SLC12A5, solute carrier family 12 member 5, 57468

N. diseases: 135; N. variants: 20
Disease: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 14 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4225245
Disease: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 14
EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 14 		0.600 Biomarker phenotype GENOMICS_ENGLAND Impaired neuronal KCC2 function by biallelic SLC12A5 mutations in migrating focal seizures and severe developmental delay. 27436767 2016
CUI: C4225245
Disease: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 14
EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 14 		0.600 GeneticVariation phenotype UNIPROT Regulatory domain or CpG site variation in SLC12A5, encoding the chloride transporter KCC2, in human autism and schizophrenia. 26528127 2015
CUI: C4225245
Disease: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 14
EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 14 		0.600 GeneticVariation phenotype UNIPROT Genetically encoded impairment of neuronal KCC2 cotransporter function in human idiopathic generalized epilepsy. 24928908 2014
CUI: C4225245
Disease: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 14
EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 14 		0.600 GeneticVariation phenotype UNIPROT A variant of KCC2 from patients with febrile seizures impairs neuronal Cl- extrusion and dendritic spine formation. 24668262 2014
CUI: C4225245
Disease: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 14
EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 14 		0.600 SusceptibilityMutation phenotype CLINVAR