ATXN7, ataxin 7, 6314

N. diseases: 162; N. variants: 13
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: C0271185
Disease: Metamorphopsia
Metamorphopsia 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Sign or Symptom 18 1 0.300 None 1.000 1 2014 2014
CUI: C0311375
Disease: Arsenic Poisoning
Arsenic Poisoning 		disease Nervous System Diseases; Chemically-Induced Disorders Injury or Poisoning 64 0.300 None 1.000 1 2006 2006
CUI: C0266487
Disease: Etat Marbre
Etat Marbre 		disease Nervous System Diseases Disease or Syndrome 23 0.300 None 1.000 1 2014 2014
CUI: C0234784
Disease: Reflex, Gag, Absent
Reflex, Gag, Absent 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 5 0.300 None 1.000 1 2014 2014
CUI: C0522345
Disease: Reflex, Acoustic, Abnormal
Reflex, Acoustic, Abnormal 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 5 0.300 None 1.000 1 2014 2014
CUI: C0234146
Disease: Absent reflex
Absent reflex 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 201 16 0.300 None 1.000 1 2014 2014
CUI: C0233771
Disease: Macropsia
Macropsia 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Finding 6 0.300 None 1.000 1 2014 2014
CUI: C0233769
Disease: Micropsia
Micropsia 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Sign or Symptom 6 0.300 None 1.000 1 2014 2014
CUI: C0558845
Disease: Reflex, Ankle, Absent
Reflex, Ankle, Absent 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 33 5 0.300 None 1.000 1 2014 2014
CUI: C0558846
Disease: Reflex, Triceps, Absent
Reflex, Triceps, Absent 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 5 0.300 None 1.000 1 2014 2014
CUI: C0231691
Disease: Cerebellar Gait Ataxia
Cerebellar Gait Ataxia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 1 0.300 None 1.000 1 2014 2014
CUI: C0558847
Disease: Reflex, Biceps, Absent
Reflex, Biceps, Absent 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 5 0.300 None 1.000 1 2014 2014
CUI: C0277850
Disease: Reflex, Pendular
Reflex, Pendular 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 5 0.300 None 1.000 1 2014 2014
CUI: C0751475
Disease: Reflex, Biceps, Decreased
Reflex, Biceps, Decreased 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 5 0.300 None 1.000 1 2014 2014
CUI: C0751476
Disease: Reflex, Gag, Decreased
Reflex, Gag, Decreased 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 5 0.300 None 1.000 1 2014 2014
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		group Nervous System Diseases Disease or Syndrome 362 247 0.300 None 1.000 1 2014 2014
CUI: C0751837
Disease: Gait Ataxia
Gait Ataxia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 172 17 0.300 None 1.000 1 2014 2014
CUI: C0751851
Disease: Arsenic Encephalopathy
Arsenic Encephalopathy 		disease Nervous System Diseases; Chemically-Induced Disorders Disease or Syndrome 62 0.300 None 1.000 1 2006 2006
CUI: C0751852
Disease: Arsenic Induced Polyneuropathy
Arsenic Induced Polyneuropathy 		disease Nervous System Diseases; Chemically-Induced Disorders Injury or Poisoning 62 0.300 None 1.000 1 2006 2006
CUI: C0752122
Disease: Spinocerebellar Ataxia Type 4
Spinocerebellar Ataxia Type 4 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 36 0.300 None 1.000 1 2014 2014
CUI: C0752123
Disease: Spinocerebellar Ataxia Type 5
Spinocerebellar Ataxia Type 5 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 48 7 0.300 None 1.000 1 2014 2014
CUI: C0274861
Disease: Arsenic Poisoning, Inorganic
Arsenic Poisoning, Inorganic 		disease Nervous System Diseases; Chemically-Induced Disorders Injury or Poisoning 62 0.300 None 1.000 1 2006 2006
CUI: C3489704
Disease: Vision Disability
Vision Disability 		disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 6 0.300 None 1.000 1 2014 2014
CUI: C0751836
Disease: Gait Ataxia, Sensory
Gait Ataxia, Sensory 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 1 0.300 None 1.000 1 2014 2014
CUI: C0241772
Disease: Reflex, Deep Tendon, Absent
Reflex, Deep Tendon, Absent 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 5 0.300 None 1.000 1 2014 2014