rs137852671, ABCC8

N. diseases: 10
Disease: Diabetes ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Diabetes
CUI: C0011847
Disease: Diabetes
0.030 GeneticVariation BEFREE Dominantly inherited mutations cause less severe disease, which may progress to glucose intolerance and diabetes in later life (e.g., SUR1-E1506K). 23903354 2013
Diabetes
CUI: C0011847
Disease: Diabetes
0.030 GeneticVariation BEFREE Our data corroborate the hypothesis that the dominant E1506K ABCC8 mutation, responsible for CHI, predisposes to the development of glucose intolerance and diabetes later in life. 20042013 2010
Diabetes
CUI: C0011847
Disease: Diabetes
0.030 GeneticVariation BEFREE Heterozygous E1506K substitution in the SUR1 gene causes congenital hyperinsulinism in infancy, loss of insulin secretory capacity in early adulthood, and diabetes in middle-age. 12559865 2003