rs121909731, GLUD1

N. diseases: 7
Disease: Hyperammonemia ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Hyperammonemia
CUI: C0220994
Disease: Hyperammonemia
0.010 GeneticVariation BEFREE Identification of the molecular dysfunction caused by glutamate dehydrogenase S445L mutation responsible for hyperinsulinism/hyperammonemia. 28911206 2017