SLC12A5, solute carrier family 12 member 5, 57468

N. diseases: 135; N. variants: 20
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 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
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.600 Biomarker disease MGD
CUI: C4225245
Disease: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 14
EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 14 		0.600 SusceptibilityMutation phenotype CLINVAR
CUI: C0038220
Disease: Status Epilepticus
Status Epilepticus 		0.430 Biomarker disease HPO
CUI: C0494475
Disease: Tonic - clonic seizures
Tonic - clonic seizures 		0.400 Biomarker disease HPO
CUI: C4316903
Disease: Absence Seizures
Absence Seizures 		0.400 Biomarker phenotype HPO
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.320 GeneticVariation disease UNIPROT
CUI: C0270850
Disease: Idiopathic generalized epilepsy
Idiopathic generalized epilepsy 		0.310 Biomarker disease CTD_human
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.110 Biomarker disease HPO
CUI: C0013132
Disease: Drooling
Drooling 		0.100 Biomarker phenotype HPO
CUI: C0037036
Disease: Sialorrhea
Sialorrhea 		0.100 Biomarker disease HPO
CUI: C0234132
Disease: Pyramidal sign
Pyramidal sign 		0.100 Biomarker phenotype HPO
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy 		0.100 Biomarker disease HPO
CUI: C0877017
Disease: Generalized tonic-clonic seizures with focal onset
Generalized tonic-clonic seizures with focal onset 		0.100 Biomarker disease HPO
CUI: C1836830
Disease: Developmental regression
Developmental regression 		0.100 Biomarker disease HPO
CUI: C1846620
Disease: Hemiclonic seizures
Hemiclonic seizures 		0.100 Biomarker phenotype HPO
CUI: C1847514
Disease: Postnatal microcephaly
Postnatal microcephaly 		0.100 Biomarker phenotype HPO
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.100 Biomarker group HPO
CUI: C4021758
Disease: Delayed CNS myelination
Delayed CNS myelination 		0.100 Biomarker disease HPO
CUI: C4021759
Disease: Generalized myoclonic seizures
Generalized myoclonic seizures 		0.100 Biomarker disease HPO
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.600 Biomarker disease CTD_human Hyperexcitability and epilepsy associated with disruption of the mouse neuronal-specific K-Cl cotransporter gene. 12000122 2002
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.600 Biomarker disease BEFREE Targeted deletion of the neuronal-specific K-Cl cotransporter KCC2 generates mice with a profound seizure disorder and confirms the central role of this transporter in modulating neuronal excitability. 11826289 2002
CUI: C0086237
Disease: Epilepsy, Cryptogenic
Epilepsy, Cryptogenic 		0.300 Biomarker disease CTD_human Hyperexcitability and epilepsy associated with disruption of the mouse neuronal-specific K-Cl cotransporter gene. 12000122 2002