SLC1A1, solute carrier family 1 member 1, 6505

N. diseases: 53; N. variants: 4
Disease: Epilepsy ×
Source: CURATED ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.350 Biomarker disease CTD_human EAAC1 may participate in normal GABA neurosynthesis and limbic hyperexcitability, whereas epilepsy can result from a disruption of the interaction between EAAC1 and GABA metabolism. 12151515 2002