Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2746
Gene Symbol: GLUD1
GLUD1
0.030 GeneticVariation phenotype BEFREE GLUD1 and HADH genes were analyzed in a patient with leucine sensitivity. 23652837 2013
Entrez Id: 2746
Gene Symbol: GLUD1
GLUD1
0.030 GeneticVariation phenotype BEFREE Mutations in GLUD1 encoding glutamate dehydrogenase, also cause protein sensitive HH (due to leucine sensitivity). 22583614 2012
Entrez Id: 2746
Gene Symbol: GLUD1
GLUD1
0.030 GeneticVariation phenotype BEFREE Patients and methods Twenty patients with HI from 16 families had mutational analysis of the GLUD1 gene in view of HA (n=19) or leucine sensitivity (n=1). 19690084 2009
Entrez Id: 3033
Gene Symbol: HADH
HADH
0.010 GeneticVariation phenotype BEFREE GLUD1 and HADH genes were analyzed in a patient with leucine sensitivity. 23652837 2013