Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 57526
Gene Symbol: PCDH19
PCDH19
0.100 GeneticVariation disease BEFREE The clinical spectrum of PCDH19 mutation includes PCDH19 Girls Clustering Epilepsy with or without mental retardation, psychosis, and asymptomatic male. 31714027 2019
Entrez Id: 57526
Gene Symbol: PCDH19
PCDH19
0.100 GeneticVariation disease BEFREE Protocadherin 19 (PCDH19) mutations have been identified in epilepsy in females with mental retardation as well as patients with a "Dravet-like" phenotype. 30530412 2018
Entrez Id: 57526
Gene Symbol: PCDH19
PCDH19
0.100 GeneticVariation disease BEFREE Case report of a novel PCDH19 frameshift mutation in a girl with epilepsy and mental retardation limited to females. 30572518 2018
Entrez Id: 57526
Gene Symbol: PCDH19
PCDH19
0.100 GeneticVariation disease BEFREE In the present study, we assessed mutations in the PCDH19 gene and the clinical features of a group of Chinese patients with early infantile epileptic encephalopathy and aimed to provide further insight into the understanding of epilepsy and mental retardation limited to females (EFMR; MIM 300088). 29866057 2018
Entrez Id: 57526
Gene Symbol: PCDH19
PCDH19
0.100 Biomarker disease BEFREE PCDH19 epilepsy was previously known as "epilepsy and mental retardation limited to females", since the condition almost exclusively affects females. 29933145 2018
Entrez Id: 57526
Gene Symbol: PCDH19
PCDH19
0.100 Biomarker disease BEFREE Mutations in the X-linked gene Protocadherin-19 (Pcdh19) cause female-limited epilepsy and mental retardation in humans. 28724954 2017
Entrez Id: 57526
Gene Symbol: PCDH19
PCDH19
0.100 Biomarker disease BEFREE PCDH19-related epilepsy is a genetic disorder that was first described in 1971, then referred to as "epilepsy and mental retardation limited to females". 26898795 2016
Entrez Id: 57526
Gene Symbol: PCDH19
PCDH19
0.100 GeneticVariation disease BEFREE PCDH19 mutations cause epilepsy and mental retardation limited to females (EFMR) or Dravet-like syndromes. 26820223 2016
Entrez Id: 57526
Gene Symbol: PCDH19
PCDH19
0.100 GeneticVariation disease 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
Entrez Id: 57526
Gene Symbol: PCDH19
PCDH19
0.100 Biomarker disease BEFREE PCDH19-related epilepsy is an emerging epileptic syndrome characterized by the occurrence of epilepsy in female patients associated with mental retardation and autistic features in most cases. 25510386 2015
Entrez Id: 57526
Gene Symbol: PCDH19
PCDH19
0.100 Biomarker disease BEFREE The present findings confirm that PCDH19 is a major causative gene for infantile onset familial or sporadic epilepsy in female patients with or without mental retardation. 25218114 2015
Entrez Id: 57526
Gene Symbol: PCDH19
PCDH19
0.100 GeneticVariation disease BEFREE Epilepsy and mental retardation limited to females (EFMR), caused by PCDH19 mutations, has a variable clinical expression that needs further exploration. 23334464 2013
Entrez Id: 57526
Gene Symbol: PCDH19
PCDH19
0.100 GeneticVariation disease BEFREE The occurrence of epilepsy with mental retardation limited to females (EFMR; MIM 300088) has been recently associated to mutations in the PCDH19 gene, located on chromosome X and encoding for protocadherin 19. 22949144 2012
Entrez Id: 57526
Gene Symbol: PCDH19
PCDH19
0.100 GeneticVariation disease BEFREE Mutations of the protocadherin19 gene (PCDH19) cause a female-related epilepsy of variable severity, with or without mental retardation and autistic features. 22946748 2012
Entrez Id: 57526
Gene Symbol: PCDH19
PCDH19
0.100 GeneticVariation disease BEFREE It indicates that PCDH19 mutation testing should be performed in sporadic cases with no family history that still demonstrate well-established features of peculiar X-linked epilepsy with mental retardation limited to females. 22633638 2012
Entrez Id: 57526
Gene Symbol: PCDH19
PCDH19
0.100 GeneticVariation disease BEFREE Recently, missense and truncating mutations in the gene PCDH19 have been reported to cause female-restricted epilepsy with mental retardation (EFMR). 22091964 2012
Entrez Id: 57526
Gene Symbol: PCDH19
PCDH19
0.100 GeneticVariation disease BEFREE Heterozygous PCDH19 mutations were initially identified in epilepsy and mental retardation limited to females, a familial disorder with a singular mode of inheritance as only heterozygous females are affected, whereas hemizygous males are asymptomatic. 22267240 2012
Entrez Id: 57526
Gene Symbol: PCDH19
PCDH19
0.100 GeneticVariation disease BEFREE Mutations in the protocadherin 19 (PCDH19) gene cause epilepsy and mental retardation limited to females (EFMR). 21519002 2011
Entrez Id: 57526
Gene Symbol: PCDH19
PCDH19
0.100 GeneticVariation disease BEFREE These results show that mutations in PCDH19 are a relatively frequent cause of epilepsy in females and should be considered even in absence of family history and/or mental retardation. 21053371 2011
Entrez Id: 57526
Gene Symbol: PCDH19
PCDH19
0.100 GeneticVariation disease BEFREE Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation families. 19752159 2010
Entrez Id: 57526
Gene Symbol: PCDH19
PCDH19
0.100 Biomarker disease BEFREE PCDH19 is emerging as a major gene for infantile-onset familial or sporadic epilepsy in female patients with or without mental retardation. 20713952 2010
Entrez Id: 57526
Gene Symbol: PCDH19
PCDH19
0.100 GeneticVariation disease BEFREE Novel de novo PCDH19 mutations in three unrelated females with epilepsy female restricted mental retardation syndrome. 20830798 2010
Entrez Id: 57526
Gene Symbol: PCDH19
PCDH19
0.100 AlteredExpression disease BEFREE PCDH19 is expressed in developing brains of human and mouse and is the first member of the cadherin superfamily to be directly implicated in epilepsy or mental retardation. 18469813 2008