ADORA2A, adenosine A2a receptor, 135

N. diseases: 213; N. variants: 10
Disease: Acute encephalopathy with biphasic seizures and late reduced diffusion ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4707658
Disease: Acute encephalopathy with biphasic seizures and late reduced diffusion
Acute encephalopathy with biphasic seizures and late reduced diffusion 		0.320 GeneticVariation disease BEFREE Genetically, 14 patients had at least one of the following polymorphisms or mutations associated with AESD: thermolabile variation of the carnitine palmitoyltransferase 2 (CPT2) gene, polymorphism causing high expression of the adenosine receptor A2A (ADORA2A) gene, and heterozygous missense mutation of the voltage gated sodium channel 1A (SCN1A) and 2A (SCN2A) gene. 25156649 2015
CUI: C4707658
Disease: Acute encephalopathy with biphasic seizures and late reduced diffusion
Acute encephalopathy with biphasic seizures and late reduced diffusion 		0.320 SusceptibilityMutation disease ORPHANET AA diplotype of ADORA2A is associated with AESD and may alter the intracellular adenosine/cAMP cascade, thereby promoting seizures and excitotoxic brain damage in patients. 23535492 2013
CUI: C4707658
Disease: Acute encephalopathy with biphasic seizures and late reduced diffusion
Acute encephalopathy with biphasic seizures and late reduced diffusion 		0.320 Biomarker disease BEFREE AA diplotype of ADORA2A is associated with AESD and may alter the intracellular adenosine/cAMP cascade, thereby promoting seizures and excitotoxic brain damage in patients. 23535492 2013