SLC12A5, solute carrier family 12 member 5, 57468

N. diseases: 135; N. variants: 20
Disease: Seizures, Focal ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0751495
Disease: Seizures, Focal
Seizures, Focal 		0.310 GeneticVariation phenotype BEFREE Impaired neuronal KCC2 function by biallelic SLC12A5 mutations in migrating focal seizures and severe developmental delay. 27436767 2016
CUI: C0751495
Disease: Seizures, Focal
Seizures, Focal 		0.310 Biomarker phenotype CTD_human A thallium transport FLIPR-based assay for the identification of KCC2-positive modulators. 20086212 2010