Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0037769
Disease: West Syndrome
West Syndrome
0.030 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
CUI: C0037769
Disease: West Syndrome
West Syndrome
0.030 GeneticVariation disease BEFREE Recently, GABRB3 mutations have been identified in a few patients with infantile spasms and Lennox-Gastaut syndrome. 26645412 2016
CUI: C0037769
Disease: West Syndrome
West Syndrome
0.030 Biomarker disease BEFREE Recently, mutations of GABRA1, GABRB2, and GABRB3 were associated with infantile spasms and Lennox-Gastaut syndrome. 25194483 2014