PDX1, pancreatic and duodenal homeobox 1, 3651

N. diseases: 185; N. variants: 22
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0085207
Disease: Gestational Diabetes
Gestational Diabetes
0.020 PosttranslationalModification phenotype BEFREE Altered expression of PGC-1α and PDX1 and their methylation status are associated with fetal glucose metabolism in gestational diabetes mellitus. 29730292 2018
CUI: C0085207
Disease: Gestational Diabetes
Gestational Diabetes
0.020 GeneticVariation phenotype BEFREE Our findings suggest that the P33T IPF1 mutation may provide an increased susceptibility to the development of gestational diabetes and MODY4 in the Italy-6 pedigree. 16092045 2005
CUI: C0085207
Disease: Gestational Diabetes
Gestational Diabetes
0.020 GeneticVariation phenotype LHGDN In an extended family (Italy-6) of 46 members with clinical phenotypes of gestational diabetes, MODY, and T2D, a single nucleotide change of CCT to ACT was identified at codon 33 resulting in a Pro to Thr substitution (P33T) in the IPF1 transactivation domain that also contributes to an altered metabolic status in the unaffected NM subjects. 16092045 2005