PCDH19, protocadherin 19, 57526

N. diseases: 93; N. variants: 48
Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 2 44 0.720 strong 1.000 23 44 1990 2017
CUI: C0014544
Disease: Epilepsy
Epilepsy
disease Nervous System Diseases Disease or Syndrome 1215 339 0.600 definitive 0.981 54 1 2008 2019
CUI: C0751122
Disease: Infantile Severe Myoclonic Epilepsy
Infantile Severe Myoclonic Epilepsy
disease Nervous System Diseases Disease or Syndrome 63 32 0.400 None 0.923 13 1 2009 2018
CUI: C1136249
Disease: Mental Retardation, X-Linked
Mental Retardation, X-Linked
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 141 13 0.300 None 1.000 1 2008 2008
CUI: C0086237
Disease: Epilepsy, Cryptogenic
Epilepsy, Cryptogenic
disease Nervous System Diseases Disease or Syndrome 88 4 0.300 None 1.000 1 2008 2008
CUI: C0236018
Disease: Aura
Aura
phenotype Nervous System Diseases Finding 83 0.300 None 1.000 1 2008 2008
CUI: C0751111
Disease: Awakening Epilepsy
Awakening Epilepsy
disease Nervous System Diseases Disease or Syndrome 83 0.300 None 1.000 1 2008 2008
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 2165 159 0.200 None 0.964 28 1 2008 2019
CUI: C0751495
Disease: Seizures, Focal
Seizures, Focal
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 210 15 0.130 None 1.000 3 2012 2018
CUI: C0234533
Disease: Generalized seizures
Generalized seizures
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 210 13 0.120 None 1.000 2 1 2016 2018
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease Mental or Behavioral Dysfunction 1825 553 0.120 None 1.000 2 1 2010 2018
CUI: C0033975
Disease: Psychotic Disorders
Psychotic Disorders
group Mental Disorders Mental or Behavioral Dysfunction 560 179 0.110 None 1.000 1 2019 2019
CUI: C0009952
Disease: Febrile Convulsions
Febrile Convulsions
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 192 65 0.110 None 1.000 1 2015 2015
CUI: C0038220
Disease: Status Epilepticus
Status Epilepticus
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 533 12 0.110 None 1.000 1 2019 2019
CUI: C0025362
Disease: Mental Retardation
Mental Retardation
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 505 98 0.100 None 0.957 23 1 2008 2019
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
disease Congenital Abnormality 439 617 0.100 None 1.000 16 1 2008 2017
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 967 579 0.100 None 1.000 16 1 2008 2017
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
disease Nervous System Diseases Disease or Syndrome 57 43 0.100 None 0.909 11 1 2009 2018
CUI: C0036572
Disease: Seizures
Seizures
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 2152 553 0.100 None 1.000 11 2009 2019
CUI: C0376532
Disease: Epilepsy, Rolandic
Epilepsy, Rolandic
disease Nervous System Diseases Disease or Syndrome 46 81 0.100 None 1.000 1 1 2018 2018
CUI: C4024936
Disease: Temporal cortical atrophy
Temporal cortical atrophy
disease Disease or Syndrome 13 2 0.100 None 0 1
CUI: C4024965
Disease: Frontal cortical atrophy
Frontal cortical atrophy
disease Anatomical Abnormality 8 1 0.100 None 0 1
CUI: C0751057
Disease: Seizure, Febrile, Complex
Seizure, Febrile, Complex
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 19 1 0.100 None 0
CUI: C0600104
Disease: Obsessive compulsive behavior
Obsessive compulsive behavior
disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 94 16 0.100 None 0
CUI: C0595948
Disease: Atypical absence seizure
Atypical absence seizure
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 17 0.100 None 0