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: C1848137
Disease: EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder) 		0.720 Biomarker disease CTD_human
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.200 Biomarker group HPO
CUI: C0751495
Disease: Seizures, Focal
Seizures, Focal 		0.130 Biomarker phenotype HPO
CUI: C0234533
Disease: Generalized seizures
Generalized seizures 		0.120 CausalMutation disease CLINVAR
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.120 Biomarker disease HPO
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.120 CausalMutation disease CLINVAR
CUI: C0009952
Disease: Febrile Convulsions
Febrile Convulsions 		0.110 Biomarker disease HPO
CUI: C0033975
Disease: Psychotic Disorders
Psychotic Disorders 		0.110 Biomarker group HPO
CUI: C0038220
Disease: Status Epilepticus
Status Epilepticus 		0.110 Biomarker disease HPO
CUI: C0001807
Disease: Aggressive behavior
Aggressive behavior 		0.100 Biomarker phenotype HPO
CUI: C0003467
Disease: Anxiety
Anxiety 		0.100 Biomarker disease HPO
CUI: C0004134
Disease: Ataxia
Ataxia 		0.100 Biomarker phenotype HPO
CUI: C0021125
Disease: Impulsive Behavior
Impulsive Behavior 		0.100 Biomarker phenotype HPO
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		0.100 Biomarker disease HPO
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		0.100 Biomarker disease HPO
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 Biomarker phenotype HPO
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		0.100 Biomarker disease HPO
CUI: C0038379
Disease: Strabismus
Strabismus 		0.100 CausalMutation disease CLINVAR
CUI: C0040822
Disease: Tremor
Tremor 		0.100 Biomarker phenotype HPO
CUI: C0149958
Disease: Complex partial seizures
Complex partial seizures 		0.100 Biomarker disease HPO
CUI: C0151611
Disease: Electroencephalogram abnormal
Electroencephalogram abnormal 		0.100 Biomarker phenotype HPO
CUI: C0239842
Disease: Tremor of hands
Tremor of hands 		0.100 CausalMutation phenotype CLINVAR
CUI: C0270834
Disease: Complex partial seizure with impairment of consciousness
Complex partial seizure with impairment of consciousness 		0.100 Biomarker disease HPO
CUI: C0270846
Disease: Epileptic drop attack
Epileptic drop attack 		0.100 Biomarker disease HPO
CUI: C0349506
Disease: Photosensitivity of skin
Photosensitivity of skin 		0.100 Biomarker phenotype HPO