SLC16A1, solute carrier family 16 member 1, 6566

N. diseases: 195; N. variants: 15
Disease: Congenital Hyperinsulinism ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3888018
Disease: Congenital Hyperinsulinism
Congenital Hyperinsulinism 		0.130 Biomarker disease BEFREE Mutations in eight genes (ABCC8, KCNJ11, GLUD1, GCK, HADH, SLC16A1, HNF4A and HNF1A) are known to cause CHI. 23345197 2013
CUI: C3888018
Disease: Congenital Hyperinsulinism
Congenital Hyperinsulinism 		0.130 Biomarker disease BEFREE Diazoxide is the first-line drug for the rare forms of CHI for long-term treatment but is not entirely effective in some of these rarer defects (GCK, MCT1). 21186003 2011
CUI: C3888018
Disease: Congenital Hyperinsulinism
Congenital Hyperinsulinism 		0.130 AlteredExpression disease BEFREE Congenital hyperinsulinism is associated with mutations of SUR-1 and Kir6.2, glucokinase, glutamate dehydrogenase, short-chain 3-hydroxyacyl-CoA dehydrogenase, and ectopic expression on beta-cell plasma membrane of SLC16A1. 18156285 2008
CUI: C3888018
Disease: Congenital Hyperinsulinism
Congenital Hyperinsulinism 		0.130 Biomarker disease HPO