HNF1A, HNF1 homeobox A, 6927

N. diseases: 292; N. variants: 105
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.800 CausalMutation disease CGI
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.800 GeneticVariation disease UNIPROT
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.800 Biomarker disease BEFREE This indicates that the preferential expression from the large surface antigen promoter in the differentiated hepatoma cell lines is probably mediated by HNF1 or an HNF1-related transcription factor. 2157890 1990
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.800 AlteredExpression disease BEFREE Expression of the same dominant negative mutant in human hepatoma HepG2 cells only partially inhibited endogenous LFB1 activity, due to stabilization of LFB1 dimers in these cells. 1331985 1992
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.800 AlteredExpression disease BEFREE It has been demonstrated that the hepatocyte nuclear factor 1 (HNF1) binding site is critical for the majority of the hepatitis B virus (HBV) large surface antigen promoter activity in differentiated hepatoma cell lines. 7931153 1994
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.800 AlteredExpression disease BEFREE These results suggest that the extremely proximal promoter region of the AFP gene where glucocorticoid-responsive element and HNF-1 binding sites exist is not responsible for the re-expression of AFP in HCC. 7511984 1994
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.800 AlteredExpression disease BEFREE The competitive reverse transcriptional polymerase chain reaction was employed to amplify HNF-1 and vHNF-1 mRNA simultaneously and to examine their expression ratio in total RNA extracted from frozen liver tissues of 37 patients with hepatocellular carcinoma, five patients with hepatoblastoma, and 15 non-neoplastic liver tissues. 8912143 1996
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.800 AlteredExpression disease BEFREE These findings show that poor histological differentiation of HCC correlates with decreases in the level and activity of HNF-1 alpha proteins. 9614379 1998
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.800 Biomarker disease BEFREE These results indicate that inactivation of TCF1, whether sporadic or associated with MODY3, is an important genetic event in the occurrence of human liver adenoma, and may be an early step in the development of some HCCs. 12355088 2002
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.800 AlteredExpression disease BEFREE Furthermore, among these four transcription factors, HNF-4 alpha and HNF-1 alpha expressions showed synchronism and had a close relation with HCC differentiation. 12967472 2003
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.800 Biomarker disease BEFREE We identified hepatic nuclear factor 1 (HNF1) as an important liver-specific trans-acting element for the human ACAT2 gene using the human hepatocellular carcinoma cell lines HuH7 and HepG2. 15961790 2005
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.800 GeneticVariation disease BEFREE The -803 G > A SNP influenced the transcription efficiency in a hepatocarcinoma cell line as well as the binding efficiency of hepatocyte nuclear factor 1 alpha to the motif. 17006670 2007
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.800 AlteredExpression disease BEFREE Re-expression of HNF-1 in HCC cells reinduced MIA2 in HCC cells to similar levels as found in PHH. 17881540 2008
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.800 Biomarker disease BEFREE Among these tumors, biallelic inactivating mutations of the hepatocyte nuclear factor 1alpha (HNF1A) transcription factor have been frequently identified and in rare cases of hepatocellular carcinomas developed in noncirrhotic liver. 20041408 2010
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.800 AlteredExpression disease BEFREE HJV promoter analysis revealed potential HNF-1α and snail-binding sites, but functional analysis ruled out that these transcriptional regulators or promoter methylation are the cause of HJV downregulation in HCC. 21863061 2011
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.800 GeneticVariation disease BEFREE Biallelic inactivating mutations of HNF1A have been frequently identified in hepatocellular adenomas (HCA), rare benign liver tumors usually developed in women under oral contraceptives, and in rare cases of hepatocellular carcinomas developed in non-cirrhotic liver. 21975049 2011
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.800 Biomarker disease BEFREE Key features include metabolic alterations (induced by defects in HNF1A), oncogene-induced inflammation (activation of JAK-STAT signaling in inflammatory adenomas), and an association between activation of Wnt/β-catenin signaling and progression of HCAs in hepatocellular carcinomas. 23485860 2013
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.800 Biomarker disease BEFREE Mutation analysis of HNF1A [encoding hepatocyte nuclear factor 1 (HNF1)α] was performed for L-FABP-negative HCC cases. 25516669 2014
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.800 AlteredExpression disease BEFREE Thus, we identified a pathway in which TNFα-NF-κB signaling switches off negative regulation by suppressing HNF-1α-mediated expression of miR-194, revealing insight into the mechanisms linking inflammatory pathways, miRNA, and HCC metastasis. 26221053 2015
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.800 Biomarker disease BEFREE Our previous studies have demonstrated the therapeutic effects of HNF1α on hepatic fibrosis and hepatocellular carcinoma (HCC) in animals. 28547778 2017
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.800 Biomarker disease BEFREE Further analyses revealed a key role of ERK leading to increased phosphorylation of p90-ribosomal S6 kinase (RSK) and a concomitant activation of ETS-like transcription factor-1(ELK1) and Death Receptor protein-5 (DR5) in HCC. 29263422 2017
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.800 AlteredExpression disease BEFREE The expression in HA was variable and differed between molecular subtypes of this neoplasm: inflammatory and HNF1A mutation-associated type are characterized by overexpression of c-MET to an extent comparable with poorly-differentiated HCC, whereas Wnt/β-catenin dysfunction-associated type lacks overexpression, and the amount of c-MET protein accumulated in its cells is similar to the levels in non-neoplastic tissue and well- to moderately-differentiated HCC. 29256857 2017
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.800 AlteredExpression disease BEFREE Among these lncRNAs, the expression levels of HNF1A-AS1 were notably correlated with HNF1α levels in HCC cells and human HCC tissues. 29466992 2018
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.800 Therapeutic disease RGD Among these lncRNAs, the expression levels of HNF1A-AS1 were notably correlated with HNF1α levels in HCC cells and human HCC tissues. 29466992 2018
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.800 GeneticVariation disease BEFREE In this study, the point mutation of HNF1α gene with c.A1532 > T/p.Q511L was identified in an HCC patient by exon-capture high-throughput sequencing. 29101032 2018