PAX4, paired box 4, 5078

N. diseases: 63; N. variants: 8
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.010 Biomarker disease BEFREE Several DEGs including SNCA, COX17, COX4I1, COX7B, COX6A1 and ATP5J targeted by Pax-4, Oct-1 and Evi-1 may involve in the neurodegeneration and pathogenesis of PD by regulating oxidative phosphorylation, ATP production and oxidative stress, which was benefit for uncovering the mechanism of PD and developing new diagnostic and therapeutic strategies. 28965931 2018
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.010 AlteredExpression group BEFREE Importantly, therapeutic intervention in NOD mice through nutritional supplementation or lentivirus-mediated expression of an ω-3 fatty acid desaturase, mfat-1, normalized blood glucose and insulin levels for at least 182 days, blocked the development of autoimmunity, prevented lymphocyte infiltration into regenerated islets, and sharply elevated the expression of the β cell markers pancreatic and duodenal homeobox 1 (Pdx1) and paired box 4 (Pax4). 28375156 2017
CUI: C0027796
Disease: Neuralgia
Neuralgia
0.010 Biomarker phenotype BEFREE We hope that this newly validated KPD-Q will be recognized in Korea as a credible tool for detection of NeP and thus may be used in further international clinical research. 27400761 2017
CUI: C0206754
Disease: Neuroendocrine Tumors
Neuroendocrine Tumors
0.010 Biomarker group BEFREE Expert opinion: Based on the current literature, we propose that future interventions to treat pancreatic neuroendocrine tumors and diabetes mellitus could be developed via the modulation of PAX4 and/or PAX6 regulated pathways. 27841034 2017
CUI: C0235950
Disease: Zinc deficiency
Zinc deficiency
0.010 AlteredExpression disease BEFREE Zinc deficiency was also associated with decreased expression of genes related to diabetes and pancreatic development in the embryo (Insa, Pax4, Pdx1). 28268202 2017
CUI: C0342257
Disease: Complications of Diabetes Mellitus
Complications of Diabetes Mellitus
0.010 GeneticVariation group BEFREE The molecular defect and alteration of PAX4 function associated with the mutation PAX4 IVS7-1G>A in a family with MODY9 and severe diabetic complications were studied. 25951767 2016
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.010 AlteredExpression group BEFREE Paired box gene 4 (PAX4) is a transcriptional modulator located on chromosome 7q32, and its expression is dysregulated in a variety of human cancers, suggesting that PAX4 may be important in multiple tumors as a driver gene. 25151965 2015
CUI: C0260037
Disease: Multiple tumors
Multiple tumors
0.010 Biomarker phenotype BEFREE Paired box gene 4 (PAX4) is a transcriptional modulator located on chromosome 7q32, and its expression is dysregulated in a variety of human cancers, suggesting that PAX4 may be important in multiple tumors as a driver gene. 25151965 2015
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
0.010 Biomarker phenotype BEFREE Here, we show that PAX4 promoted migration and invasion in human epithelial cancers by decreasing miR-144 and miR-451 (miR-144/451) expression levels. 25151965 2015
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma
0.010 Biomarker disease BEFREE The efficacy of the tankyrase inhibitor JW74 was evaluated in three OS cell lines (KPD, U2OS, and SaOS-2) both at the molecular and functional level. 24403055 2014
CUI: C0585442
Disease: Osteosarcoma of bone
Osteosarcoma of bone
0.010 Biomarker disease BEFREE The efficacy of the tankyrase inhibitor JW74 was evaluated in three OS cell lines (KPD, U2OS, and SaOS-2) both at the molecular and functional level. 24403055 2014
CUI: C1332986
Disease: Childhood Osteosarcoma
Childhood Osteosarcoma
0.010 Biomarker disease BEFREE The efficacy of the tankyrase inhibitor JW74 was evaluated in three OS cell lines (KPD, U2OS, and SaOS-2) both at the molecular and functional level. 24403055 2014
CUI: C0271650
Disease: Impaired glucose tolerance
Impaired glucose tolerance
0.010 GeneticVariation phenotype BEFREE The PAX4 variant might impact individual susceptibility against IGT and diabetes. 20485196 2010
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism
0.010 AlteredExpression disease BEFREE In vitro studies on non diabetic islets demonstrated that glucose, betacellulin, activin A, GLP-1 and insulin increased Pax4 mRNA levels. 17989064 2008
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.010 Biomarker group BEFREE These results suggest that PAX4 functions as a potent tumor suppressor. 18949370 2008
CUI: C0027960
Disease: Nevus
Nevus
0.010 AlteredExpression disease BEFREE As a result, we found that the expression levels of PAX4 and PAX9 were extremely low in melanoma tissues and cell lines compared to nevus pigmentosus tissues. 18949370 2008
CUI: C0027962
Disease: Melanocytic nevus
Melanocytic nevus
0.010 AlteredExpression disease BEFREE As a result, we found that the expression levels of PAX4 and PAX9 were extremely low in melanoma tissues and cell lines compared to nevus pigmentosus tissues. 18949370 2008
CUI: C1456781
Disease: Benign melanocytic nevus
Benign melanocytic nevus
0.010 AlteredExpression disease BEFREE As a result, we found that the expression levels of PAX4 and PAX9 were extremely low in melanoma tissues and cell lines compared to nevus pigmentosus tissues. 18949370 2008
CUI: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms
0.010 Biomarker group BEFREE This profile of PAX4 thus corresponds to that of a candidate oncogene in hematologic malignancies. 16701883 2006
CUI: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms
0.010 Biomarker group LHGDN This profile of PAX4 thus corresponds to that of a candidate oncogene in hematologic malignancies. 16701883 2006
CUI: C0021670
Disease: insulinoma
insulinoma
0.010 AlteredExpression disease BEFREE These data imply a role of PAX4 and PAX4v expression in tumorigenesis and development of insulinoma. 11263967 2001
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.010 AlteredExpression phenotype BEFREE These data imply a role of PAX4 and PAX4v expression in tumorigenesis and development of insulinoma. 11263967 2001
CUI: C0158981
Disease: Neonatal diabetes mellitus
Neonatal diabetes mellitus
0.010 Biomarker disease BEFREE It therefore appears unlikely that PAX4 is involved in the aetiology of Wolcott-Rallison syndrome, though it remains a good candidate for other forms of neonatal diabetes mellitus. 9598721 1998
CUI: C0432217
Disease: Wolcott-Rallison syndrome
Wolcott-Rallison syndrome
0.010 Biomarker disease BEFREE It therefore appears unlikely that PAX4 is involved in the aetiology of Wolcott-Rallison syndrome, though it remains a good candidate for other forms of neonatal diabetes mellitus. 9598721 1998
CUI: C0085207
Disease: Gestational Diabetes
Gestational Diabetes
0.020 GeneticVariation phenotype BEFREE The rs10229583 polymorphism near paired box gene 4 is associated with gestational diabetes mellitus in Chinese women. 28730907 2018