Gene: PLCB1 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 23236
Gene Symbol: PLCB1
PLCB1 		0.130 Biomarker disease BEFREE This report emphasizes the role of PLCB1 haploinsufficiency in severe EE. 26818157 2016
Entrez Id: 23236
Gene Symbol: PLCB1
PLCB1 		0.130 GeneticVariation disease BEFREE Severe infantile epileptic encephalopathy due to mutations in PLCB1: expansion of the genotypic and phenotypic disease spectrum. 24684524 2014
Entrez Id: 23236
Gene Symbol: PLCB1
PLCB1 		0.130 GeneticVariation disease BEFREE We report the clinical presentation and evolution of epileptic encephalopathy in a patient, associated with a loss-of-function mutation in the phospholipase C-β 1 gene. 20833646 2010
Entrez Id: 23236
Gene Symbol: PLCB1
PLCB1 		0.130 Biomarker disease HPO