Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4316903
Disease: Absence Seizures
Absence Seizures
0.110 GeneticVariation phenotype BEFREE Mutations in GABRA1, GABRG2, and GABRB3 are associated with absence seizures, while mutations in CLCN2 and myoclonin/EFHC1 substantiate juvenile myoclonic epilepsy as a clinical entity. 16302874 2005
CUI: C4316903
Disease: Absence Seizures
Absence Seizures
0.110 Biomarker phenotype HPO