Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0158981
Disease: Neonatal diabetes mellitus
Neonatal diabetes mellitus
0.320 GeneticVariation disease BEFREE Recently, PTF1A enhancer mutations have been shown to cause neonatal diabetes associated with pancreatic agenesis. 26184423 2015
CUI: C0158981
Disease: Neonatal diabetes mellitus
Neonatal diabetes mellitus
0.320 GeneticVariation disease BEFREE In permanent neonatal diabetes (PNDM) patients, homozygous GCK (n=6), EIF2AK3 (n=3), PTF1A (n=3), and INS (n=1) and heterozygous KCNJ11 (n=2) mutations were identified. 25755231 2015
CUI: C0158981
Disease: Neonatal diabetes mellitus
Neonatal diabetes mellitus
0.320 Biomarker disease GENOMICS_ENGLAND