Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 57526
Gene Symbol: PCDH19
PCDH19
CUI: C1848137
Disease: EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder) 		0.720 CausalMutation CLINVAR The clinical spectrum of female epilepsy patients with PCDH19 mutations in a Chinese population. 27527380

2017
Entrez Id: 57526
Gene Symbol: PCDH19
PCDH19
CUI: C1848137
Disease: EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder) 		0.720 CausalMutation CLINVAR PCDH19-related epilepsy in two mosaic male patients. 26765483

2016
Entrez Id: 57526
Gene Symbol: PCDH19
PCDH19
CUI: C1848137
Disease: EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder) 		0.720 CausalMutation CLINVAR [Genotype and phenotype of female Dravet syndrome with PCDH19 mutations]. 27143072

2016
Entrez Id: 57526
Gene Symbol: PCDH19
PCDH19
CUI: C1848137
Disease: EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder) 		0.720 CausalMutation CLINVAR Clinical and genetic aspects of PCDH19-related epilepsy syndromes and the possible role of PCDH19 mutations in males with autism spectrum disorders. 23334464

2013
Entrez Id: 57526
Gene Symbol: PCDH19
PCDH19
CUI: C1848137
Disease: EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder) 		0.720 CausalMutation CLINVAR Dravet syndrome: new potential genetic modifiers, imaging abnormalities, and ictal findings. 23808377

2013
Entrez Id: 57526
Gene Symbol: PCDH19
PCDH19
CUI: C1848137
Disease: EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder) 		0.720 CausalMutation CLINVAR Identification of SCN1A and PCDH19 mutations in Chinese children with Dravet syndrome. 22848613

2012
Entrez Id: 57526
Gene Symbol: PCDH19
PCDH19
CUI: C1848137
Disease: EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder) 		0.720 CausalMutation CLINVAR Focal seizures with affective symptoms are a major feature of PCDH19 gene-related epilepsy. 22946748

2012
Entrez Id: 57526
Gene Symbol: PCDH19
PCDH19
CUI: C1848137
Disease: EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder) 		0.720 CausalMutation CLINVAR PCDH19-related infantile epileptic encephalopathy: an unusual X-linked inheritance disorder. 22267240

2012
Entrez Id: 57526
Gene Symbol: PCDH19
PCDH19
CUI: C1848137
Disease: EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder) 		0.720 CausalMutation CLINVAR Mutations and deletions in PCDH19 account for various familial or isolated epilepsies in females. 21053371

2011
Entrez Id: 57526
Gene Symbol: PCDH19
PCDH19
CUI: C1848137
Disease: EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder) 		0.720 CausalMutation CLINVAR Spectrum of phenotypes in female patients with epilepsy due to protocadherin 19 mutations. 21480887

2011
Entrez Id: 57526
Gene Symbol: PCDH19
PCDH19
CUI: C1848137
Disease: EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder) 		0.720 GeneticVariation CLINVAR Mutations and deletions in PCDH19 account for various familial or isolated epilepsies in females. 21053371

2011
Entrez Id: 57526
Gene Symbol: PCDH19
PCDH19
CUI: C1848137
Disease: EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder) 		0.720 CausalMutation CLINVAR Protocadherin 19 mutations in girls with infantile-onset epilepsy. 20713952

2010
Entrez Id: 57526
Gene Symbol: PCDH19
PCDH19
CUI: C1848137
Disease: EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder) 		0.720 CausalMutation CLINVAR Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females. 19214208

2009
Entrez Id: 57526
Gene Symbol: PCDH19
PCDH19
CUI: C1848137
Disease: EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder) 		0.720 CausalMutation CLINVAR X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment. 18469813

2008
Entrez Id: 57526
Gene Symbol: PCDH19
PCDH19
CUI: C1848137
Disease: EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder) 		0.720 CausalMutation CLINVAR Cystic fibrosis prenatal diagnosis: confirmation of an equivocal microvillar enzyme result by direct analysis of the common gene mutation. 2267240

1990
Entrez Id: 57526
Gene Symbol: PCDH19
PCDH19
CUI: C0234533
Disease: Generalized seizures
Generalized seizures 		0.120 CausalMutation CLINVAR

Entrez Id: 57526
Gene Symbol: PCDH19
PCDH19
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.120 CausalMutation CLINVAR

Entrez Id: 57526
Gene Symbol: PCDH19
PCDH19
CUI: C0376532
Disease: Epilepsy, Rolandic
Epilepsy, Rolandic 		0.100 CausalMutation CLINVAR Exome-wide analysis of mutational burden in patients with typical and atypical Rolandic epilepsy. 29358611

2018
Entrez Id: 57526
Gene Symbol: PCDH19
PCDH19
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR Male patients affected by mosaic PCDH19 mutations: five new cases. 28669061

2017
Entrez Id: 57526
Gene Symbol: PCDH19
PCDH19
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR Somatic Mosaicism of PCDH19 in a male with early infantile epileptic encephalopathy and review of the literature. 28462982

2017
Entrez Id: 57526
Gene Symbol: PCDH19
PCDH19
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation CLINVAR Male patients affected by mosaic PCDH19 mutations: five new cases. 28669061

2017
Entrez Id: 57526
Gene Symbol: PCDH19
PCDH19
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation CLINVAR Somatic Mosaicism of PCDH19 in a male with early infantile epileptic encephalopathy and review of the literature. 28462982

2017
Entrez Id: 57526
Gene Symbol: PCDH19
PCDH19
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR PCDH19-related epileptic encephalopathy in a male mosaic for a truncating variant. 27016041

2016
Entrez Id: 57526
Gene Symbol: PCDH19
PCDH19
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR PCDH19-related epilepsy in two mosaic male patients. 26765483

2016
Entrez Id: 57526
Gene Symbol: PCDH19
PCDH19
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation CLINVAR PCDH19-related epileptic encephalopathy in a male mosaic for a truncating variant. 27016041

2016