NEUROG3, neurogenin 3, 50674

N. diseases: 49; N. variants: 8
Disease: Neonatal diabetes mellitus ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0158981
Disease: Neonatal diabetes mellitus
Neonatal diabetes mellitus 		0.330 GeneticVariation disease BEFREE A novel NEUROG3 mutation in neonatal diabetes associated with a neuro-intestinal syndrome. 28940958 2018
CUI: C0158981
Disease: Neonatal diabetes mellitus
Neonatal diabetes mellitus 		0.330 GeneticVariation disease BEFREE We hypothesized that null mutations in NEUROG3 might be responsible for the disease in a patient with permanent neonatal diabetes and severe congenital malabsorptive diarrhea. 21378176 2011
CUI: C0158981
Disease: Neonatal diabetes mellitus
Neonatal diabetes mellitus 		0.330 GeneticVariation disease BEFREE This report describes a newly identified nonsense mutation in human NEUROG3 that in the homozygous state is associated with neonatal diabetes and malabsorptive diarrhea. 21490072 2011
CUI: C0158981
Disease: Neonatal diabetes mellitus
Neonatal diabetes mellitus 		0.330 Biomarker disease GENOMICS_ENGLAND