SLC12A5, solute carrier family 12 member 5, 57468

N. diseases: 135; N. variants: 20
Disease: Idiopathic generalized epilepsy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0270850
Disease: Idiopathic generalized epilepsy
Idiopathic generalized epilepsy 		0.310 Biomarker disease BEFREE These data describe a novel KCC2 variant significantly associated with a human disease and suggest genetically encoded impairment of KCC2 functional regulation may be a risk factor for the development of human IGE. 24928908 2014
CUI: C0270850
Disease: Idiopathic generalized epilepsy
Idiopathic generalized epilepsy 		0.310 Biomarker disease CTD_human