Gene: GABRA1 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2554
Gene Symbol: GABRA1
GABRA1 		0.410 GeneticVariation disease BEFREE We conclude that the GABRA1 (R214C) variant reduces channel activity and surface expression of mutant receptors, thereby contributing to the pathogenesis of genetic EE. 31707987 2019
Entrez Id: 2554
Gene Symbol: GABRA1
GABRA1 		0.410 Biomarker disease GENOMICS_ENGLAND De novo mutations in epileptic encephalopathies. 23934111 2013
Entrez Id: 2554
Gene Symbol: GABRA1
GABRA1 		0.410 CausalMutation disease CLINVAR
Entrez Id: 2554
Gene Symbol: GABRA1
GABRA1 		0.410 Biomarker disease HPO