokinase
Deficiency of fructokinase 		0.740 GeneticVariation disease UNIPROT These findings raise the possibility that ketohexokinase-A serves an unknown physiologic function that remains intact in essential fructosuria. 12941785 2003
CUI: C0268160
Disease: Deficiency of fructokinase
Deficiency of fructokinase 		0.740 GeneticVariation disease UNIPROT Direct evidence that mutation of the KHK structural gene is the cause of essential fructosuria was also obtained. 7833921 1994
CUI: C0268160
Disease: Deficiency of fructokinase
Deficiency of fructokinase 		0.740 Biomarker disease CTD_human Direct evidence that mutation of the KHK structural gene is the cause of essential fructosuria was also obtained. 7833921 1994
CUI: C0268160
Disease: Deficiency of fructokinase
Deficiency of fructokinase 		0.740 GermlineCausalMutation disease ORPHANET Direct evidence that mutation of the KHK structural gene is the cause of essential fructosuria was also obtained. 7833921 1994
CUI: C0268160
Disease: Deficiency of fructokinase
Deficiency of fructokinase 		0.740 GeneticVariation disease BEFREE Direct evidence that mutation of the KHK structural gene is the cause of essential fructosuria was also obtained. 7833921 1994
CUI: C0268160
Disease: Deficiency of fructokinase
Deficiency of fructokinase 		0.740 GeneticVariation disease CLINVAR
CUI: C0011853
Disease: Diabetes Mellitus, Experimental
Diabetes Mellitus, Experimental 		0.200 Biomarker disease RGD Response of hepatic fructokinase to long-term sucrose diets and diabetes in spiny mice, albino mice and rats. 6088170 1984
CUI: C0015695
Disease: Fatty Liver
Fatty Liver 		0.030 Biomarker disease BEFREE Here we show that high intake of salt activates the aldose reductase-fructokinase pathway in the liver and hypothalamus, leading to endogenous fructose production with the development of leptin resistance and hyperphagia that cause obesity, insulin resistance, and fatty liver. 29507217 2018
CUI: C2711227
Disease: Steatohepatitis
Steatohepatitis 		0.030 Biomarker disease BEFREE Here we show that high intake of salt activates the aldose reductase-fructokinase pathway in the liver and hypothalamus, leading to endogenous fructose production with the development of leptin resistance and hyperphagia that cause obesity, insulin resistance, and fatty liver. 29507217 2018
CUI: C0015695
Disease: Fatty Liver
Fatty Liver 		0.030 Biomarker disease BEFREE Knockdown of ketohexokinase in liver improved hepatic steatosis and glucose tolerance in fructose-supplemented mice. 28972537 2017
CUI: C2711227
Disease: Steatohepatitis
Steatohepatitis 		0.030 Biomarker disease BEFREE Ketohexokinase, the first enzyme of fructose metabolism, was increased in fructose-fed mice and in obese humans with steatohepatitis. 28972537 2017
CUI: C0015695
Disease: Fatty Liver
Fatty Liver 		0.030 Biomarker disease BEFREE Uric acid stimulates fructokinase and accelerates fructose metabolism in the development of fatty liver. 23112875 2012
CUI: C2711227
Disease: Steatohepatitis
Steatohepatitis 		0.030 Biomarker disease BEFREE Uric acid stimulates fructokinase and accelerates fructose metabolism in the development of fatty liver. 23112875 2012
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.020 AlteredExpression disease BEFREE These findings underscore the role of the protein kinase activity of KHK-A in antioxidative stress and HCC development. 31032410 2019
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.020 AlteredExpression group BEFREE From the results, we found that KHK was expressed at significantly higher level in glioma tissues than in non-tumor brain, and KHK expression was significantly correlated with tumor malignancy and poor survival of glioma patients (p < 0.01). 30031605 2018
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.020 AlteredExpression group BEFREE From the results, we found that KHK was expressed at significantly higher level in glioma tissues than in non-tumor brain, and KHK expression was significantly correlated with tumor malignancy and poor survival of glioma patients (p < 0.01). 30031605 2018
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.020 AlteredExpression group BEFREE From the results, we found that KHK was expressed at significantly higher level in glioma tissues than in non-tumor brain, and KHK expression was significantly correlated with tumor malignancy and poor survival of glioma patients (p < 0.01). 30031605 2018
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.020 AlteredExpression disease BEFREE These findings reveal a pivotal mechanism underlying the distinct fructose metabolism between HCC cells and normal hepatocytes and highlight the instrumental role of KHK-A protein kinase activity in promoting de novo nucleic acid synthesis and HCC development. 27088854 2016
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.020 AlteredExpression group BEFREE The level of ketohexokinase activity in histological grade 3 RCC was 1.8-fold lower than that in grade 1 cancer. 16372272 2006
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.020 AlteredExpression group BEFREE Ketohexokinase activity in tumor stage pT3 RCC was 1.5-fold lower than in pT1 RCC. 16372272 2006