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.
CUI: C3203523
Disease: Acute repetitive seizure
Acute repetitive seizure
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 1 0.010 None 1.000 1 2016 2016
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: C0863106
Disease: Afebrile seizure
Afebrile seizure
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 8 1 0.030 None 1.000 3 2009 2011
Febrile infection related epilepsy syndrome
disease Nervous System Diseases Disease or Syndrome 8 2 0.020 None 1.000 2 2011 2012
CUI: C4021982
Disease: Abnormal eating behavior
Abnormal eating behavior
phenotype Mental or Behavioral Dysfunction 8 0.100 None 0
CUI: C4024965
Disease: Frontal cortical atrophy
Frontal cortical atrophy
disease Anatomical Abnormality 8 1 0.100 None 0 1
CUI: C0752323
Disease: Focal Clonic Seizures
Focal Clonic Seizures
disease Nervous System Diseases Disease or Syndrome 12 1 0.100 None 0
CUI: C4023511
Disease: Obtundation status
Obtundation status
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 12 0.100 None 0
CUI: C4024936
Disease: Temporal cortical atrophy
Temporal cortical atrophy
disease Disease or Syndrome 13 2 0.100 None 0 1
CUI: C0391958
Disease: Familial Epilepsies
Familial Epilepsies
disease Nervous System Diseases Disease or Syndrome 16 2 0.010 None 1.000 1 2014 2014
CUI: C1835807
Disease: Prominent fingertip pads
Prominent fingertip pads
phenotype Finding 16 8 0.100 None 0 1
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
CUI: C4023499
Disease: Generalized clonic seizures
Generalized clonic seizures
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 18 0.100 None 0
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: C4021087
Disease: Abnormal social behavior
Abnormal social behavior
phenotype Behavior and Behavior Mechanisms Finding 19 0.100 None 0
CUI: C0001726
Disease: Affective Symptoms
Affective Symptoms
phenotype Behavior and Behavior Mechanisms Sign or Symptom 23 10 0.020 None 1.000 2 2012 2016
Generalized tonic-clonic seizures with focal onset
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 23 1 0.100 None 0
CUI: C4049830
Disease: Focal seizures, afebril
Focal seizures, afebril
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 25 0.100 None 0
CUI: C1836508
Disease: Generalized tonic seizures
Generalized tonic seizures
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 30 3 0.100 None 0
CUI: C0239842
Disease: Tremor of hands
Tremor of hands
phenotype Sign or Symptom 31 7 0.100 None 0 1
CUI: C4022738
Disease: Neurodevelopmental delay
Neurodevelopmental delay
phenotype Finding 39 24 0.100 None 0
Complex partial seizure with impairment of consciousness
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 41 10 0.100 None 0
CUI: C4505072
Disease: Epileptic Syndromes
Epileptic Syndromes
disease Nervous System Diseases Disease or Syndrome 46 2 0.050 None 1.000 5 2013 2018
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: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms
disease Nervous System Diseases Disease or Syndrome 53 122 0.050 None 1.000 5 2015 2019