PDX1, pancreatic and duodenal homeobox 1, 3651

N. diseases: 185; N. variants: 22
Disease: Diabetes ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0011847
Disease: Diabetes
Diabetes 		0.100 Biomarker disease BEFREE Whereas heterozygous mutations in islet-cell transcription factors such as IPF1/IDX-1/STF-1/PDX-1 and NEUROD1/BETA2 serve as a genetic cause of diabetes or glucose intolerance, we investigated the possibility of PAX6 gene mutations being a genetic factor common to aniridia and diabetes. 11756345 2002
CUI: C0011847
Disease: Diabetes
Diabetes 		0.100 GeneticVariation disease BEFREE The significance of the P2 promoter was shown by the identification of a mutation in the IPF-1 binding site of the alternative promoter which cosegregated with diabetes in a large MODY family. 12242469 2002
CUI: C0011847
Disease: Diabetes
Diabetes 		0.100 Biomarker disease BEFREE Heterozygous mutations in the gene result in impaired glucose tolerance and symptoms of diabetes as seen in MODY4 and late-onset Type II (non-insulin-dependent) diabetes mellitus. 11692168 2001
CUI: C0011847
Disease: Diabetes
Diabetes 		0.100 GeneticVariation disease BEFREE We carried out mutation screening of the IPF1 gene in 115 Scandinavian families with at least two members with onset of diabetes younger than 40 years. 11270685 2001
CUI: C0011847
Disease: Diabetes
Diabetes 		0.100 GeneticVariation disease BEFREE We demonstrate the significance of this alternative promoter in a large MODY family where a mutated IPF-1 binding site in the P2 promoter of the HNF-4alpha gene co-segregates with diabetes (LOD score 3.25). 11590126 2001
CUI: C0011847
Disease: Diabetes
Diabetes 		0.100 Biomarker disease BEFREE Mutations in transcription factors that play a role in the development of the endocrine pancreas, such as insulin promoter factor-1 and NeuroD1/BETA2, have been associated with diabetes. 11246894 2001
CUI: C0011847
Disease: Diabetes
Diabetes 		0.100 Biomarker disease BEFREE Mutations in the homeobox gene Ipf1/Pdx1 are linked to diabetes in both mouse and human. 11130726 2000
CUI: C0011847
Disease: Diabetes
Diabetes 		0.100 GeneticVariation disease BEFREE Unusual causes of diabetes have been identified, including autosomal dominant, single gene forms due to mutations of glucokinase, the hepatocyte nuclear factors, and insulin promoter factor 1. 11467342 2000
CUI: C0011847
Disease: Diabetes
Diabetes 		0.100 GeneticVariation disease BEFREE It should be emphasized that MODY comprises two discrete clinical syndromes: glucokinase diabetes and transcription factor diabetes, the latter of which results from mutations in the genes encoding hepatocyte nuclear factor (HNF)-1alpha, HNF-1beta, HNF-4alpha and insulin promoter factor-1. 11202217 2000
CUI: C0011847
Disease: Diabetes
Diabetes 		0.100 Biomarker disease BEFREE All of the five known MODY genes, HNF-4alpha, glucokinase, HNF-1alpha, HNF-1beta, and IPF1, were previously excluded as being the cause of diabetes in these families. 10868949 2000
CUI: C0011847
Disease: Diabetes
Diabetes 		0.100 Biomarker disease BEFREE The identification of mutations in hepatocyte nuclear factors-1alpha, -4alpha, -1beta and insulin promoter factor-1 in maturity onset diabetes of the young (MODY) has highlighted the role that transcription factors may have in the development of diabetes. 10230653 1999
CUI: C0011847
Disease: Diabetes
Diabetes 		0.100 GeneticVariation disease BEFREE Patients with HNF4alpha and IPF1 mutations show a similar clinical picture to HNF1alpha although diabetes may be diagnosed later. 9472859 1998
CUI: C0011847
Disease: Diabetes
Diabetes 		0.100 GeneticVariation disease BEFREE This circumstance suggests that the mechanism of diabetes in these individuals may be due not only to reduced gene dosage, but also to a dominant negative inhibition of transcription of the insulin gene and other beta cell-specific genes regulated by the mutant IPF-1. 9649577 1998