Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Autosomal dominant hyperinsulinism due to SUR1 deficiency
0.300 GermlineCausalMutation disease ORPHANET Molecular mechanisms of congenital hyperinsulinism. 25733449 2015
Autosomal dominant hyperinsulinism due to SUR1 deficiency
0.300 GermlineCausalMutation disease ORPHANET Dominantly inherited hyperinsulinism caused by a mutation in the sulfonylurea receptor type 1. 11018078 2000