PCDH19, protocadherin 19, 57526

N. diseases: 93; N. variants: 48
Disease: EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder) ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1848137
Disease: EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder) 		0.720 Biomarker disease CTD_human
CUI: C1848137
Disease: EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder) 		0.720 CausalMutation disease CLINVAR Cystic fibrosis prenatal diagnosis: confirmation of an equivocal microvillar enzyme result by direct analysis of the common gene mutation. 2267240 1990
CUI: C1848137
Disease: EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder) 		0.720 GeneticVariation disease UNIPROT X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment. 18469813 2008
CUI: C1848137
Disease: EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder) 		0.720 GermlineCausalMutation disease ORPHANET X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment. 18469813 2008
CUI: C1848137
Disease: EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder) 		0.720 CausalMutation disease CLINVAR X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment. 18469813 2008
CUI: C1848137
Disease: EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder) 		0.720 GeneticVariation disease UNIPROT Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females. 19214208 2009
CUI: C1848137
Disease: EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder) 		0.720 CausalMutation disease CLINVAR Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females. 19214208 2009
CUI: C1848137
Disease: EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder) 		0.720 GermlineCausalMutation disease ORPHANET Novel de novo PCDH19 mutations in three unrelated females with epilepsy female restricted mental retardation syndrome. 20830798 2010
CUI: C1848137
Disease: EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder) 		0.720 Biomarker disease GENOMICS_ENGLAND Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation families. 19752159 2010
CUI: C1848137
Disease: EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder) 		0.720 GeneticVariation disease UNIPROT Protocadherin 19 mutations in girls with infantile-onset epilepsy. 20713952 2010
CUI: C1848137
Disease: EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder) 		0.720 GeneticVariation disease UNIPROT Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation families. 19752159 2010
CUI: C1848137
Disease: EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder) 		0.720 CausalMutation disease CLINVAR Protocadherin 19 mutations in girls with infantile-onset epilepsy. 20713952 2010
CUI: C1848137
Disease: EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder) 		0.720 GeneticVariation disease UNIPROT Novel de novo PCDH19 mutations in three unrelated females with epilepsy female restricted mental retardation syndrome. 20830798 2010
CUI: C1848137
Disease: EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder) 		0.720 GermlineCausalMutation disease ORPHANET Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation families. 19752159 2010
CUI: C1848137
Disease: EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder) 		0.720 GeneticVariation disease UNIPROT Spectrum of phenotypes in female patients with epilepsy due to protocadherin 19 mutations. 21480887 2011
CUI: C1848137
Disease: EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder) 		0.720 GeneticVariation disease UNIPROT Mutations and deletions in PCDH19 account for various familial or isolated epilepsies in females. 21053371 2011
CUI: C1848137
Disease: EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder) 		0.720 CausalMutation disease CLINVAR Mutations and deletions in PCDH19 account for various familial or isolated epilepsies in females. 21053371 2011
CUI: C1848137
Disease: EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder) 		0.720 CausalMutation disease CLINVAR Spectrum of phenotypes in female patients with epilepsy due to protocadherin 19 mutations. 21480887 2011
CUI: C1848137
Disease: EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder) 		0.720 GeneticVariation disease CLINVAR Mutations and deletions in PCDH19 account for various familial or isolated epilepsies in females. 21053371 2011
CUI: C1848137
Disease: EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder) 		0.720 GeneticVariation disease UNIPROT Recurrence risk of epilepsy and mental retardation in females due to parental mosaicism of PCDH19 mutations. 21519002 2011
CUI: C1848137
Disease: EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder) 		0.720 GeneticVariation disease BEFREE In conclusion, our results suggest that deletions at PCDH19 also cause EFMR. 22091964 2012
CUI: C1848137
Disease: EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder) 		0.720 GeneticVariation disease UNIPROT PCDH19-related infantile epileptic encephalopathy: an unusual X-linked inheritance disorder. 22267240 2012
CUI: C1848137
Disease: EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder) 		0.720 GeneticVariation disease BEFREE In the present study, we describe a PCDH19 mutation segregating from an asymptomatic mother to an EFMR patient. 22949144 2012
CUI: C1848137
Disease: EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder) 		0.720 CausalMutation disease CLINVAR Identification of SCN1A and PCDH19 mutations in Chinese children with Dravet syndrome. 22848613 2012
CUI: C1848137
Disease: EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder) 		0.720 CausalMutation disease CLINVAR Focal seizures with affective symptoms are a major feature of PCDH19 gene-related epilepsy. 22946748 2012