PCDH19, protocadherin 19, 57526

N. diseases: 93; N. variants: 48
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4023511
Disease: Obtundation status
Obtundation status 		0.100 Biomarker disease HPO
CUI: C4024936
Disease: Temporal cortical atrophy
Temporal cortical atrophy 		0.100 CausalMutation disease CLINVAR
CUI: C4024965
Disease: Frontal cortical atrophy
Frontal cortical atrophy 		0.100 CausalMutation disease CLINVAR
CUI: C4049830
Disease: Focal seizures, afebril
Focal seizures, afebril 		0.100 Biomarker disease HPO
CUI: C4316903
Disease: Absence Seizures
Absence Seizures 		0.100 Biomarker phenotype HPO
CUI: C4316903
Disease: Absence Seizures
Absence Seizures 		0.100 CausalMutation phenotype CLINVAR
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.600 GeneticVariation disease BEFREE Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation families. 19752159 2010
CUI: C0524528
Disease: Pervasive Development Disorder
Pervasive Development Disorder 		0.010 GeneticVariation group BEFREE Autism spectrum disorder phenotype and intellectual disability in females with epilepsy and PCDH-19 mutations. 27179713 2016
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.020 GeneticVariation disease BEFREE Schizophrenia is a later-onset feature of PCDH19 Girls Clustering Epilepsy. 30828795 2019
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.600 Biomarker disease CTD_human 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
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.600 GeneticVariation disease LHGDN 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
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.600 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
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.200 AlteredExpression group 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
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		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
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.020 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
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.600 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
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.200 Biomarker group 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
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		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
CUI: C0085584
Disease: Encephalopathies
Encephalopathies 		0.040 GeneticVariation group BEFREE PCDH19 is likely a major epilepsy gene; phenotypes associated with mutations of this gene range from epileptic encephalopathies to mild epilepsy, yet large series of patients will be necessary to fully delineate phenotypic spectrum. 21480887 2011
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.600 Biomarker disease BEFREE PCDH19 sequencing analysis was performed in 116 females with various epilepsies, including 97 with Dravet syndrome (83.6%). 22050978 2012
CUI: C0751122
Disease: Infantile Severe Myoclonic Epilepsy
Infantile Severe Myoclonic Epilepsy 		0.400 Biomarker disease BEFREE PCDH19 sequencing analysis was performed in 116 females with various epilepsies, including 97 with Dravet syndrome (83.6%). 22050978 2012
CUI: C1839333
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2 		0.100 Biomarker disease BEFREE PCDH19 sequencing analysis was performed in 116 females with various epilepsies, including 97 with Dravet syndrome (83.6%). 22050978 2012
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.600 Biomarker disease BEFREE PCDH19 has become the second most relevant gene in epilepsy after SCN1A. 22267240 2012
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		0.050 GeneticVariation disease BEFREE PCDH19 mutations were also identified in epileptic females without cognitive impairment. 22267240 2012
CUI: C0751122
Disease: Infantile Severe Myoclonic Epilepsy
Infantile Severe Myoclonic Epilepsy 		0.400 GermlineCausalMutation disease ORPHANET PCDH19 mutations might account for 5ｵ of overall DS cases. 23093055 2012