rs80356616, KCNJ11

N. diseases: 19
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
0.020 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
0.020 GeneticVariation BEFREE We report the response to sulfonylurea treatment in a boy with neonatal diabetes and marked developmental delay resulting from the KCNJ11 mutation V59M. 17047922 2006