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: 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: C0015967
Disease: Fever
Fever
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 1021 66 0.090 None 1.000 9 2009 2019
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
CUI: C0338656
Disease: Impaired cognition
Impaired cognition
disease Mental Disorders Mental or Behavioral Dysfunction 1630 348 0.050 None 1.000 5 2008 2016
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: C0004352
Disease: Autistic Disorder
Autistic Disorder
disease Mental Disorders Mental or Behavioral Dysfunction 1112 395 0.040 None 1.000 4 2006 2019
CUI: C0085584
Disease: Encephalopathies
Encephalopathies
group Nervous System Diseases Disease or Syndrome 457 64 0.040 None 1.000 4 2009 2019
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
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: C0233514
Disease: Abnormal behavior
Abnormal behavior
phenotype Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 910 121 0.030 None 1.000 3 2017 2019
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease Nervous System Diseases Disease or Syndrome 187 126 0.030 None 1.000 3 2012 2018
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
disease Mental Disorders Mental or Behavioral Dysfunction 1071 331 0.030 None 0.667 3 2010 2016
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder)
phenotype Mental Disorders Mental or Behavioral Dysfunction 584 68 0.020 None 1.000 2 2010 2018
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
disease Disease or Syndrome 1075 276 0.020 None 1.000 2 2010 2011
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
disease Mental Disorders Mental or Behavioral Dysfunction 2872 2897 0.020 None 1.000 2 2012 2019
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 1098 73 0.020 None 1.000 2 2018 2018
Febrile infection related epilepsy syndrome
disease Nervous System Diseases Disease or Syndrome 8 2 0.020 None 1.000 2 2011 2012
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
CUI: C0001973
Disease: Alcoholic Intoxication, Chronic
Alcoholic Intoxication, Chronic
disease Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 577 441 0.010 None 1.000 1 2012 2012
CUI: C0236018
Disease: Aura
Aura
phenotype Nervous System Diseases Finding 83 0.300 None 1.000 1 2008 2008
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: C0009241
Disease: Cognition Disorders
Cognition Disorders
group Mental Disorders Mental or Behavioral Dysfunction 607 47 0.010 None 1.000 1 2016 2016
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
group Neoplasms Neoplastic Process 8621 1641 0.010 None 1.000 1 2018 2018
CUI: C0349204
Disease: Nonorganic psychosis
Nonorganic psychosis
disease Mental Disorders Mental or Behavioral Dysfunction 376 98 0.010 None 1.000 1 2019 2019
CUI: C1535926
Disease: Neurodevelopmental Disorders
Neurodevelopmental Disorders
group Mental Disorders Mental or Behavioral Dysfunction 535 14 0.010 None 1.000 1 2018 2018