SLC12A5, solute carrier family 12 member 5, 57468

N. diseases: 135; N. variants: 20
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 34 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4225257
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 34
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 34 		0.700 Biomarker disease GENOMICS_ENGLAND Impaired neuronal KCC2 function by biallelic SLC12A5 mutations in migrating focal seizures and severe developmental delay. 27436767 2016
CUI: C4225257
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 34
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 34 		0.700 GeneticVariation disease UNIPROT Mutations in SLC12A5 in epilepsy of infancy with migrating focal seizures. 26333769 2015
CUI: C4225257
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 34
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 34 		0.700 Biomarker disease CTD_human
CUI: C4225257
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 34
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 34 		0.700 CausalMutation disease CLINVAR
CUI: C4225257
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 34
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 34 		0.700 GeneticVariation disease CLINVAR