ADK, adenosine kinase, 132

N. diseases: 102; N. variants: 12
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0036572
Disease: Seizures
Seizures
0.180 AlteredExpression phenotype BEFREE The seizure controlling activity of human adenosine kinase (AK) has been identified as a promising target for the development of small-molecule inhibitors to be used as potential anti-epileptic agents. 31779529 2019
CUI: C0036572
Disease: Seizures
Seizures
0.180 AlteredExpression phenotype BEFREE These results suggest that over-expression of ADK is a common pathologic hallmark of RE, and that upregulation of neuronal A1R in RE is crucial in preventing the spread of seizures. 28789481 2017
CUI: C0036572
Disease: Seizures
Seizures
0.180 Biomarker phenotype BEFREE The role of adenosine in seizure inhibition has been confirmed by results demonstrating that in patients with epilepsy, the adenosine kinase (ADK) present in astrocytes is the only purine-metabolizing enzyme that exhibits increased expression. 27915186 2017
CUI: C0036572
Disease: Seizures
Seizures
0.180 GeneticVariation phenotype BEFREE Genetic variation in ADK and NT5E may help explain variability in time to first seizure and PTE risk, independent of previously identified risk factors, after TBI. 26040919 2015
CUI: C0036572
Disease: Seizures
Seizures
0.180 AlteredExpression phenotype BEFREE Astrogliosis in turn is associated with overexpression of ADK, which was shown to be sufficient to trigger spontaneous recurrent electrographic seizures. 22700220 2012
CUI: C0036572
Disease: Seizures
Seizures
0.180 Biomarker phenotype BEFREE This is the first study to use an antisense approach to validate ADK as a rational therapeutic target for the treatment of epilepsy and suggests that gene therapies based on the knock down of ADK might be a feasible approach to control seizures in refractory epilepsy. 21275977 2011
CUI: C0036572
Disease: Seizures
Seizures
0.180 Biomarker phenotype BEFREE (ii) Transgenic mice overexpressing ADK display increased sensitivity to brain injury and seizures. 18249058 2008
CUI: C0036572
Disease: Seizures
Seizures
0.180 Biomarker phenotype BEFREE While mice with control implants expressing a scrambled miRNA sequence or sham treated control animals were characterized by KA-induced status epilepticus and subsequent CA3 neuronal cell loss, animals with therapeutic ADK knockdown implants displayed a 35% reduction in seizure duration and 65% reduction in CA3 neuronal cell loss, when analyzed 24 h after KA-injection. 17716659 2007
CUI: C0036572
Disease: Seizures
Seizures
0.180 CausalMutation phenotype CLINVAR
CUI: C0036572
Disease: Seizures
Seizures
0.180 Biomarker phenotype HPO