Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2562
Gene Symbol: GABRB3
GABRB3
0.390 GeneticVariation disease BEFREE To validate our findings further, we obtained an in-depth comparison of two novel mutations [GABRB3 (N328D) and GABRB3 (E357K)] associated with epilepsy with different severities of epilepsy phenotype. 31435640 2019
Entrez Id: 2562
Gene Symbol: GABRB3
GABRB3
0.390 GeneticVariation disease BEFREE Vinpocetine has potential efficacy in treating patients with this mutation and possibly other GABRB3 mutations or other forms of epilepsy. 31755996 2019
Entrez Id: 2562
Gene Symbol: GABRB3
GABRB3
0.390 Biomarker disease CTD_human De novo variants in neurodevelopmental disorders with epilepsy. 29942082 2018
Entrez Id: 2562
Gene Symbol: GABRB3
GABRB3
0.390 GeneticVariation disease BEFREE Patients with the GABRA2 and GABRB3 variants also presented with severe epilepsy and developmental delay. 29961870 2018
Entrez Id: 2562
Gene Symbol: GABRB3
GABRB3
0.390 GeneticVariation disease BEFREE Our results indicate that GABRB3 mutations are associated with a broad phenotypic spectrum of epilepsies and that reduced receptor function causing GABAergic disinhibition represents the relevant disease mechanism. 28053010 2017
Entrez Id: 2562
Gene Symbol: GABRB3
GABRB3
0.390 Biomarker disease BEFREE GABRB3 is an emerging cause of early-onset epilepsy. 26645412 2016
Entrez Id: 2562
Gene Symbol: GABRB3
GABRB3
0.390 GeneticVariation disease BEFREE Mutations in GABRB3 have frequently been associated with epilepsy and autism, consistent with its role in neurodevelopment. 28009282 2016
Entrez Id: 2562
Gene Symbol: GABRB3
GABRB3
0.390 GeneticVariation disease BEFREE One 15q11-q13 locus encodes the GABA(A) receptor β3 subunit gene (GABRB3), which has been implicated by several studies in both autism and absence epilepsy, and the co-morbidity of epilepsy in autism is well established. 19935738 2011
Entrez Id: 2562
Gene Symbol: GABRB3
GABRB3
0.390 Biomarker disease CTD_human GABAA receptor beta3 subunit gene-deficient heterozygous mice show parent-of-origin and gender-related differences in beta3 subunit levels, EEG, and behavior. 15878204 2005
Entrez Id: 2562
Gene Symbol: GABRB3
GABRB3
0.390 Biomarker disease BEFREE These gabrb3 gene knockout mice provide direct evidence that a reduction of a specific subunit of the GABA(A) receptor system can result in epilepsy and support a GABAergic role in the pathophysiology of Angelman syndrome. 10515160 1999
Entrez Id: 2562
Gene Symbol: GABRB3
GABRB3
0.390 Biomarker disease BEFREE Involvement of other genes in the chromosome 15q11-13 deletion, such as GABRB3, may explain severe epilepsy in AS. 9546330 1998