HNF4A, hepatocyte nuclear factor 4 alpha, 3172

N. diseases: 340; N. variants: 74
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma
0.010 Biomarker disease BEFREE However, the precise role of T cell factors/lymphoid enhancer-binding factor (TCFs/LEF) family members, which are the major binding complex of β-catenin, in OS is poorly understood. 31595984 2020
CUI: C0585442
Disease: Osteosarcoma of bone
Osteosarcoma of bone
0.010 Biomarker disease BEFREE However, the precise role of T cell factors/lymphoid enhancer-binding factor (TCFs/LEF) family members, which are the major binding complex of β-catenin, in OS is poorly understood. 31595984 2020
CUI: C1332986
Disease: Childhood Osteosarcoma
Childhood Osteosarcoma
0.010 Biomarker disease BEFREE However, the precise role of T cell factors/lymphoid enhancer-binding factor (TCFs/LEF) family members, which are the major binding complex of β-catenin, in OS is poorly understood. 31595984 2020
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation
0.010 GeneticVariation disease BEFREE Bleeding complications during warfarin therapy in patients with mechanical heart valves were associated with HNF4A polymorphisms and atrial fibrillation. 31461081 2019
CUI: C0016169
Disease: pathologic fistula
pathologic fistula
0.010 Biomarker phenotype BEFREE To determine the frequency and risk factors that lead to the development of persistent TCF (tracheocutaneous fistula) formation in children following tracheostomy decannulation at our institution. 31299421 2019
CUI: C0017178
Disease: Gastrointestinal Diseases
Gastrointestinal Diseases
0.010 Biomarker group BEFREE In this review, we will update our current understanding on the role of HNF4α in human liver and gastrointestinal diseases. 31435165 2019
CUI: C0019187
Disease: Hepatitis, Alcoholic
Hepatitis, Alcoholic
0.010 AlteredExpression disease BEFREE Defective HNF4alpha-dependent gene expression as a driver of hepatocellular failure in alcoholic hepatitis. 31311938 2019
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
0.010 AlteredExpression disease BEFREE Functional annotation revealed that WD-hypermethylated liver DMRs were enriched in liver-specific enhancers, flanking active liver promoters, and binding sites of liver developmental transcription factors, including Hepatocyte Nuclear Factor 4 alpha (HNF4A), Retinoid X Receptor alpha (RXRA), Forkhead Box A1 (FOXA1), and FOXA2. 30709419 2019
CUI: C0022638
Disease: Ketosis
Ketosis
0.010 Biomarker disease BEFREE Most interestingly, several candidate genes, including previously reported genes (BMP4, HNF4A and APOBR) and newly identified genes (SOCS4, GCH1, ATG14, RGS6, CYP7A1 and MAPK3), are involved in insulin metabolism or lipid metabolism, implicating the contribution of energy-metabolism-associated genes to the genetic basis of KET. 31179571 2019
CUI: C0022679
Disease: Cystic kidney
Cystic kidney
0.010 GeneticVariation disease BEFREE A cross-sectional study of patients referred for HNF1B-MODY genetic testing due to cystic kidneys and diabetes. 31825128 2019
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome
0.010 Biomarker disease BEFREE However, it remains unclear whether HNF-4α is indirectly involved in the pathogenesis of PCOS via regulation of hepatic SHBG synthesis. 31525346 2019
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma
0.010 AlteredExpression disease BEFREE Flow cytometry assay then determined that TCF over-expression helps HCC cell G1/S phase transition, and further research showed that TCF19 up-regulation inhibits p57Kip2, p21Cip1 and p27Kip1 cell cycle suppressors, enhances the expression of cyclin D1 expression and simulates retinoblastoma (Rb), FOXO1 and AKT phosphorylation. 30509085 2019
CUI: C0085605
Disease: Liver Failure
Liver Failure
0.010 Biomarker disease BEFREE These results indicate the role of HNF4α in LR and have implications for therapy of liver failure. 30520062 2019
CUI: C0085786
Disease: Hamman-Rich syndrome
Hamman-Rich syndrome
