Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
DIABETES MELLITUS, PERMANENT NEONATAL
0.610 GeneticVariation disease BEFREE PDX1 Gene Mutation with Permanent Neonatal Diabetes Mellitus with Annular Pancreas, Duodenal Atresia, Hypoplastic Gall Bladder and Exocrine Pancreatic Insufficiency. 29317564 2017
DIABETES MELLITUS, PERMANENT NEONATAL
0.610 GermlineCausalMutation disease ORPHANET The lessons of early-onset monogenic diabetes for the understanding of diabetes pathogenesis. 22498247 2012
DIABETES MELLITUS, PERMANENT NEONATAL
0.610 CausalMutation disease CLINVAR A novel hypomorphic PDX1 mutation responsible for permanent neonatal diabetes with subclinical exocrine deficiency. 20009086 2010
DIABETES MELLITUS, PERMANENT NEONATAL
0.610 CausalMutation disease CLINVAR Agenesis of human pancreas due to decreased half-life of insulin promoter factor 1. 12970316 2003
DIABETES MELLITUS, PERMANENT NEONATAL
0.610 Biomarker disease CTD_human