SLC12A5, solute carrier family 12 member 5, 57468

N. diseases: 135; N. variants: 20
Disease: Mental disorders ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0004936
Disease: Mental disorders
Mental disorders 		0.020 AlteredExpression group BEFREE KCC2 downregulation is observed in numerous neurological and psychiatric disorders. 31269453 2019
CUI: C0004936
Disease: Mental disorders
Mental disorders 		0.020 Biomarker group BEFREE Thus, any variant in SLC12A5, if it causes dysfunction of KCC2, could be pathogenic for neurological and psychiatric disorders by disrupting inhibition and causing collapse of the excitation-inhibition balance. 30576625 2019