0.010 AlteredExpression disease BEFREE The purposes of the present study are to report the frequency and distribution of HNF4α-expressing cells at the different airway levels, and to investigate the potential significance of the expression of HNF4α in the histogenesis of non-TRU LADC with a special reference to the relationship to bronchiolar metaplasia in idiopathic interstitial pneumonia. 30848476 2019
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors
0.010 GeneticVariation group BEFREE The research demonstrated that NR2A1 polymorphisms may act as contributors of IM pharmacokinetics and responses in Chinese GIST patients. 31045869 2019
CUI: C0271702
Disease: Iatrogenic hyperinsulinism
Iatrogenic hyperinsulinism
0.010 GeneticVariation phenotype BEFREE We therefore determined the relative contributions of hyperglycemia and iatrogenic hyperinsulinemia to insulin resistance using hyperinsulinemic-euglycemic clamps in three participant groups (<i>n</i> = 10/group) with differing insulinemia and glycemia: healthy control subjects (euinsulinemia and euglycemia), glucokinase-maturity-onset diabetes of the young (GCK-MODY; euinsulinemia and hyperglycemia), and type 1 diabetes (hyperinsulinemia and hyperglycemia matching GCK-MODY). 31092478 2019
CUI: C0281361
Disease: Adenocarcinoma of pancreas
Adenocarcinoma of pancreas
0.010 Biomarker disease BEFREE However, the role of HNF4α in pancreatic adenocarcinoma (PDAC) has not been studied extensively and remains unclear. 30867652 2019
CUI: C0300948
Disease: Caudal Regression Syndrome
Caudal Regression Syndrome
0.010 Biomarker disease BEFREE This case raises the question as to whether hyperglycaemia in GCK-MODY may increase the risk of fetal caudal regression syndrome as reported in women with pre-existing diabetes mellitus. 30362177 2019
CUI: C0340231
Disease: Tracheobronchomalacia
Tracheobronchomalacia
0.010 Biomarker disease BEFREE Development of a persistent TCF was associated with younger age at placement, longer duration of tracheostomy, and the presence of tracheobronchomalacia. 31299421 2019
CUI: C0424295
Disease: Hyperactive behavior
Hyperactive behavior
0.010 GeneticVariation phenotype BEFREE A similar relative hyper-enrichment was seen at the hnf4a loci of irradiated Atlantic salmon (Salmo salar) embryos (30 mGy/h for 10 days). 30759148 2019
Familial multiple trichoepitheliomata
0.010 Biomarker disease BEFREE Collectively, these data provide a new way to categorize EAC at a genome scale and implicate HNF4A activation as a potential pivotal event in its malignant transition from healthy cells. 30962179 2019
ANOPHTHALMIA AND PULMONARY HYPOPLASIA
0.010 AlteredExpression disease BEFREE IHC was utilized to assess the correlation between HNF4α and human equilibrative nucleoside transporter 1 (hENT1) expression in PDAC patients. 30867652 2019
CUI: C3495427
Disease: Fanconi-Bickel Syndrome
Fanconi-Bickel Syndrome
0.010 Biomarker disease BEFREE Mutations in the genes encoding the pancreatic K<sub>ATP</sub> channels can also lead to different types of diabetes (including neonatal diabetes mellitus (NDM) and Maturity Onset Diabetes of the Young, MODY), and defects in the solute carrier family 2 member 2 (<i>SLC2A2</i>) leads to diabetes mellitus as part of the Fanconi-Bickel syndrome. 31137773 2019
Idiopathic non-cirrhotic portal hypertension
0.010 Biomarker disease BEFREE However, HNF4α loss in adult hepatocytes could induce abnormal portal structures resembling the human idiopathic non-cirrhotic portal hypertension syndrome, which may result from endothelial- and epithelial-to-mesenchymal transitions. 30721564 2019
CUI: C0014175
Disease: Endometriosis
Endometriosis
0.010 Biomarker disease BEFREE Specifically, some key regulators from the miR-449 and miR-34b/c cluster, miR-200 family, miR-106a-363 cluster, miR-182/183, FOX family, GATA family, and E2F family as well as CEBPA, SOX9 and HNF4A were suggested to play vital regulatory roles in the pathogenesis of endometriosis. 29357938 2018