FOXA2, forkhead box A2, 3170

N. diseases: 143; N. variants: 1
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3888018
Disease: Congenital Hyperinsulinism
Congenital Hyperinsulinism 		0.340 GeneticVariation disease BEFREE We report a mutation in FOXA2 leading to congenital hyperinsulinism and hypopituitarism and provide functional evidence of the molecular mechanism responsible for this phenotype. 29329447 2018
CUI: C3888018
Disease: Congenital Hyperinsulinism
Congenital Hyperinsulinism 		0.340 Biomarker disease GENOMICS_ENGLAND We report a mutation in FOXA2 leading to congenital hyperinsulinism and hypopituitarism and provide functional evidence of the molecular mechanism responsible for this phenotype. 29329447 2018
CUI: C3888018
Disease: Congenital Hyperinsulinism
Congenital Hyperinsulinism 		0.340 GeneticVariation disease BEFREE In this study, we identified a de novo heterozygous mutation in the developmental transcription factor, forkhead box A2, FOXA2 (c.505T>C, p.S169P) in a child with CHI and CH with craniofacial dysmorphic features, choroidal coloboma and endoderm-derived organ malformations in liver, lung and gastrointestinal tract by whole exome sequencing. 28973288 2017
CUI: C3888018
Disease: Congenital Hyperinsulinism
Congenital Hyperinsulinism 		0.340 Biomarker disease BEFREE Conditional Tissue-Specific Foxa2 Ablation in Mouse Pancreas Causes Hyperinsulinemic Hypoglycemia: RETRACTED. 28288081 2017
CUI: C3888018
Disease: Congenital Hyperinsulinism
Congenital Hyperinsulinism 		0.340 Biomarker disease BEFREE The Foxa2(loxP/loxP); Ins.Cre mice will serve as a unique model to investigate the regulation of insulin secretion by the beta cell and suggest the human FOXA2 as a candidate gene for familial hyperinsulinism. 11445544 2001
CUI: C0020635
Disease: Hypopituitarism
Hypopituitarism 		0.320 GeneticVariation disease BEFREE We report a mutation in FOXA2 leading to congenital hyperinsulinism and hypopituitarism and provide functional evidence of the molecular mechanism responsible for this phenotype. 29329447 2018
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism 		0.320 GeneticVariation disease BEFREE Novel FOXA2 mutation causes Hyperinsulinism, Hypopituitarism with Craniofacial and Endoderm-derived organ abnormalities. 28973288 2017
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism 		0.320 Biomarker disease GENOMICS_ENGLAND Our results show, for the first time, the causative role of FOXA2 in a complex congenital syndrome with hypopituitarism, hyperinsulinism and endoderm-derived organ abnormalities. 28973288 2017
CUI: C0020635
Disease: Hypopituitarism
Hypopituitarism 		0.320 Biomarker disease BEFREE Our results show, for the first time, the causative role of FOXA2 in a complex congenital syndrome with hypopituitarism, hyperinsulinism and endoderm-derived organ abnormalities. 28973288 2017
CUI: C0020635
Disease: Hypopituitarism
Hypopituitarism 		0.320 Biomarker disease GENOMICS_ENGLAND Novel FOXA2 mutation causes Hyperinsulinism, Hypopituitarism with Craniofacial and Endoderm-derived organ abnormalities. 28973288 2017
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism 		0.320 AlteredExpression disease BEFREE Chronic hyperinsulinaemia in insulin-resistant syndromes results in the cytoplasmic localization and inactivation of Foxa2, thereby promoting lipid accumulation and insulin resistance in the liver. 15616563 2004
CUI: C0024115
Disease: Lung diseases
Lung diseases 		0.310 Biomarker group CTD_human Effects of antioxidant vitamins on molecular regulators involved in lung hypoplasia induced by nitrofen. 16863852 2006
CUI: C0024115
Disease: Lung diseases
Lung diseases 		0.310 Biomarker group BEFREE Analysis of lung tissue from patients with a variety of pulmonary diseases revealed a strong inverse correlation between FOXA2 and goblet cell hyperplasia. 14757645 2004
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: C0019284
Disease: Diaphragmatic Hernia
Diaphragmatic Hernia 		0.300 Biomarker phenotype CTD_human Effects of antioxidant vitamins on molecular regulators involved in lung hypoplasia induced by nitrofen. 16863852 2006
CUI: C0011853
Disease: Diabetes Mellitus, Experimental
Diabetes Mellitus, Experimental 		0.200 Biomarker disease RGD SLC2A2 gene expression in kidney of diabetic rats is regulated by HNF-1alpha and HNF-3beta. 19433262 2009
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.100 AlteredExpression group BEFREE Notably, FOXA3 expression levels were positively correlated with FOXA1 and FOXA2 expression levels according to The Cancer Genome Atlas dataset analysis. 30944629 2019
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.100 AlteredExpression group BEFREE Moreover, the expression levels of FOXA1, and FOXA3 are also highly expressed, while FOXA2 were decreased in almost all cancer cell lines, particularly in lung cancer cell lines, analyzing by Cancer Cell Line Encyclopedia (CCLE) and EMBL-EBI databases. 30415009 2019
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		0.100 AlteredExpression phenotype BEFREE Upregulated forkhead-box A3 elevates the expression of forkhead-box A1 and forkhead-box A2 to promote metastasis in esophageal cancer. 30944629 2019
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		0.100 Biomarker phenotype BEFREE We have previously reported that miR-590-3p promoted ovarian cancer growth and metastasis, in part by targeting Forkhead box A (FOXA2). 31013711 2019
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		0.100 AlteredExpression phenotype BEFREE <b>Results:</b> HNF3β expression was lower in colon cancer tissue compared to normal tissue and correlated with UICC clinical stage (<i>P</i> = 0.001), depth of invasion (<i>P</i> = 0.004), regional lymph node metastasis (<i>P</i> = 0.007), distant metastasis (<i>P</i> = 0.048), and poor survival (<i>P</i> < 0.001) in patients with colorectal cancer. 31696055 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.100 AlteredExpression group BEFREE Univariate and multivariate analyses showed that low FoxA2 expression was associated with tumor relapse and survival. 31689237 2019
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.100 AlteredExpression phenotype BEFREE <b>Results:</b> HNF3β expression was lower in colon cancer tissue compared to normal tissue and correlated with UICC clinical stage (<i>P</i> = 0.001), depth of invasion (<i>P</i> = 0.004), regional lymph node metastasis (<i>P</i> = 0.007), distant metastasis (<i>P</i> = 0.048), and poor survival (<i>P</i> < 0.001) in patients with colorectal cancer. 31696055 2019
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.100 AlteredExpression phenotype BEFREE FOXA2, which was proved as the direct target gene for miR-942 and was low-expressed in BCa, partially reversed the effect of overexpressed miR-942 on promoting cell viability, proliferation, migration and invasion, and suppressed cell apoptosis. 31701999 2019
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.100 AlteredExpression group BEFREE Notably, FOXA3 expression levels were positively correlated with FOXA1 and FOXA2 expression levels according to The Cancer Genome Atlas dataset analysis. 30944629 2019