Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0266267
Disease: Congenital hypoplasia of pancreas
Congenital hypoplasia of pancreas
0.110 GeneticVariation disease BEFREE The aim of our study was to investigate the possibility of hypomorphic PDX1 mutations in a large cohort of patients with permanent neonatal diabetes and no reported pancreatic hypoplasia or exocrine insufficiency. 23320570 2013
CUI: C0266267
Disease: Congenital hypoplasia of pancreas
Congenital hypoplasia of pancreas
0.110 Biomarker disease HPO