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: C0234533
Disease: Generalized seizures
Generalized seizures
0.120 GeneticVariation disease BEFREE We described three variations in the PCDH19 gene in Chinese patients with epilepsy who developed generalized seizures occurring in clusters with or without triggering by fever. 29866057 2018
CUI: C0234533
Disease: Generalized seizures
Generalized seizures
0.120 GeneticVariation disease BEFREE PCDH19 gene mutations have been recently associated with an epileptic syndrome characterized by focal and generalized seizures. 26765483 2016
CUI: C0234533
Disease: Generalized seizures
Generalized seizures
0.120 CausalMutation disease CLINVAR