SLC12A5, solute carrier family 12 member 5, 57468

N. diseases: 135; N. variants: 20
Disease: Status Epilepticus ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0038220
Disease: Status Epilepticus
Status Epilepticus 		0.430 Biomarker disease BEFREE <i>Kcc2<sup>E/E</sup></i> mice also displayed disrupted lumbar spinal neuron locomotor rhythmogenesis and touch-evoked status epilepticus associated with markedly impaired KCC2-dependent Cl<sup>-</sup> extrusion. 31615901 2019
CUI: C0038220
Disease: Status Epilepticus
Status Epilepticus 		0.430 AlteredExpression disease BEFREE The expression of KCC2 protein was elevated by the treatment of GCK after SE, while the expression of NKCC1 protein was reversely down-regulated. 30254585 2018
CUI: C0038220
Disease: Status Epilepticus
Status Epilepticus 		0.430 Biomarker disease BEFREE Tyrosine phosphorylation of KCC2 is thus likely to play a key role in regulating the degradation of KCC2, a process that may be responsible for pathological losses of KCC2 function that are evident in SE and other forms of epilepsy. 20600929 2010
CUI: C0038220
Disease: Status Epilepticus
Status Epilepticus 		0.430 Biomarker disease CTD_human Tyrosine phosphorylation of KCC2 is thus likely to play a key role in regulating the degradation of KCC2, a process that may be responsible for pathological losses of KCC2 function that are evident in SE and other forms of epilepsy. 20600929 2010
CUI: C0038220
Disease: Status Epilepticus
Status Epilepticus 		0.430 Biomarker disease HPO