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: C4551506
Disease: Paroxysmal Nonkinesigenic Dyskinesia 1
Paroxysmal Nonkinesigenic Dyskinesia 1 		0.010 AlteredExpression disease BEFREE UGP2 and CFL1 expression in PDC were positively correlated. 29347944 2018
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: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.010 Biomarker phenotype BEFREE Additionally, lncRNA-SVUGP2 positively or negatively correlates with many mRNAs in liver cancer tissues, indicating it is multifunctional in regulating carcinogenesis. 29228655 2017
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: 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: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.040 Biomarker disease BEFREE Correction: LncRNA-SVUGP2 suppresses progression of hepatocellular carcinoma. 30131857 2018
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: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.010 Biomarker disease BEFREE Interestingly, for three of these genes, that is, ankyrin repeat domain 28 (ANKRD28), guanine nucleotide binding protein, alpha 15 (GNA15) and UDP-glucose pyrophosphorylase 2 (UGP2), a high transcript level was associated with a significant poorer overall survival (OS) in two independent cohorts (n=163 and n=218) of normal karyotype AML. 21760593 2011
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.040 Biomarker disease BEFREE LncRNA-SVUGP2 suppresses progression of hepatocellular carcinoma. 29228655 2017
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: 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: 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: C0220630
Disease: Adult Liver Carcinoma
Adult Liver Carcinoma 		0.010 Biomarker disease 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: C0279000
Disease: Liver and Intrahepatic Biliary Tract Carcinoma
Liver and Intrahepatic Biliary Tract Carcinoma 		0.010 Biomarker disease 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: C0345904
Disease: Malignant neoplasm of liver
Malignant neoplasm of liver 		0.010 Biomarker disease 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: 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: 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: 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: 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: 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