ATXN3, ataxin 3, 4287

N. diseases: 151; N. variants: 7
Source: BEFREE ×
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: C0024408
Disease: Machado-Joseph Disease
Machado-Joseph Disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 133 10 0.700 None 0.981 309 5 1994 2020
CUI: C0011581
Disease: Depressive disorder
Depressive disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 1430 290 0.330 None 1.000 3 1993 2017
CUI: C0011570
Disease: Mental Depression
Mental Depression 		disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 1416 271 0.330 None 1.000 3 1993 2017
CUI: C0004134
Disease: Ataxia
Ataxia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 343 52 0.200 None 0.905 21 1995 2019
CUI: C0013421
Disease: Dystonia
Dystonia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 160 38 0.170 None 1.000 7 2003 2018
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Sign or Symptom 126 9 0.130 None 1.000 3 2000 2009
CUI: C0011168
Disease: Deglutition Disorders
Deglutition Disorders 		group Digestive System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 84 11 0.120 None 1.000 2 2017 2018
CUI: C1848736
Disease: Distal amyotrophy
Distal amyotrophy 		disease Disease or Syndrome 6 2 0.120 None 1.000 2 2002 2003
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		disease Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 1069 411 0.120 None 1.000 2 2012 2018
CUI: C4721453
Disease: Peripheral Nervous System Diseases
Peripheral Nervous System Diseases 		group Nervous System Diseases Disease or Syndrome 380 64 0.120 None 1.000 2 2 2005 2010
CUI: C0851578
Disease: Sleep Disorders
Sleep Disorders 		group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 207 38 0.110 None 1.000 1 2011 2011
CUI: C0700201
Disease: Dyssomnias
Dyssomnias 		disease Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 75 10 0.110 None 1.000 1 2011 2011
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		disease Disease or Syndrome 104 21 0.110 None 1.000 1 2010 2010
CUI: C0026837
Disease: Muscle Rigidity
Muscle Rigidity 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Sign or Symptom 188 15 0.110 None 1.000 1 2014 2014
CUI: C0233565
Disease: Bradykinesia
Bradykinesia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 44 10 0.110 None 1.000 1 2014 2014
CUI: C0427190
Disease: Ataxia, Truncal
Ataxia, Truncal 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 1 0.110 None 1.000 1 2005 2005
CUI: C0037317
Disease: Sleep disturbances
Sleep disturbances 		phenotype Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Sign or Symptom 132 33 0.110 None 1.000 1 2011 2011
CUI: C3160718
Disease: PARKINSON DISEASE, LATE-ONSET
PARKINSON DISEASE, LATE-ONSET 		disease Disease or Syndrome 241 48 0.110 None 1.000 1 2009 2009
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders 		group Nervous System Diseases Disease or Syndrome 1480 85 0.100 None 1.000 59 1 1995 2020
CUI: C0087012
Disease: Ataxia, Spinocerebellar
Ataxia, Spinocerebellar 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 134 3 0.100 None 0.980 49 1995 2019
CUI: C0018790
Disease: Cardiac Arrest
Cardiac Arrest 		disease Cardiovascular Diseases Disease or Syndrome 375 47 0.100 None 0.933 30 1995 2019
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 420 64 0.100 None 0.963 27 1994 2019
CUI: C0751781
Disease: Dentatorubral-Pallidoluysian Atrophy
Dentatorubral-Pallidoluysian Atrophy 		disease Nervous System Diseases Disease or Syndrome 81 0.100 None 1.000 19 1996 2016
CUI: C0020179
Disease: Huntington Disease
Huntington Disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders Disease or Syndrome 945 69 0.100 None 0.947 19 1995 2020
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders 		group Nervous System Diseases Disease or Syndrome 288 90 0.100 None 1.000 13 2000 2019