PDX1, pancreatic and duodenal homeobox 1, 3651

N. diseases: 185; N. variants: 22
Disease: Exocrine pancreatic insufficiency ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs387906777
rs387906777
Entrez Id: 3651
Gene Symbol: PDX1
PDX1
CUI: C0267963
Disease:
Exocrine pancreatic insufficiency 		0.010 GeneticVariation BEFREE In contrast to other reported PDX1 mutations leading to neonatal diabetes and pancreas agenesis, homozygosity for the E178G mutation was not associated with clinical signs of exocrine pancreas insufficiency. 20009086 2010