PDX1, pancreatic and duodenal homeobox 1, 3651

N. diseases: 185; N. variants: 22
Disease: Congenital Abnormality ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.010 GeneticVariation group BEFREE The unusual presentation in this Brazilian family enabled expansion upon a rare disease phenotype, demonstrating the possibility of detecting pancreatic malformation even in cases of PDX1 -related diabetes diagnosed after the first year of life. 28436541 2018