Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 5
0.600 SusceptibilityMutation phenotype CLINVAR
EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 5
0.600 GeneticVariation phenotype UNIPROT Hyperglycosylation and reduced GABA currents of mutated GABRB3 polypeptide in remitting childhood absence epilepsy. 18514161 2008
EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 5
0.600 GeneticVariation phenotype UNIPROT GABRB3 mutation, G32R, associated with childhood absence epilepsy alters α1β3γ2L γ-aminobutyric acid type A (GABAA) receptor expression and channel gating. 22303015 2012
EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 5
0.600 GeneticVariation phenotype CLINVAR Molecular diagnostic experience of whole-exome sequencing in adult patients. 26633545 2016
EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 5
0.600 Biomarker phenotype GENOMICS_ENGLAND De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies. 27476654 2016
EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 5
0.600 CausalMutation phenotype CLINVAR A mutation in GABRB3 associated with Dravet syndrome. 28544625 2017
EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 5
0.600 CausalMutation phenotype CLINVAR Mutations in GABRB3: From febrile seizures to epileptic encephalopathies. 28053010 2017