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: rs587784299
rs587784299
Entrez Id: 57526
Gene Symbol: PCDH19
PCDH19
CUI: C1848137
Disease:
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
C 0.800 CausalMutation CLINVAR The clinical spectrum of female epilepsy patients with PCDH19 mutations in a Chinese population. 27527380 2017
dbSNP: rs796052839
rs796052839
Entrez Id: 57526
Gene Symbol: PCDH19
PCDH19
CUI: C1848137
Disease:
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
C 0.800 CausalMutation CLINVAR The clinical spectrum of female epilepsy patients with PCDH19 mutations in a Chinese population. 27527380 2017
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: 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: rs587784299
rs587784299
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: rs796052839
rs796052839
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 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 Diagnostic yield of genetic testing in epileptic encephalopathy in childhood. 25818041 2015
dbSNP: rs587784299
rs587784299
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: rs796052839
rs796052839
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: rs587784299
rs587784299
Entrez Id: 57526
Gene Symbol: PCDH19
PCDH19
CUI: C1848137
Disease:
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
C 0.800 CausalMutation CLINVAR Dravet syndrome: new potential genetic modifiers, imaging abnormalities, and ictal findings. 23808377 2013
dbSNP: rs796052839
rs796052839
Entrez Id: 57526
Gene Symbol: PCDH19
PCDH19
CUI: C1848137
Disease:
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
C 0.800 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
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 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 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: rs587784299
rs587784299
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: rs587784299
rs587784299
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: rs587784299
rs587784299
Entrez Id: 57526
Gene Symbol: PCDH19
PCDH19
CUI: C1848137
Disease:
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
C 0.800 CausalMutation CLINVAR Focal seizures with affective symptoms are a major feature of PCDH19 gene-related epilepsy. 22946748 2012
dbSNP: rs587784299
rs587784299
Entrez Id: 57526
Gene Symbol: PCDH19
PCDH19
CUI: C1848137
Disease:
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
C 0.800 CausalMutation CLINVAR PCDH19-related infantile epileptic encephalopathy: an unusual X-linked inheritance disorder. 22267240 2012
dbSNP: rs796052839
rs796052839
Entrez Id: 57526
Gene Symbol: PCDH19
PCDH19
CUI: C1848137
Disease:
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
C 0.800 CausalMutation CLINVAR Focal seizures with affective symptoms are a major feature of PCDH19 gene-related epilepsy. 22946748 2012
dbSNP: rs796052839
rs796052839
Entrez Id: 57526
Gene Symbol: PCDH19
PCDH19
CUI: C1848137
Disease:
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
C 0.800 CausalMutation CLINVAR Identification of SCN1A and PCDH19 mutations in Chinese children with Dravet syndrome. 22848613 2012
dbSNP: rs796052839
rs796052839
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: rs796052839
rs796052839
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 Spectrum of phenotypes in female patients with epilepsy due to protocadherin 19 mutations. 21480887 2011