Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2562
Gene Symbol: GABRB3
GABRB3
0.340 GeneticVariation disease BEFREE Mutations in GABRB3 have been increasingly recognized as a major cause for severe paediatric epilepsy syndromes such as Lennox-Gastaut syndrome, Dravet syndrome and infantile spasms with intellectual disability as well as relatively mild epilepsy syndromes such as childhood absence epilepsy. 31435640 2019
Entrez Id: 2562
Gene Symbol: GABRB3
GABRB3
0.340 GeneticVariation disease BEFREE To screen a library of potential therapeutic compounds for a woman with Lennox-Gastaut syndrome due to a Y302C GABRB3 (c.905A>G) mutation. 31755996 2019
Entrez Id: 2562
Gene Symbol: GABRB3
GABRB3
0.340 GermlineCausalMutation disease ORPHANET De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies. 27476654 2016
Entrez Id: 2562
Gene Symbol: GABRB3
GABRB3
0.340 GeneticVariation disease BEFREE Recently, GABRB3 mutations have been identified in a few patients with infantile spasms and Lennox-Gastaut syndrome. 26645412 2016
Entrez Id: 2562
Gene Symbol: GABRB3
GABRB3
0.340 Biomarker disease BEFREE Recently, mutations of GABRA1, GABRB2, and GABRB3 were associated with infantile spasms and Lennox-Gastaut syndrome. 25194483 2014
Entrez Id: 2562
Gene Symbol: GABRB3
GABRB3
0.340 GermlineCausalMutation disease ORPHANET De novo mutations in epileptic encephalopathies. 23934111 2013