UGP2, UDP-glucose pyrophosphorylase 2, 7360

N. diseases: 26; N. variants: 0
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0036572
Disease: Seizures
Seizures
0.300 Biomarker phenotype GENOMICS_ENGLAND Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases. 31820119 2020
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties
0.300 Biomarker phenotype GENOMICS_ENGLAND Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases. 31820119 2020
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
0.300 Biomarker disease GENOMICS_ENGLAND Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases. 31820119 2020
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.300 Biomarker group GENOMICS_ENGLAND Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases. 31820119 2020
CUI: C4025846
Disease: Abnormality of vision
Abnormality of vision
0.300 Biomarker disease GENOMICS_ENGLAND Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases. 31820119 2020
CUI: C4025871
Disease: Abnormality of the face
Abnormality of the face
0.300 Biomarker phenotype GENOMICS_ENGLAND Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases. 31820119 2020
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.040 Biomarker disease BEFREE The isoform switch of metabolism-related gene UGP2 (UDP-glucose pyrophosphorylase 2) might play an essential role in HCC. 30014619 2019
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.040 Biomarker disease BEFREE Correction: LncRNA-SVUGP2 suppresses progression of hepatocellular carcinoma. 30131857 2018
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.040 Biomarker disease BEFREE LncRNA-SVUGP2 suppresses progression of hepatocellular carcinoma. 29228655 2017
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.040 Biomarker disease BEFREE Subsequent TMA analysis revealed a three marker panel of HSP70, ASS1, and UGP2 to be statistically significant in stratifying the two groups of HCC patients. 24946162 2014
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
0.030 Biomarker phenotype BEFREE A loss-of-function study showed that knockdown of UGP2 decreases U251 cell growth, migration, and invasion in vivo and vitro. 30816613 2019
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
0.030 AlteredExpression phenotype BEFREE Overexpression of lncRNA-SVUGP2 depressed proliferation, induced apoptosis, and suppressed migration and invasion of A549 and H1975 cells. 31401873 2019
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
0.030 Biomarker phenotype BEFREE Moreover, lncRNA-SVUGP2 suppresses the invasion ability of liver cancer cell lines and downregulates the mRNA and protein levels of MMP2 and 9. 29228655 2017
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.020 AlteredExpression group BEFREE Positive UGP2 and CFL1 expression in cases with high differentiation, no lymph node metastasis, no surrounding invasion, and TNM (tumor-node-metastasis) staging I or/and II were significantly lower than those in cases with poor differentiation, lymph node metastasis, surrounding invasion, and TNM stage III and/or IV. 29347944 2018
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.020 Biomarker group BEFREE Overexpression of lncRNA-SVUGP2 in HepG2 and Hep3B liver cancer cells suppresses cell proliferation <i>in vitro</i> and tumor growth <i>in vivo</i>. 29228655 2017
CUI: C0085584
Disease: Encephalopathies
Encephalopathies
0.010 GeneticVariation group BEFREE Our study identifies a recurrent start codon mutation in UGP2 as a cause of a novel autosomal recessive DEE syndrome. 31820119 2020
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
0.010 Biomarker disease BEFREE Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases. 31820119 2020
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma
0.010 AlteredExpression disease BEFREE Our data reveal that lncRNA-SVUGP2 is under-expressed in NSCLC cells and the reduced expression of lncRNA-SVUGP2 may enhance the development and process of NSCLC by interacting with EZH2 and activating Wnt/β-catenin pathway. 31401873 2019
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
0.010 GeneticVariation disease BEFREE Based on the random survival forest model, we identified UDP-glucose pyrophosphorylase 2 (UGP2) (upregulated gene) had a significant effect on GBM prognosis. 30816613 2019
CUI: C0017638
Disease: Glioma
Glioma
0.010 AlteredExpression disease BEFREE Furthermore, UGP2 expression is aberrantly overexpressed in human glioma and positively correlated with pathologic grade. 30816613 2019
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme
0.010 GeneticVariation disease BEFREE Based on the random survival forest model, we identified UDP-glucose pyrophosphorylase 2 (UGP2) (upregulated gene) had a significant effect on GBM prognosis. 30816613 2019
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma
0.010 AlteredExpression disease BEFREE Positive expression of UGP2 and CFL1 can serve a valuable prognostic factor in pancreatic cancer. 29347944 2018
CUI: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas
0.010 AlteredExpression disease BEFREE Positive expression of UGP2 and CFL1 can serve a valuable prognostic factor in pancreatic cancer. 29347944 2018
CUI: C0887833
Disease: Carcinoma, Pancreatic Ductal
Carcinoma, Pancreatic Ductal
0.010 AlteredExpression disease BEFREE This study investigated UGP2 (uridine diphosphate-glucose pyrophosphorylase-2) and CFL1 (cofilin-1) expression in pancreatic ductal carcinoma (PDC), paracancerous tissue (PT), benign lesions (BL), and normal tissue (NT) and their clinicopathological significance. 29347944 2018
Paroxysmal Nonkinesigenic Dyskinesia 1
0.010 AlteredExpression disease BEFREE UGP2 and CFL1 expression in PDC were positively correlated. 29347944 2018