AQP4, aquaporin 4, 361

N. diseases: 311; N. variants: 9
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: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 441 120 0.100 None 0 1
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 783 111 0.100 None 0 1
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		group Cardiovascular Diseases Disease or Syndrome 925 294 0.100 None 0 1
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 340 56 0.100 None 0 1
CUI: C0349588
Disease: Short stature
Short stature 		phenotype Finding 1127 292 0.100 None 0 1
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 1
CUI: C0410174
Disease: Fukuyama Type Congenital Muscular Dystrophy
Fukuyama Type Congenital Muscular Dystrophy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Disease or Syndrome 35 29 0.010 None 1.000 1 2003 2003
CUI: C0333641
Disease: Atrophic
Atrophic 		phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 58 1 0.010 None 1.000 1 2004 2004
CUI: C0011175
Disease: Dehydration
Dehydration 		phenotype Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases Disease or Syndrome 295 6 0.010 None 1.000 1 2005 2005
CUI: C0020429
Disease: Hyperalgesia
Hyperalgesia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 451 4 0.200 None 1.000 1 2005 2005
CUI: C0752347
Disease: Lewy Body Disease
Lewy Body Disease 		disease Nervous System Diseases; Mental Disorders Disease or Syndrome 255 41 0.010 None 1.000 1 2006 2006
CUI: C0162534
Disease: Prion Diseases
Prion Diseases 		group Infections; Nervous System Diseases Disease or Syndrome 175 67 0.010 None 1.000 1 2006 2006
CUI: C4281802
Disease: Spongiform encephalopathy
Spongiform encephalopathy 		disease Infections; Nervous System Diseases Disease or Syndrome 14 2 0.010 None 1.000 1 2006 2006
CUI: C0022336
Disease: Creutzfeldt-Jakob disease
Creutzfeldt-Jakob disease 		disease Infections; Nervous System Diseases; Mental Disorders Disease or Syndrome 137 52 0.020 None 1.000 2 2006 2007
CUI: C3711850
Disease: Opticospinal Multiple Sclerosis
Opticospinal Multiple Sclerosis 		disease Immune System Diseases; Nervous System Diseases Disease or Syndrome 7 0.020 None 1.000 2 2005 2007
CUI: C0549423
Disease: Obstructive Hydrocephalus
Obstructive Hydrocephalus 		disease Nervous System Diseases Disease or Syndrome 18 1 0.010 None 1.000 1 2007 2007
CUI: C0334583
Disease: Pilocytic Astrocytoma
Pilocytic Astrocytoma 		disease Neoplasms Neoplastic Process 163 14 0.010 None 1.000 1 2007 2007
CUI: C1510428
Disease: Cerebral abscess
Cerebral abscess 		disease Infections; Nervous System Diseases Disease or Syndrome 11 1 0.010 None 1.000 1 2007 2007
CUI: C0857122
Disease: Hyponatraemic
Hyponatraemic 		disease Disease or Syndrome 5 2 0.010 None 1.000 1 2007 2007
CUI: C0025289
Disease: Meningitis
Meningitis 		disease Nervous System Diseases Disease or Syndrome 191 13 0.010 None 1.000 1 2007 2007
CUI: C0006105
Disease: Brain Abscess
Brain Abscess 		disease Infections; Nervous System Diseases Disease or Syndrome 14 1 0.010 None 1.000 1 2007 2007
CUI: C1852467
Disease: Creutzfeldt-Jakob Disease, Sporadic
Creutzfeldt-Jakob Disease, Sporadic 		disease Infections; Nervous System Diseases; Mental Disorders Disease or Syndrome 57 23 0.010 None 1.000 1 2007 2007
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 375 170 0.030 None 1.000 3 2002 2008
CUI: C0861152
Disease: Bilateral optic neuritis
Bilateral optic neuritis 		disease Eye Diseases; Nervous System Diseases Disease or Syndrome 2 0.010 None 1.000 1 2008 2008
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 280 67 0.010 None 1.000 1 2008 2008