Gene: GABRA5 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2558
Gene Symbol: GABRA5
GABRA5 		0.310 Biomarker phenotype GENOMICS_ENGLAND Altered inhibitory synapses in de novo GABRA5 and GABRA1 mutations associated with early onset epileptic encephalopathies. 31056671 2019
Entrez Id: 2558
Gene Symbol: GABRA5
GABRA5 		0.310 GeneticVariation phenotype BEFREE Using whole-genome sequencing, we identified a novel de novo missense variant in GABRA5 (c.880G > C, p.V294L) in a patient with severe early-onset epilepsy and developmental delay. 29961870 2018