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: C0752125
Disease: Spinocerebellar Ataxia Type 7
Spinocerebellar Ataxia Type 7 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 78 2 0.800 None 0.985 67 2 1997 2019
CUI: C0087012
Disease: Ataxia, Spinocerebellar
Ataxia, Spinocerebellar 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 156 4 0.400 None 1.000 14 2002 2019
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 539 19 0.400 None 1.000 1 2014 2014
CUI: C0018975
Disease: Hemeralopia
Hemeralopia 		disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 12 0.400 None 1.000 1 2014 2014
CUI: C3665347
Disease: Visual Impairment
Visual Impairment 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Finding 422 0.400 None 1.000 1 2014 2014
CUI: C0752120
Disease: Spinocerebellar Ataxia Type 1
Spinocerebellar Ataxia Type 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 102 4 0.310 None 1.000 2 1999 2014
CUI: C0752121
Disease: Spinocerebellar Ataxia Type 2
Spinocerebellar Ataxia Type 2 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 76 3 0.310 None 1.000 2 2014 2014
CUI: C0752124
Disease: Spinocerebellar Ataxia Type 6 (disorder)
Spinocerebellar Ataxia Type 6 (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 64 11 0.310 None 1.000 2 1999 2014
CUI: C0151572
Disease: Reflex, Corneal, Decreased
Reflex, Corneal, Decreased 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 14 1 0.300 None 1.000 1 2014 2014
CUI: C0042790
Disease: Vision Disorders
Vision Disorders 		group Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Finding 6 0.300 None 1.000 1 2014 2014
CUI: C0743002
Disease: Abnormal Deep Tendon Reflex
Abnormal Deep Tendon Reflex 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 5 0.300 None 1.000 1 2014 2014
CUI: C0751468
Disease: Bulbocavernosus Reflex, Decreased
Bulbocavernosus Reflex, Decreased 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 5 0.300 None 1.000 1 2014 2014
CUI: C0751474
Disease: Reflex, Biceps, Abnormal
Reflex, Biceps, Abnormal 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 5 0.300 None 1.000 1 2014 2014
CUI: C0034933
Disease: Reflex, Abnormal
Reflex, Abnormal 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 7 1 0.300 None 1.000 1 2014 2014
CUI: C0751473
Disease: Reflex, Ankle, Decreased
Reflex, Ankle, Decreased 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 5 0.300 None 1.000 1 2014 2014
CUI: C0751472
Disease: Reflex, Ankle, Abnormal
Reflex, Ankle, Abnormal 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 5 0.300 None 1.000 1 2014 2014
CUI: C0751471
Disease: Reflex, Anal, Decreased
Reflex, Anal, Decreased 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 5 0.300 None 1.000 1 2014 2014
CUI: C0751470
Disease: Palmo-Mental Reflex
Palmo-Mental Reflex 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 6 2 0.300 None 1.000 1 2014 2014
CUI: C0751469
Disease: Bulbocavernousus Reflex Absent
Bulbocavernousus Reflex Absent 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 5 0.300 None 1.000 1 2014 2014
CUI: C0037274
Disease: Dermatologic disorders
Dermatologic disorders 		group Skin and Connective Tissue Diseases Disease or Syndrome 617 21 0.300 None 1.000 1 2006 2006
CUI: C0576612
Disease: Reflex, Anal, Absent
Reflex, Anal, Absent 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 5 0.300 None 1.000 1 2014 2014
CUI: C0151888
Disease: Hyporeflexia
Hyporeflexia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 312 0.300 None 1.000 1 2014 2014
CUI: C0277839
Disease: Hoffman's Reflex
Hoffman's Reflex 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 5 0.300 None 1.000 1 2014 2014
CUI: C0274862
Disease: Nervous System, Organic Arsenic Poisoning
Nervous System, Organic Arsenic Poisoning 		disease Nervous System Diseases; Chemically-Induced Disorders Injury or Poisoning 62 0.300 None 1.000 1 2006 2006
CUI: C0278211
Disease: Reflex, Corneal, Absent
Reflex, Corneal, Absent 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 5 0.300 None 1.000 1 2014 2014