rs80356624, KCNJ11

N. diseases: 16
Disease: Neonatal diabetes mellitus ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Neonatal diabetes mellitus
CUI: C0158981
Disease: Neonatal diabetes mellitus
0.030 GeneticVariation BEFREE Sulfonylurea treatment in a girl with neonatal diabetes (KCNJ11 R201H) and celiac disease: impact of low compliance to the gluten free diet. 19345438 2009
Neonatal diabetes mellitus
CUI: C0158981
Disease: Neonatal diabetes mellitus
0.030 GeneticVariation BEFREE We identified KCNJ11 mutations in four of 10 probands with permanent neonatal diabetes and one affected parent; this included the novel C166F mutation and the previously described V59M and R201H. 16670688 2006
Neonatal diabetes mellitus
CUI: C0158981
Disease: Neonatal diabetes mellitus
0.030 GeneticVariation BEFREE This is consistent with the ability of the R201H mutation to cause neonatal diabetes in patients. 17065345 2006