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: C1848137
Disease: EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder) 		0.720 GeneticVariation disease UNIPROT Spectrum of phenotypes in female patients with epilepsy due to protocadherin 19 mutations. 21480887 2011
CUI: C1848137
Disease: EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder) 		0.720 GeneticVariation disease BEFREE In conclusion, our results suggest that deletions at PCDH19 also cause EFMR. 22091964 2012
CUI: C1848137
Disease: EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder) 		0.720 GeneticVariation disease UNIPROT Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis. 26993267 2016
CUI: C1848137
Disease: EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder) 		0.720 GeneticVariation disease UNIPROT X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment. 18469813 2008
CUI: C1848137
Disease: EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder) 		0.720 GeneticVariation disease UNIPROT Mutations and deletions in PCDH19 account for various familial or isolated epilepsies in females. 21053371 2011
CUI: C1848137
Disease: EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder) 		0.720 GeneticVariation disease UNIPROT Protocadherin 19 mutations in girls with infantile-onset epilepsy. 20713952 2010
CUI: C1848137
Disease: EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder) 		0.720 GeneticVariation disease UNIPROT PCDH19-related infantile epileptic encephalopathy: an unusual X-linked inheritance disorder. 22267240 2012
CUI: C1848137
Disease: EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder) 		0.720 GeneticVariation disease UNIPROT Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation families. 19752159 2010
CUI: C1848137
Disease: EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder) 		0.720 GeneticVariation disease BEFREE In the present study, we describe a PCDH19 mutation segregating from an asymptomatic mother to an EFMR patient. 22949144 2012
CUI: C1848137
Disease: EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder) 		0.720 GeneticVariation disease UNIPROT Novel de novo PCDH19 mutations in three unrelated females with epilepsy female restricted mental retardation syndrome. 20830798 2010
CUI: C1848137
Disease: EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder) 		0.720 GeneticVariation disease UNIPROT Diagnostic yield of genetic testing in epileptic encephalopathy in childhood. 25818041 2015
CUI: C1848137
Disease: EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder) 		0.720 GeneticVariation disease UNIPROT Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females. 19214208 2009
CUI: C1848137
Disease: EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder) 		0.720 GeneticVariation disease CLINVAR Mutations and deletions in PCDH19 account for various familial or isolated epilepsies in females. 21053371 2011
CUI: C1848137
Disease: EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder) 		0.720 GeneticVariation disease UNIPROT Recurrence risk of epilepsy and mental retardation in females due to parental mosaicism of PCDH19 mutations. 21519002 2011
CUI: C1848137
Disease: EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder) 		0.720 GeneticVariation disease UNIPROT PCDH19 mutation in Japanese females with epilepsy. 22050978 2012
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.600 GeneticVariation disease BEFREE Mutation in the protocadherin 19 (PCDH19) gene is an increasingly recognized cause of epilepsy in females. 22504056 2012
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.600 GeneticVariation disease BEFREE Focal seizures with affective symptoms are a major feature of PCDH19 gene-related epilepsy. 22946748 2012
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.600 GeneticVariation disease BEFREE Other types of seizures were found in both epilepsies with a prevalence of GTCS and atypical absences in DS, and focal motor and hypomotor seizures in PCDH19-related epilepsy. 27371789 2016
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.600 GeneticVariation disease BEFREE To date, disease-causing mutations are established for PCDH19 in patients with epilepsy, cognitive impairment and/or autistic features. 22765916 2012
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.600 GeneticVariation disease BEFREE These results show that mutations in PCDH19 are a relatively frequent cause of epilepsy in females and should be considered even in absence of family history and/or mental retardation. 21053371 2011
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.600 GeneticVariation disease BEFREE It indicates that PCDH19 mutation testing should be performed in sporadic cases with no family history that still demonstrate well-established features of peculiar X-linked epilepsy with mental retardation limited to females. 22633638 2012
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.600 GeneticVariation disease BEFREE Despite being the second most prevalent monogeneic cause of epilepsy, little is known about the role of PCDH19 in brain development. 29763708 2018
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.600 GeneticVariation disease LHGDN PCDH19 is expressed in developing brains of human and mouse and is the first member of the cadherin superfamily to be directly implicated in epilepsy or mental retardation. 18469813 2008
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.600 GeneticVariation disease BEFREE Following recent descriptions of PCDH19 mutation in girls with epilepsy, we sequenced this gene in patients with infantile or early childhood seizures onset, either focal or generalized, without an obvious etiology. 21480887 2011
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.600 GeneticVariation disease BEFREE Eight females aged 5 to 17years old with PCDH-19 mutations and epilepsy were recruited. 27179713 2016