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: C4024965
Disease: Frontal cortical atrophy
Frontal cortical atrophy
disease Anatomical Abnormality 8 1 0.100 None 0 1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
disease Congenital Abnormality 439 617 0.100 None 1.000 16 1 2008 2017
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
Klinefelter's syndrome - male with more than two X chromosomes
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 90 5 0.010 None 1.000 1 2018 2018
CUI: C0014544
Disease: Epilepsy
Epilepsy
disease Nervous System Diseases Disease or Syndrome 1215 339 0.600 definitive 0.981 54 1 2008 2019
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: 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
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
disease Nervous System Diseases Disease or Syndrome 57 43 0.100 None 0.909 11 1 2009 2018
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: 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: C0085584
Disease: Encephalopathies
Encephalopathies
group Nervous System Diseases Disease or Syndrome 457 64 0.040 None 1.000 4 2009 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: 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: 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: 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: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
disease Disease or Syndrome 1075 276 0.020 None 1.000 2 2010 2011
Febrile infection related epilepsy syndrome
disease Nervous System Diseases Disease or Syndrome 8 2 0.020 None 1.000 2 2011 2012
CUI: C0006111
Disease: Brain Diseases
Brain Diseases
group Nervous System Diseases Disease or Syndrome 345 10 0.010 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: C0022735
Disease: Klinefelter Syndrome
Klinefelter Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 150 18 0.010 None 1.000 1 2018 2018
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 234 368 0.010 None < 0.001 1 2010 2010
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: C0086237
Disease: Epilepsy, Cryptogenic
Epilepsy, Cryptogenic
disease Nervous System Diseases Disease or Syndrome 88 4 0.300 None 1.000 1 2008 2008
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: C0391958
Disease: Familial Epilepsies
Familial Epilepsies
disease Nervous System Diseases Disease or Syndrome 16 2 0.010 None 1.000 1 2014 2014