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: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		0.200 Biomarker group BEFREE ZnT8-TripleA was detected in 1678 (65%) patients with T1D, 4 (9%) T2D, 3 (11%) MODY and in none (0%) of the patients with secondary diabetes. 21708156 2011
CUI: C0011847
Disease: Diabetes
Diabetes 		0.100 Biomarker disease BEFREE ZnT8-TripleA was detected in 1678 (65%) patients with T1D, 4 (9%) T2D, 3 (11%) MODY and in none (0%) of the patients with secondary diabetes. 21708156 2011
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		0.100 Biomarker disease BEFREE ZnT8-TripleA was detected in 1678 (65%) patients with T1D, 4 (9%) T2D, 3 (11%) MODY and in none (0%) of the patients with secondary diabetes. 21708156 2011
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.050 AlteredExpression disease BEFREE Wnt is a complex signaling pathway whose endpoint involves activation of transcription from LEF-1/TCF transcription factors and it is known to be involved in the development and progression of numerous human epithelial tumors including prostate cancer. beta-catenin protein, a particularly critical molecular component of canonical Wnt signaling is now known to promote androgen signaling through its ability to bind to the AR protein in a ligand-dependent fashion and to enhance the ability of liganded AR to activate transcription of androgen-regulated genes. 16741972 2006
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		0.040 AlteredExpression disease BEFREE Wnt is a complex signaling pathway whose endpoint involves activation of transcription from LEF-1/TCF transcription factors and it is known to be involved in the development and progression of numerous human epithelial tumors including prostate cancer. beta-catenin protein, a particularly critical molecular component of canonical Wnt signaling is now known to promote androgen signaling through its ability to bind to the AR protein in a ligand-dependent fashion and to enhance the ability of liganded AR to activate transcription of androgen-regulated genes. 16741972 2006
CUI: C1368683
Disease: Epithelioma
Epithelioma 		0.010 AlteredExpression disease BEFREE Wnt is a complex signaling pathway whose endpoint involves activation of transcription from LEF-1/TCF transcription factors and it is known to be involved in the development and progression of numerous human epithelial tumors including prostate cancer. beta-catenin protein, a particularly critical molecular component of canonical Wnt signaling is now known to promote androgen signaling through its ability to bind to the AR protein in a ligand-dependent fashion and to enhance the ability of liganded AR to activate transcription of androgen-regulated genes. 16741972 2006
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.100 Biomarker phenotype BEFREE WNT - beta-catenin - TCF pathway is involved in carcinogenesis and fetal development. 11408932 2001
CUI: C0009319
Disease: Colitis
Colitis 		0.020 Biomarker disease BEFREE While HNF4alpha does not have a major role in normal function of the intestine, it protects the gut against DSS-induced colitis. 18338782 2008
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		1.000 GeneticVariation disease BEFREE Whereas common variants in the MODY genes contribute very modestly to type 2 diabetes susceptibility in adults, major findings emerging from the advent of genome-wide association studies will deliver an increasing number of genes and new pathways for the pathological events of the disease. 18436708 2008
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		0.040 AlteredExpression disease BEFREE Western blot analysis and polymerase chain reaction assessment showed that NB cells express neither HNF4alpha nor the splicing variant HNF4alpha7 and thus express EPO in an HNF4alpha-independent manner. 12239177 2002
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.040 AlteredExpression disease BEFREE Western blot analysis and polymerase chain reaction assessment showed that NB cells express neither HNF4alpha nor the splicing variant HNF4alpha7 and thus express EPO in an HNF4alpha-independent manner. 12239177 2002
CUI: C4086165
Disease: Childhood Neuroblastoma
Childhood Neuroblastoma 		0.040 AlteredExpression disease BEFREE Western blot analysis and polymerase chain reaction assessment showed that NB cells express neither HNF4alpha nor the splicing variant HNF4alpha7 and thus express EPO in an HNF4alpha-independent manner. 12239177 2002
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases 		0.020 Biomarker group BEFREE Weak or transient β-cell autoimmunity should not preclude genetic testing for MODY when the clinical features are suggestive. 23352578 2013
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: C0020459
Disease: Hyperinsulinism
Hyperinsulinism 		0.200 AlteredExpression disease BEFREE We suggest that hyperinsulinemia represses Tcf gene expression in the pancreas. 20675304 2010
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		0.090 Biomarker disease BEFREE We studied three TFs, SOX2, CDX2, and hepatocyte nuclear factor 4 alpha-promoter 1 (HNF4aP1) in GC. 21487519 2011
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		0.090 Biomarker disease BEFREE We studied three TFs, SOX2, CDX2, and hepatocyte nuclear factor 4 alpha-promoter 1 (HNF4aP1) in GC. 21487519 2011
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		0.200 GeneticVariation group BEFREE We studied mutations in MODY1-4 genes, the presence of GAD antibodies, and HLA DQB1 risk genotypes in 66 Swedish women with GDM and a family history of diabetes. 11772903 2002
CUI: C0011847
Disease: Diabetes
Diabetes 		0.100 GeneticVariation disease BEFREE We studied mutations in MODY1-4 genes, the presence of GAD antibodies, and HLA DQB1 risk genotypes in 66 Swedish women with GDM and a family history of diabetes. 11772903 2002
CUI: C0085207
Disease: Gestational Diabetes
Gestational Diabetes 		0.100 GeneticVariation phenotype BEFREE We studied mutations in MODY1-4 genes, the presence of GAD antibodies, and HLA DQB1 risk genotypes in 66 Swedish women with GDM and a family history of diabetes. 11772903 2002
CUI: C0162429
Disease: Malnutrition
Malnutrition 		0.010 Biomarker disease BEFREE We sought to determine the nature of the exocrine dysfunction in CEL-MODY and relate the findings to clinical parameters of malnutrition. 23770712 2013
CUI: C0334037
Disease: Intestinal metaplasia
Intestinal metaplasia 		0.020 AlteredExpression phenotype BEFREE We showed evidence that HNF4γ (upregulated in intestinal metaplasia) is targeted by miR-30 and that miR-194 targets a known co-regulator of HNF4 activity, NR2F2 (downregulated in intestinal metaplasia). 25800782 2016
CUI: C0019196
Disease: Hepatitis C
Hepatitis C 		0.050 AlteredExpression disease BEFREE We show in HCV infection that NIK expression is increased while both HNF4A and miR-122 levels are decreased. 31363036 2019
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.100 AlteredExpression disease BEFREE We show here that beta-catenin and TCF inversely control the expression of the EphB2/EphB3 receptors and their ligand ephrin-B1 in colorectal cancer and along the crypt-villus axis. 12408869 2002
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.080 AlteredExpression disease BEFREE We show here that beta-catenin and TCF inversely control the expression of the EphB2/EphB3 receptors and their ligand ephrin-B1 in colorectal cancer and along the crypt-villus axis. 12408869 2002