Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2746
Gene Symbol: GLUD1
GLUD1
0.020 GeneticVariation disease BEFREE The hyperinsulinism-hyperammonemia syndrome (HHS) has been shown to result from dominant germ line mutations within the glutamate dehydrogenase gene (GLUD1, OMIM *138130). 14967154 2004
Entrez Id: 2746
Gene Symbol: GLUD1
GLUD1
0.020 GeneticVariation disease BEFREE The hyperinsulinism-hyperammonemia syndrome (HHS) has been shown to result from 'gain-of-function' mutations of the glutamate dehydrogenase (GlDH) gene, GLUD1. 11214910 2001