SLC1A3, solute carrier family 1 member 3, 6507

N. diseases: 109; N. variants: 7
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0018681
Disease: Headache
Headache
0.010 GeneticVariation phenotype BEFREE Recently, a missense mutation was found in the SLC1A3 gene that encodes the glutamate transporter EAAT1, in a patient with alternating hemiplegia, episodic ataxia, seizures, and headache. 17236110 2006