Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs796052839
rs796052839
PCDH19
CUI: C1848137
Disease: EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
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
PCDH19
CUI: C1848137
Disease: EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
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: rs796052839
rs796052839
PCDH19
CUI: C1848137
Disease: EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
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
PCDH19
CUI: C1848137
Disease: EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
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
PCDH19
CUI: C1848137
Disease: EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
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
PCDH19
CUI: C1848137
Disease: EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
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
PCDH19
CUI: C1848137
Disease: EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
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
PCDH19
CUI: C1848137
Disease: EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
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