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: rs1278838206
rs1278838206
Entrez Id: 57526
Gene Symbol: PCDH19
PCDH19
CUI: C0014544
Disease:
Epilepsy 		0.010 GeneticVariation BEFREE Additionally, a heterozygous c.2926G>A (Asp976Asn) of PCDH19 was identified in patient with PIGV mutations, the causative gene of Epilepsy and mental retardation limited to females (EFMR). 27177984 2016
dbSNP: rs1278838206
rs1278838206
Entrez Id: 57526
Gene Symbol: PCDH19
PCDH19
CUI: C0025362
Disease:
Mental Retardation 		0.010 GeneticVariation BEFREE Additionally, a heterozygous c.2926G>A (Asp976Asn) of PCDH19 was identified in patient with PIGV mutations, the causative gene of Epilepsy and mental retardation limited to females (EFMR). 27177984 2016
dbSNP: rs1278838206
rs1278838206
Entrez Id: 57526
Gene Symbol: PCDH19
PCDH19
CUI: C3714756
Disease:
Intellectual Disability 		0.010 GeneticVariation BEFREE Additionally, a heterozygous c.2926G>A (Asp976Asn) of PCDH19 was identified in patient with PIGV mutations, the causative gene of Epilepsy and mental retardation limited to females (EFMR). 27177984 2016
dbSNP: rs796052839
rs796052839
Entrez Id: 57526
Gene Symbol: PCDH19
PCDH19
CUI: C1839333
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2 		0.010 GeneticVariation BEFREE A novel PCDH19 p.D377N mutation was identified in one SCN1A-negative female patient with Dravet syndrome and a known PCDH19 p.N340S mutation in a female non-Dravet syndrome patient. 22848613 2012
dbSNP: rs796052839
rs796052839
Entrez Id: 57526
Gene Symbol: PCDH19
PCDH19
CUI: C0751122
Disease:
Infantile Severe Myoclonic Epilepsy 		0.010 GeneticVariation BEFREE A novel PCDH19 p.D377N mutation was identified in one SCN1A-negative female patient with Dravet syndrome and a known PCDH19 p.N340S mutation in a female non-Dravet syndrome patient. 22848613 2012
dbSNP: rs132630323
rs132630323
Entrez Id: 57526
Gene Symbol: PCDH19
PCDH19
CUI: C1848137
Disease:
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder) 		T 0.800 CausalMutation CLINVAR
dbSNP: rs201989363
rs201989363
Entrez Id: 57526
Gene Symbol: PCDH19
PCDH19
CUI: C1848137
Disease:
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder) 		A 0.800 CausalMutation CLINVAR
dbSNP: rs267606933
rs267606933
Entrez Id: 57526
Gene Symbol: PCDH19
PCDH19
CUI: C1848137
Disease:
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder) 		C 0.800 CausalMutation CLINVAR
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: 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 The clinical spectrum of female epilepsy patients with PCDH19 mutations in a Chinese population. 27527380 2017
dbSNP: rs587784299
rs587784299
Entrez Id: 57526
Gene Symbol: PCDH19
PCDH19
CUI: C1848137
Disease:
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder) 		A 0.800 GeneticVariation CLINVAR
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 Protocadherin 19 mutations in girls with infantile-onset epilepsy. 20713952 2010
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) 		C 0.800 CausalMutation CLINVAR Cystic fibrosis prenatal diagnosis: confirmation of an equivocal microvillar enzyme result by direct analysis of the common gene mutation. 2267240 1990
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: rs796052839
rs796052839
Entrez Id: 57526
Gene Symbol: PCDH19
PCDH19
CUI: C1848137
Disease:
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder) 		C 0.800 CausalMutation CLINVAR Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females. 19214208 2009
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 Spectrum of phenotypes in female patients with epilepsy due to protocadherin 19 mutations. 21480887 2011
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: rs1057521256
rs1057521256
Entrez Id: 57526
Gene Symbol: PCDH19
PCDH19
CUI: C1848137
Disease:
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder) 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs1060502175
rs1060502175
Entrez Id: 57526
Gene Symbol: PCDH19
PCDH19
CUI: C1848137
Disease:
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder) 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1060502176
rs1060502176
Entrez Id: 57526
Gene Symbol: PCDH19
PCDH19
CUI: C1848137
Disease:
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder) 		A 0.700 GeneticVariation CLINVAR
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 Protocadherin 19 mutations in girls with infantile-onset epilepsy. 20713952 2010