Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.030 GeneticVariation disease BEFREE Patients with the GABRA2 and GABRB3 variants also presented with severe epilepsy and developmental delay. 29961870 2018
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.030 Biomarker disease BEFREE GABRA2-a known genetic marker for alcohol use disorder and epilepsy-significantly affected beta power, consistent with the known relation between GABA<sub>A</sub> interneuron activity and beta oscillations. 29947131 2018
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.030 Biomarker disease BEFREE We conclude that altered expression levels of known epileptic risk factors such as Na<sub>v</sub>1.1, Na<sub>v</sub>1.2, Na<sub>v</sub>1.6 and GABRA2 result in enhanced seizure susceptibility and manifestation of epilepsy in the hippocampus. 29046322 2017