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: C0009952
Disease: Febrile Convulsions
Febrile Convulsions
0.110 GeneticVariation disease BEFREE Direct sequencing of PCDH19 gene was conducted in 31 unrelated female patients with early onset (<1 year of age) epilepsy and a wide spectrum of phenotypes including febrile seizures, focal and generalized forms, with either sporadic or familial distribution. 25218114 2015
CUI: C0009952
Disease: Febrile Convulsions
Febrile Convulsions
0.110 Biomarker disease HPO