| Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.060 | GeneticVariation | disease | BEFREE | Next-generation sequencing reveals deep intronic cryptic ABCC8 and HADH splicing founder mutations causing hyperinsulinism by pseudoexon activation. | 23273570 | 2013 | ||||
|
0.060 | GeneticVariation | disease | BEFREE | These include the hyperinsulinism/hyperammonemia syndrome caused by dominant activating mutations of GLUD1 which interfere with inhibitory regulation by GTP and hyperinsulinism due to recessive deficiency of short-chain 3-hydroxy-acyl-CoA dehydrogenase (SCHAD, encoded by HADH1). | 21130127 | 2011 | ||||
|
0.060 | GeneticVariation | disease | BEFREE | Hyperinsulinemia associated with non-ketotic hypoglycemia is observed in patients with mutated β-oxidation enzyme short-chain 3-hydroxyacyl-CoA dehydrogenase (HADHSC). | 20923481 | 2010 | ||||
|
0.060 | GeneticVariation | disease | BEFREE | Autosomal recessive mutations in the HADHSC gene (encoding the enzyme short-chain L-3-hydroxyacyl-CoA dehydrogenase) have been linked to defects in fatty acid oxidation and hyperinsulinism. | 17986831 | 2007 | ||||
|
0.060 | GeneticVariation | disease | BEFREE | We report a case of a novel splice site mutation in the short-chain 3-hydroxyacyl-CoA dehydrogenase (SCHAD) gene associated with hyperinsulinism. | 15870679 | 2005 | ||||
|
0.060 | GeneticVariation | disease | BEFREE | In contrast to focal islet-cell hyperplasia, always sporadic to our knowledge, diffuse hyperinsulinism is a heterogeneous disorder involving several genes, various mechanisms of pathogenic mutations and different transmissions: (i) channelopathy involving the genes encoding the sulphonylurea receptor (SUR1) or the inward-rectifying potassium channel (Kir6.2) in recessively inherited HI or more rarely dominantly inherited HI; (ii) metabolic disorders implicating the short-chain L-3-hydroxyacyl-CoA dehydrogenase (SCHAD) enzyme inrecessively inherited HI, the glucokinase gene (GK), the glutamate dehydrogenase gene (GLUD1) when hyperammonemia is associated, dominant exercise-induced HI with still-unknown mechanism, and more recently the human insulin receptor gene in dominantly inherited hyperinsulinism. | 15868462 | 2005 |