PLCB1, phospholipase C beta 1, 23236

N. diseases: 107; N. variants: 35
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0037769
Disease: West Syndrome
West Syndrome
0.410 GermlineCausalMutation disease ORPHANET Genes of early-onset epileptic encephalopathies: from genotype to phenotype. 22196487 2012
CUI: C0037769
Disease: West Syndrome
West Syndrome
0.410 GermlineCausalMutation disease ORPHANET Phospholipase C beta 1 deficiency is associated with early-onset epileptic encephalopathy. 20833646 2010
CUI: C0037769
Disease: West Syndrome
West Syndrome
0.410 GeneticVariation disease BEFREE In addition, a cohort of 12 consanguineous families of children with infantile spasms were analysed for linkage to the phospholipase C-β 1 gene locus. 20833646 2010
CUI: C0037769
Disease: West Syndrome
West Syndrome
0.410 Biomarker disease HPO