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: 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
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: 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: C0349588
Disease: Short stature
Short stature
phenotype Finding 1127 292 0.100 None 0 1
CUI: C0038220
Disease: Status Epilepticus
Status Epilepticus
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 533 12 0.500 None 1.000 1 2010 2010
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
disease Mental Disorders Mental or Behavioral Dysfunction 1112 395 0.310 None 1.000 1 2008 2008
CUI: C0751523
Disease: Non-Convulsive Status Epilepticus
Non-Convulsive Status Epilepticus
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 71 0.300 None 1.000 1 2010 2010
CUI: C0270823
Disease: Petit mal status
Petit mal status
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 78 0.300 None 1.000 1 2010 2010
CUI: C0751524
Disease: Simple Partial Status Epilepticus
Simple Partial Status Epilepticus
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 68 0.300 None 1.000 1 2010 2010
CUI: C0311335
Disease: Grand Mal Status Epilepticus
Grand Mal Status Epilepticus
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 75 0.300 None 1.000 1 2010 2010
CUI: C0751522
Disease: Status Epilepticus, Subclinical
Status Epilepticus, Subclinical
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 69 0.300 None 1.000 1 2010 2010
CUI: C0393734
Disease: Complex Partial Status Epilepticus
Complex Partial Status Epilepticus
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 68 0.300 None 1.000 1 2010 2010
CUI: C0023892
Disease: Biliary cirrhosis
Biliary cirrhosis
disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome 132 36 0.200 None 1.000 1 2010 2010
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis
disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome 478 667 0.200 None 1.000 1 2010 2010
CUI: C0740392
Disease: Infarction, Middle Cerebral Artery
Infarction, Middle Cerebral Artery
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 145 0.200 None 1.000 1 2010 2010
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
group Cardiovascular Diseases Disease or Syndrome 2322 1085 0.200 None 1.000 1 1 2010 2010
CUI: C0011884
Disease: Diabetic Retinopathy
Diabetic Retinopathy
disease Eye Diseases; Endocrine System Diseases; Cardiovascular Diseases Disease or Syndrome 645 213 0.200 None 1.000 1 2012 2012
Experimental Autoimmune Encephalomyelitis
disease Immune System Diseases; Nervous System Diseases Experimental Model of Disease 97 0.200 None 1.000 1 2011 2011
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
group Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 2803 824 0.200 None 1.000 1 2010 2010
CUI: C0011853
Disease: Diabetes Mellitus, Experimental
Diabetes Mellitus, Experimental
disease Nutritional and Metabolic Diseases; Endocrine System Diseases Experimental Model of Disease 522 0.200 None 1.000 1 2012 2012
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: C0007786
Disease: Brain Ischemia
Brain Ischemia
disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 358 5 0.200 None 1.000 1 2009 2009
CUI: C0035328
Disease: Retinal Vein Occlusion
Retinal Vein Occlusion
disease Eye Diseases; Cardiovascular Diseases Disease or Syndrome 76 15 0.200 None 1.000 1 2011 2011