Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 57526
Gene Symbol: PCDH19
PCDH19 		0.720 Biomarker disease CTD_human
Entrez Id: 57526
Gene Symbol: PCDH19
PCDH19 		0.720 CausalMutation disease 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
Entrez Id: 57526
Gene Symbol: PCDH19
PCDH19 		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
Entrez Id: 7105
Gene Symbol: TSPAN6
TSPAN6 		0.010 GeneticVariation disease BEFREE Deletions of Tetraspanin 6 (Tspan6) gene, a member of the tetraspanin family, have been reported in patients with Epilepsy Female-restricted with Mental Retardation (EFMR). 28207852 2017
Entrez Id: 57526
Gene Symbol: PCDH19
PCDH19 		0.720 GeneticVariation disease UNIPROT Diagnostic yield of genetic testing in epileptic encephalopathy in childhood. 25818041 2015
Entrez Id: 57526
Gene Symbol: PCDH19
PCDH19 		0.720 CausalMutation disease CLINVAR Dravet syndrome: new potential genetic modifiers, imaging abnormalities, and ictal findings. 23808377 2013
Entrez Id: 57526
Gene Symbol: PCDH19
PCDH19 		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
Entrez Id: 57526
Gene Symbol: PCDH19
PCDH19 		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
Entrez Id: 57526
Gene Symbol: PCDH19
PCDH19 		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
Entrez Id: 57526
Gene Symbol: PCDH19
PCDH19 		0.720 CausalMutation disease CLINVAR Focal seizures with affective symptoms are a major feature of PCDH19 gene-related epilepsy. 22946748 2012
Entrez Id: 57526
Gene Symbol: PCDH19
PCDH19 		0.720 CausalMutation disease CLINVAR Identification of SCN1A and PCDH19 mutations in Chinese children with Dravet syndrome. 22848613 2012
Entrez Id: 57526
Gene Symbol: PCDH19
PCDH19 		0.720 GeneticVariation disease UNIPROT Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis. 26993267 2016
Entrez Id: 57526
Gene Symbol: PCDH19
PCDH19 		0.720 GeneticVariation disease BEFREE In conclusion, our results suggest that deletions at PCDH19 also cause EFMR. 22091964 2012
Entrez Id: 57526
Gene Symbol: PCDH19
PCDH19 		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
Entrez Id: 57526
Gene Symbol: PCDH19
PCDH19 		0.720 GeneticVariation disease UNIPROT Mutations and deletions in PCDH19 account for various familial or isolated epilepsies in females. 21053371 2011
Entrez Id: 57526
Gene Symbol: PCDH19
PCDH19 		0.720 CausalMutation disease CLINVAR Mutations and deletions in PCDH19 account for various familial or isolated epilepsies in females. 21053371 2011
Entrez Id: 57526
Gene Symbol: PCDH19
PCDH19 		0.720 GeneticVariation disease CLINVAR Mutations and deletions in PCDH19 account for various familial or isolated epilepsies in females. 21053371 2011
Entrez Id: 57526
Gene Symbol: PCDH19
PCDH19 		0.720 GermlineCausalMutation disease ORPHANET 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 		0.720 GeneticVariation disease UNIPROT 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 		0.720 GeneticVariation disease UNIPROT PCDH19 mutation in Japanese females with epilepsy. 22050978 2012
Entrez Id: 57526
Gene Symbol: PCDH19
PCDH19 		0.720 CausalMutation disease CLINVAR PCDH19-related epilepsy in two mosaic male patients. 26765483 2016
Entrez Id: 57526
Gene Symbol: PCDH19
PCDH19 		0.720 GeneticVariation disease UNIPROT PCDH19-related infantile epileptic encephalopathy: an unusual X-linked inheritance disorder. 22267240 2012
Entrez Id: 57526
Gene Symbol: PCDH19
PCDH19 		0.720 CausalMutation disease CLINVAR PCDH19-related infantile epileptic encephalopathy: an unusual X-linked inheritance disorder. 22267240 2012
Entrez Id: 57526
Gene Symbol: PCDH19
PCDH19 		0.720 GeneticVariation disease UNIPROT Protocadherin 19 mutations in girls with infantile-onset epilepsy. 20713952 2010
Entrez Id: 57526
Gene Symbol: PCDH19
PCDH19 		0.720 CausalMutation disease CLINVAR Protocadherin 19 mutations in girls with infantile-onset epilepsy. 20713952 2010