PCDH19, protocadherin 19, 57526

N. diseases: 93; N. variants: 48
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs132630323
rs132630323
Entrez Id: 57526
Gene Symbol: PCDH19
PCDH19
CUI: C1848137
Disease:
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder) 		0.800 GeneticVariation UNIPROT
dbSNP: rs201989363
rs201989363
Entrez Id: 57526
Gene Symbol: PCDH19
PCDH19
CUI: C1848137
Disease:
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder) 		0.800 GeneticVariation UNIPROT PCDH19-related infantile epileptic encephalopathy: an unusual X-linked inheritance disorder. 22267240 2012
dbSNP: rs201989363
rs201989363
Entrez Id: 57526
Gene Symbol: PCDH19
PCDH19
CUI: C1848137
Disease:
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder) 		0.800 GeneticVariation UNIPROT Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females. 19214208 2009
dbSNP: rs201989363
rs201989363
Entrez Id: 57526
Gene Symbol: PCDH19
PCDH19
CUI: C1848137
Disease:
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder) 		0.800 GeneticVariation UNIPROT Novel de novo PCDH19 mutations in three unrelated females with epilepsy female restricted mental retardation syndrome. 20830798 2010
dbSNP: rs201989363
rs201989363
Entrez Id: 57526
Gene Symbol: PCDH19
PCDH19
CUI: C1848137
Disease:
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder) 		0.800 GeneticVariation UNIPROT Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis. 26993267 2016
dbSNP: rs201989363
rs201989363
Entrez Id: 57526
Gene Symbol: PCDH19
PCDH19
CUI: C1848137
Disease:
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder) 		0.800 GeneticVariation UNIPROT Spectrum of phenotypes in female patients with epilepsy due to protocadherin 19 mutations. 21480887 2011
dbSNP: rs201989363
rs201989363
Entrez Id: 57526
Gene Symbol: PCDH19
PCDH19
CUI: C1848137
Disease:
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder) 		0.800 GeneticVariation UNIPROT PCDH19 mutation in Japanese females with epilepsy. 22050978 2012
dbSNP: rs201989363
rs201989363
Entrez Id: 57526
Gene Symbol: PCDH19
PCDH19
CUI: C1848137
Disease:
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder) 		0.800 GeneticVariation UNIPROT Protocadherin 19 mutations in girls with infantile-onset epilepsy. 20713952 2010
dbSNP: rs201989363
rs201989363
Entrez Id: 57526
Gene Symbol: PCDH19
PCDH19
CUI: C1848137
Disease:
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder) 		0.800 GeneticVariation UNIPROT Recurrence risk of epilepsy and mental retardation in females due to parental mosaicism of PCDH19 mutations. 21519002 2011
dbSNP: rs201989363
rs201989363
Entrez Id: 57526
Gene Symbol: PCDH19
PCDH19
CUI: C1848137
Disease:
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder) 		0.800 GeneticVariation UNIPROT X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment. 18469813 2008
dbSNP: rs201989363
rs201989363
Entrez Id: 57526
Gene Symbol: PCDH19
PCDH19
CUI: C1848137
Disease:
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder) 		0.800 GeneticVariation UNIPROT Mutations and deletions in PCDH19 account for various familial or isolated epilepsies in females. 21053371 2011
dbSNP: rs201989363
rs201989363
Entrez Id: 57526
Gene Symbol: PCDH19
PCDH19
CUI: C1848137
Disease:
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder) 		0.800 GeneticVariation UNIPROT Diagnostic yield of genetic testing in epileptic encephalopathy in childhood. 25818041 2015
dbSNP: rs201989363
rs201989363
Entrez Id: 57526
Gene Symbol: PCDH19
PCDH19
CUI: C1848137
Disease:
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder) 		0.800 GeneticVariation UNIPROT Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation families. 19752159 2010
dbSNP: rs267606933
rs267606933
Entrez Id: 57526
Gene Symbol: PCDH19
PCDH19
CUI: C1848137
Disease:
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder) 		0.800 GeneticVariation UNIPROT Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation families. 19752159 2010
dbSNP: rs267606933
rs267606933
Entrez Id: 57526
Gene Symbol: PCDH19
PCDH19
CUI: C1848137
Disease:
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder) 		0.800 GeneticVariation UNIPROT Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis. 26993267 2016
dbSNP: rs267606933
rs267606933
Entrez Id: 57526
Gene Symbol: PCDH19
PCDH19
CUI: C1848137
Disease:
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder) 		0.800 GeneticVariation UNIPROT Protocadherin 19 mutations in girls with infantile-onset epilepsy. 20713952 2010
dbSNP: rs267606933
rs267606933
Entrez Id: 57526
Gene Symbol: PCDH19
PCDH19
CUI: C1848137
Disease:
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder) 		0.800 GeneticVariation UNIPROT Diagnostic yield of genetic testing in epileptic encephalopathy in childhood. 25818041 2015
dbSNP: rs267606933
rs267606933
Entrez Id: 57526
Gene Symbol: PCDH19
PCDH19
CUI: C1848137
Disease:
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder) 		0.800 GeneticVariation UNIPROT PCDH19 mutation in Japanese females with epilepsy. 22050978 2012
dbSNP: rs267606933
rs267606933
Entrez Id: 57526
Gene Symbol: PCDH19
PCDH19
CUI: C1848137
Disease:
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder) 		0.800 GeneticVariation UNIPROT PCDH19-related infantile epileptic encephalopathy: an unusual X-linked inheritance disorder. 22267240 2012
dbSNP: rs267606933
rs267606933
Entrez Id: 57526
Gene Symbol: PCDH19
PCDH19
CUI: C1848137
Disease:
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder) 		0.800 GeneticVariation UNIPROT Recurrence risk of epilepsy and mental retardation in females due to parental mosaicism of PCDH19 mutations. 21519002 2011
dbSNP: rs267606933
rs267606933
Entrez Id: 57526
Gene Symbol: PCDH19
PCDH19
CUI: C1848137
Disease:
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder) 		0.800 GeneticVariation UNIPROT Mutations and deletions in PCDH19 account for various familial or isolated epilepsies in females. 21053371 2011
dbSNP: rs267606933
rs267606933
Entrez Id: 57526
Gene Symbol: PCDH19
PCDH19
CUI: C1848137
Disease:
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder) 		0.800 GeneticVariation UNIPROT Spectrum of phenotypes in female patients with epilepsy due to protocadherin 19 mutations. 21480887 2011
dbSNP: rs267606933
rs267606933
Entrez Id: 57526
Gene Symbol: PCDH19
PCDH19
CUI: C1848137
Disease:
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder) 		0.800 GeneticVariation UNIPROT Novel de novo PCDH19 mutations in three unrelated females with epilepsy female restricted mental retardation syndrome. 20830798 2010
dbSNP: rs267606933
rs267606933
Entrez Id: 57526
Gene Symbol: PCDH19
PCDH19
CUI: C1848137
Disease:
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder) 		0.800 GeneticVariation UNIPROT X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment. 18469813 2008
dbSNP: rs267606933
rs267606933
Entrez Id: 57526
Gene Symbol: PCDH19
PCDH19
CUI: C1848137
Disease:
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder) 		0.800 GeneticVariation UNIPROT Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females. 19214208 2009