PCDH19, protocadherin 19, 57526

N. diseases: 93; N. variants: 48
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
0.030 Biomarker disease BEFREE PCDH19-Girls Clustering Epilepsy (PCDH19-GCE) is a childhood epileptic encephalopathy characterised by a spectrum of neurodevelopmental problems. 29763708 2018
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
0.030 Biomarker disease BEFREE PCDH19-related epileptic encephalopathy in a male mosaic for a truncating variant. 27016041 2016
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
0.030 GeneticVariation disease BEFREE Recently, mutations in PCDH19, mostly occurring de novo, were shown to be a frequent cause of sporadic infantile-onset epileptic encephalopathy in females. 22267240 2012