Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0036572
Disease: Seizures
Seizures
0.130 Biomarker phenotype BEFREE The remarkable efficacy of clonazepam in the control of seizures indicated a potential GABRB3- or GABA-related mechanism involved in the development of EOEE. 29390378 2017
CUI: C0036572
Disease: Seizures
Seizures
0.130 AlteredExpression phenotype BEFREE Paradoxical worsening of seizure activity with pregabalin in an adult with isodicentric 15 (IDIC-15) syndrome involving duplications of the GABRB3, GABRA5 and GABRG3 genes. 23663378 2013
CUI: C0036572
Disease: Seizures
Seizures
0.130 Biomarker phenotype BEFREE Gene disruptions of either GAD67 or gabrg2 result in neonatal lethality, while others, GAD65, TNAP, and gabrb3 exhibit increased mortality and spontaneous seizures. 10515160 1999
CUI: C0036572
Disease: Seizures
Seizures
0.130 Biomarker phenotype HPO