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: rs1131691646
rs1131691646
Entrez Id: 57526
Gene Symbol: PCDH19
PCDH19
CUI: C1848137
Disease:
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder) 		TG 0.700 CausalMutation CLINVAR Focal seizures with affective symptoms are a major feature of PCDH19 gene-related epilepsy. 22946748 2012
dbSNP: rs132630324
rs132630324
Entrez Id: 57526
Gene Symbol: PCDH19
PCDH19
CUI: C1848137
Disease:
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder) 		A 0.700 CausalMutation CLINVAR
dbSNP: rs132630325
rs132630325
Entrez Id: 57526
Gene Symbol: PCDH19
PCDH19
CUI: C1848137
Disease:
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder) 		C 0.700 CausalMutation CLINVAR
dbSNP: rs132630326
rs132630326
Entrez Id: 57526
Gene Symbol: PCDH19
PCDH19
CUI: C1848137
Disease:
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder) 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1555984453
rs1555984453
Entrez Id: 57526
Gene Symbol: PCDH19
PCDH19
CUI: C1848137
Disease:
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder) 		C 0.700 CausalMutation CLINVAR Mutations and deletions in PCDH19 account for various familial or isolated epilepsies in females. 21053371 2011
dbSNP: rs1555985105
rs1555985105
Entrez Id: 57526
Gene Symbol: PCDH19
PCDH19
CUI: C1848137
Disease:
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder) 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1555985163
rs1555985163
Entrez Id: 57526
Gene Symbol: PCDH19
PCDH19
CUI: C1848137
Disease:
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder) 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1555985372
rs1555985372
Entrez Id: 57526
Gene Symbol: PCDH19
PCDH19
CUI: C0026827
Disease:
Muscle hypotonia 		AC 0.700 CausalMutation CLINVAR Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females. 19214208 2009
dbSNP: rs1555985372
rs1555985372
Entrez Id: 57526
Gene Symbol: PCDH19
PCDH19
CUI: C0026827
Disease:
Muscle hypotonia 		AC 0.700 CausalMutation CLINVAR PCDH19-related epileptic encephalopathy in a male mosaic for a truncating variant. 27016041 2016
dbSNP: rs1555985372
rs1555985372
Entrez Id: 57526
Gene Symbol: PCDH19
PCDH19
CUI: C0026827
Disease:
Muscle hypotonia 		AC 0.700 CausalMutation CLINVAR Recurrence risk of epilepsy and mental retardation in females due to parental mosaicism of PCDH19 mutations. 21519002 2011
dbSNP: rs1555985372
rs1555985372
Entrez Id: 57526
Gene Symbol: PCDH19
PCDH19
CUI: C0026827
Disease:
Muscle hypotonia 		AC 0.700 CausalMutation CLINVAR Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation families. 19752159 2010
dbSNP: rs1555985372
rs1555985372
Entrez Id: 57526
Gene Symbol: PCDH19
PCDH19
CUI: C0026827
Disease:
Muscle hypotonia 		AC 0.700 CausalMutation CLINVAR Mutations and deletions in PCDH19 account for various familial or isolated epilepsies in females. 21053371 2011
dbSNP: rs1555985372
rs1555985372
Entrez Id: 57526
Gene Symbol: PCDH19
PCDH19
CUI: C0026827
Disease:
Muscle hypotonia 		AC 0.700 CausalMutation CLINVAR PCDH19-related epilepsy in two mosaic male patients. 26765483 2016
dbSNP: rs1555985372
rs1555985372
Entrez Id: 57526
Gene Symbol: PCDH19
PCDH19
CUI: C0026827
Disease:
Muscle hypotonia 		AC 0.700 CausalMutation CLINVAR Epilepsy and mental retardation limited to females: an under-recognized disorder. 18234694 2008
dbSNP: rs1555985372
rs1555985372
Entrez Id: 57526
Gene Symbol: PCDH19
PCDH19
CUI: C0026827
Disease:
Muscle hypotonia 		AC 0.700 CausalMutation CLINVAR PCDH19 mutation in Japanese females with epilepsy. 22050978 2012
dbSNP: rs1555985372
rs1555985372
Entrez Id: 57526
Gene Symbol: PCDH19
PCDH19
CUI: C0026827
Disease:
Muscle hypotonia 		AC 0.700 CausalMutation CLINVAR Somatic Mosaicism of PCDH19 in a male with early infantile epileptic encephalopathy and review of the literature. 28462982 2017
dbSNP: rs1555985372
rs1555985372
Entrez Id: 57526
Gene Symbol: PCDH19
PCDH19
CUI: C0026827
Disease:
Muscle hypotonia 		AC 0.700 CausalMutation CLINVAR Male patients affected by mosaic PCDH19 mutations: five new cases. 28669061 2017
dbSNP: rs1555985372
rs1555985372
Entrez Id: 57526
Gene Symbol: PCDH19
PCDH19
CUI: C0026827
Disease:
Muscle hypotonia 		AC 0.700 CausalMutation CLINVAR The genetics of Dravet syndrome. 21463275 2011
dbSNP: rs1555985372
rs1555985372
Entrez Id: 57526
Gene Symbol: PCDH19
PCDH19
CUI: C0026827
Disease:
Muscle hypotonia 		AC 0.700 CausalMutation CLINVAR PCDH19-related infantile epileptic encephalopathy: an unusual X-linked inheritance disorder. 22267240 2012
dbSNP: rs1555985372
rs1555985372
Entrez Id: 57526
Gene Symbol: PCDH19
PCDH19
CUI: C0432072
Disease:
Dysmorphic features 		AC 0.700 CausalMutation CLINVAR Spectrum of phenotypes in female patients with epilepsy due to protocadherin 19 mutations. 21480887 2011
dbSNP: rs1555985372
rs1555985372
Entrez Id: 57526
Gene Symbol: PCDH19
PCDH19
CUI: C0026827
Disease:
Muscle hypotonia 		AC 0.700 CausalMutation CLINVAR Focal seizures with affective symptoms are a major feature of PCDH19 gene-related epilepsy. 22946748 2012
dbSNP: rs1555985372
rs1555985372
Entrez Id: 57526
Gene Symbol: PCDH19
PCDH19
CUI: C0432072
Disease:
Dysmorphic features 		AC 0.700 CausalMutation CLINVAR PCDH19-related infantile epileptic encephalopathy: an unusual X-linked inheritance disorder. 22267240 2012
dbSNP: rs1555985372
rs1555985372
Entrez Id: 57526
Gene Symbol: PCDH19
PCDH19
CUI: C0432072
Disease:
Dysmorphic features 		AC 0.700 CausalMutation CLINVAR Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation families. 19752159 2010
dbSNP: rs1555985372
rs1555985372
Entrez Id: 57526
Gene Symbol: PCDH19
PCDH19
CUI: C0432072
Disease:
Dysmorphic features 		AC 0.700 CausalMutation CLINVAR Recurrence risk of epilepsy and mental retardation in females due to parental mosaicism of PCDH19 mutations. 21519002 2011
dbSNP: rs1555985372
rs1555985372
Entrez Id: 57526
Gene Symbol: PCDH19
PCDH19
CUI: C0432072
Disease:
Dysmorphic features 		AC 0.700 CausalMutation CLINVAR Male patients affected by mosaic PCDH19 mutations: five new cases. 28669061 2017