Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 5
0.400 GeneticVariation phenotype CLINVAR Molecular diagnostic experience of whole-exome sequencing in adult patients. 26633545 2017
EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 5
0.400 GeneticVariation phenotype CLINVAR Clinical whole-exome sequencing for the diagnosis of mendelian disorders. 24088041 2013
EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 5
0.400 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
0.400 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
0.400 SusceptibilityMutation phenotype CLINVAR Hyperglycosylation and reduced GABA currents of mutated GABRB3 polypeptide in remitting childhood absence epilepsy. 18514161 2008