PDX1, pancreatic and duodenal homeobox 1, 3651

N. diseases: 185; N. variants: 22
Disease: Diabetes ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137852783
rs137852783
Entrez Id: 3651
Gene Symbol: PDX1
PDX1
CUI: C0011847
Disease:
Diabetes 		0.040 GeneticVariation BEFREE The D76N variant of PDX1 does not significantly alter insulin secretion or act as a high-risk susceptibility allele for late-onset type 2 diabetes as proposed previously, although we cannot exclude a minor role in increasing risk of diabetes. 15277425 2004
dbSNP: rs137852783
rs137852783
Entrez Id: 3651
Gene Symbol: PDX1
PDX1
CUI: C0011847
Disease:
Diabetes 		0.040 GeneticVariation BEFREE Neither the D76N nor the A140T segregated with diabetes, and their transcriptional activation of the human insulin promoter expressed in vitro was indistinguishable from that of the wild type (115 +/- 21% and 84 +/- 12% vs. 100%). 10720084 2000
dbSNP: rs137852783
rs137852783
Entrez Id: 3651
Gene Symbol: PDX1
PDX1
CUI: C0011847
Disease:
Diabetes 		0.040 GeneticVariation BEFREE We did not detect the D76N variant, which was the most frequent variant in subjects with a strong family history of diabetes, in patients or controls. 11022198 2000
dbSNP: rs137852783
rs137852783
Entrez Id: 3651
Gene Symbol: PDX1
PDX1
CUI: C0011847
Disease:
Diabetes 		0.040 GeneticVariation BEFREE The lower penetrance D76N and Q59L mutations were more prevalent and were associated with a relative risk of 12.6 for diabetes and with decreased glucose-stimulated insulin-secretion in nondiabetic subjects. 10545531 1999