Disease: Hyperinsulinism ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137852671
rs137852671
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8
CUI: C0020459
Disease:
Hyperinsulinism 		0.020 GeneticVariation BEFREE Conversely, no E1506K currents were recorded at rest or after metabolic inhibition, as expected for a mutation causing hyperinsulinemia. 21617188 2011
dbSNP: rs137852671
rs137852671
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8
CUI: C0020459
Disease:
Hyperinsulinism 		0.020 GeneticVariation BEFREE We have described a dominant heterozygous mutation--E1506K--in the sulfonylurea receptor 1 (SUR1) gene (ABCC8) in a Finnish family, which leads to congenital hyperinsulinaemia due to reduction of K(ATP)-channel activity. 12559865 2003
dbSNP: rs146695489
rs146695489
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8
CUI: C0020459
Disease:
Hyperinsulinism 		0.010 GeneticVariation BEFREE Octreotide-induced long QT syndrome in a child with congenital hyperinsulinemia and a novel missense mutation (p.Met115Val) in the ABCC8 gene. 24080777 2013