PCDH19, protocadherin 19, 57526

N. diseases: 93; N. variants: 48
Disease: Congenital Abnormality ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.020 Biomarker group BEFREE Furthermore, we identify variable cortical malformations in PCDH19 epilepsy patients. 29301106 2018
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.020 GeneticVariation group BEFREE Focal cortical malformations in children with early infantile epilepsy and PCDH19 mutations: case report. 29064093 2018