Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
DIABETES MELLITUS, PERMANENT NEONATAL
CUI: C1833104
Disease: DIABETES MELLITUS, PERMANENT NEONATAL
0.800 GeneticVariation UNIPROT Insulin mutation screening in 1,044 patients with diabetes: mutations in the INS gene are a common cause of neonatal diabetes but a rare cause of diabetes diagnosed in childhood or adulthood. 18162506 2008
DIABETES MELLITUS, PERMANENT NEONATAL
CUI: C1833104
Disease: DIABETES MELLITUS, PERMANENT NEONATAL
0.800 GeneticVariation UNIPROT Insulin gene mutations as a cause of permanent neonatal diabetes. 17855560 2007
DIABETES MELLITUS, PERMANENT NEONATAL
CUI: C1833104
Disease: DIABETES MELLITUS, PERMANENT NEONATAL
0.800 CausalMutation CLINVAR
Neonatal diabetes mellitus
CUI: C0158981
Disease: Neonatal diabetes mellitus
0.010 GeneticVariation BEFREE Permanent neonatal diabetes in siblings with novel C109Y INS mutation transmitted by an unaffected parent with somatic mosaicism. 24279684 2014