ATXN3, ataxin 3, 4287

N. diseases: 207; N. variants: 12
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: C0159104
Disease: Electrooculogram abnormal
Electrooculogram abnormal 		phenotype Finding 1 0.100 None 0
CUI: C0751668
Disease: Machado-Joseph Disease Type I
Machado-Joseph Disease Type I 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 1 0.500 None 0
CUI: C0751669
Disease: Machado-Joseph Disease Type II
Machado-Joseph Disease Type II 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 1 0.500 None 0
CUI: C0751670
Disease: Machado-Joseph Disease Type III
Machado-Joseph Disease Type III 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 1 0.500 None 0
CUI: C0751671
Disease: Machado-Joseph Disease Type IV
Machado-Joseph Disease Type IV 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 1 0.300 None 0
CUI: C1862359
Disease: Facial-lingual fasciculations
Facial-lingual fasciculations 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 1 0.100 None 0
CUI: C4285818
Disease: Reduced facial expression
Reduced facial expression 		disease Disease or Syndrome 2 0.010 None 1.000 1 2014 2014
CUI: C2586031
Disease: Hereditary antithrombin III deficiency
Hereditary antithrombin III deficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 3 0.010 None 1.000 1 1995 1995
CUI: C2363915
Disease: Cerebellar ischaemia
Cerebellar ischaemia 		disease Disease or Syndrome 4 0.010 None 1.000 1 2015 2015
CUI: C1408507
Disease: Supranuclear ophthalmoplegia
Supranuclear ophthalmoplegia 		disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 5 0.100 None 0
CUI: C0268384
Disease: Familial Amyloid Neuropathy, Portuguese Type
Familial Amyloid Neuropathy, Portuguese Type 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 6 2 0.010 None 1.000 1 1 2006 2006
CUI: C0030508
Disease: Parasomnia
Parasomnia 		group Nervous System Diseases; Mental Disorders Disease or Syndrome 7 0.010 None 1.000 1 2016 2016
CUI: C1866753
Disease: Impaired horizontal smooth pursuit
Impaired horizontal smooth pursuit 		phenotype Finding 7 0.100 None 0
CUI: C1963674
Disease: Spinocerebellar Ataxia 10
Spinocerebellar Ataxia 10 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 9 0.020 None 0.500 2 2020 2020
CUI: C0271386
Disease: Vertical Nystagmus
Vertical Nystagmus 		disease Eye Diseases; Nervous System Diseases Disease or Syndrome 9 2 0.010 None 1.000 1 2008 2008
CUI: C4022417
Disease: Degeneration of the striatum
Degeneration of the striatum 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 9 0.100 None 0
CUI: C0265218
Disease: Neu-Laxova syndrome
Neu-Laxova syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 10 0.010 None 1.000 1 2018 2018
CUI: C3805092
Disease: Methylenetetrahydrofolate reductase gene mutation
Methylenetetrahydrofolate reductase gene mutation 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 11 3 0.010 None 1.000 1 2005 2005
CUI: C0393911
Disease: Pure Autonomic Failure
Pure Autonomic Failure 		disease Nervous System Diseases Disease or Syndrome 12 3 0.010 None 1.000 1 2010 2010
CUI: C1863843
Disease: Neuronal intranuclear inclusion disease
Neuronal intranuclear inclusion disease 		disease Nervous System Diseases Disease or Syndrome 12 0.010 None 1.000 1 1999 1999
CUI: C1720416
Disease: Episodic ataxia type 2 (disorder)
Episodic ataxia type 2 (disorder) 		disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 13 60 0.010 None 1.000 1 2002 2002
CUI: C1847117
Disease: Dilated fourth ventricle
Dilated fourth ventricle 		phenotype Finding 13 1 0.100 None 0
CUI: C0034341
Disease: Pyruvate Carboxylase Deficiency Disease
Pyruvate Carboxylase Deficiency Disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 14 33 0.010 None 1.000 1 2005 2005
CUI: C1846865
Disease: Substantia nigra gliosis
Substantia nigra gliosis 		phenotype Pathological Conditions, Signs and Symptoms Finding 14 0.100 None 0
CUI: C0234366
Disease: Ataxic
Ataxic 		phenotype Sign or Symptom 15 4 0.020 None 1.000 2 2004 2015