SLC1A1, solute carrier family 1 member 1, 6505

N. diseases: 122; N. variants: 16
Disease: Immersion Related Epilepsy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0393729
Disease: Immersion Related Epilepsy
Immersion Related Epilepsy 		0.300 GermlineCausalMutation disease ORPHANET Rare SLC1A1 variants in hot water epilepsy. 28324217 2017