PDX1, pancreatic and duodenal homeobox 1, 3651

N. diseases: 185; N. variants: 22
Disease: DIABETES MELLITUS, PERMANENT NEONATAL ×
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: C1833104
Disease:
DIABETES MELLITUS, PERMANENT NEONATAL 		G 0.700 CausalMutation CLINVAR A novel hypomorphic PDX1 mutation responsible for permanent neonatal diabetes with subclinical exocrine deficiency. 20009086 2010
dbSNP: rs387906777
rs387906777
Entrez Id: 3651
Gene Symbol: PDX1
PDX1
CUI: C1833104
Disease:
DIABETES MELLITUS, PERMANENT NEONATAL 		G 0.700 CausalMutation CLINVAR Agenesis of human pancreas due to decreased half-life of insulin promoter factor 1. 12970316 2003