Source: CURATED ×
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2562
Gene Symbol: GABRB3
GABRB3 		0.600 Biomarker phenotype GENOMICS_ENGLAND De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies. 27476654 2016
Entrez Id: 2562
Gene Symbol: GABRB3
GABRB3 		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
Entrez Id: 2562
Gene Symbol: GABRB3
GABRB3 		0.600 GeneticVariation phenotype UNIPROT Hyperglycosylation and reduced GABA currents of mutated GABRB3 polypeptide in remitting childhood absence epilepsy. 18514161 2008