Gene: SLC2A1 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1 		0.030 GeneticVariation disease BEFREE A pathogenic de novo SLC2A1 mutation (p.Gly18Arg) was found in the atypical patient with overlapping symptoms of AHC and hemiplegic migraine. 24824604 2015
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1 		0.030 GeneticVariation disease BEFREE Because the contribution of the SLC2A1 mutation to the clinical phenotype cannot be definitely demonstrated, the remarkable clinical response after ketogenic diet led us to the hypothesis that ketogenic diet might be effective in AHC as it provides an alternative energy source for the brain. 24491413 2014
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1 		0.030 GeneticVariation disease BEFREE We have studied a cohort of 23 patients to investigate whether patients with classical AHC harbor SLC2A1 mutations. 21445818 2010