Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
0.150 Biomarker disease BEFREE Cleft Palate as Distinguishing Feature in a Patient with GABRB3 Epileptic Encephalopathy. 31319422 2019
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
0.150 GeneticVariation disease BEFREE GABA <sub>A</sub> Receptor Coupling Junction and Pore GABRB3 Mutations are Linked to Early-Onset Epileptic Encephalopathy. 29162865 2017
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
0.150 GeneticVariation disease BEFREE Early onset epileptic encephalopathy with a novel GABRB3 mutation treated effectively with clonazepam: A case report. 29390378 2017
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
0.150 GeneticVariation disease BEFREE We report the clinical and electrographic features of a novel case of GABRB3-related early-onset epileptic encephalopathy. 26645412 2016
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
0.150 GeneticVariation disease BEFREE Among these are GABRB3, with de novo mutations in four patients, and ALG13, with the same de novo mutation in two patients; both genes show clear statistical evidence of association with epileptic encephalopathy. 23934111 2013
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
0.150 Biomarker disease HPO
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
0.150 GeneticVariation disease CLINVAR