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: C0087012
Disease: Ataxia, Spinocerebellar
Ataxia, Spinocerebellar
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 156 4 0.100 None 0.980 51 1995 2019
CUI: C0018790
Disease: Cardiac Arrest
Cardiac Arrest
disease Cardiovascular Diseases Disease or Syndrome 411 50 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 441 120 0.100 None 0.963 27 1994 2019
CUI: C0004134
Disease: Ataxia
Ataxia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 868 68 0.200 None 0.905 21 1995 2019
CUI: C0020179
Disease: Huntington Disease
Huntington Disease
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders Disease or Syndrome 978 115 0.100 None 0.947 19 1995 2020
Dentatorubral-Pallidoluysian Atrophy
disease Nervous System Diseases Disease or Syndrome 95 0.100 None 1.000 19 1996 2016
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders
group Nervous System Diseases Disease or Syndrome 373 95 0.100 None 1.000 13 2000 2019
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 0.100 None 1.000 12 1997 2017
Autosomal dominant cerebellar ataxia
disease Disease or Syndrome 31 2 0.100 None 0.917 12 1995 2011
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
disease Nervous System Diseases Disease or Syndrome 2078 990 0.100 None 0.917 12 2003 2019
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 0.100 None 1.000 11 1995 2011
CUI: C4086165
Disease: Childhood Neuroblastoma
Childhood Neuroblastoma
disease Neoplasms Neoplastic Process 2420 231 0.090 None 1.000 9 2004 2019
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma
disease Neoplasms; Nervous System Diseases Neoplastic Process 2419 231 0.090 None 1.000 9 2004 2019
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
disease Neoplasms Neoplastic Process 2509 386 0.090 None 1.000 9 2004 2019
CUI: C0013421
Disease: Dystonia
Dystonia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 453 97 0.170 None 1.000 7 2003 2018
CUI: C0393593
Disease: Dystonia Disorders
Dystonia Disorders
group Nervous System Diseases Disease or Syndrome 167 37 0.070 None 1.000 7 2003 2018
Spinocerebellar Ataxia Type 6 (disorder)
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 64 11 0.060 None 1.000 6 1998 2019
CUI: C0011570
Disease: Mental Depression
Mental Depression
disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 1478 271 0.330 None 1.000 6 1993 2017
CUI: C0011581
Disease: Depressive disorder
Depressive disorder
disease Mental Disorders Mental or Behavioral Dysfunction 1719 297 0.330 None 1.000 6 1993 2017
CUI: C0262404
Disease: Cerebellar degeneration
Cerebellar degeneration
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 60 0.040 None 1.000 4 2012 2019
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 0.030 None 1.000 3 1998 2014
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
disease Disease or Syndrome 1075 276 0.030 None 0.667 3 1988 2012
CUI: C0027404
Disease: Narcolepsy
Narcolepsy
disease Nervous System Diseases; Mental Disorders Disease or Syndrome 308 454 0.030 None 1.000 3 2001 2017
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity
phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Sign or Symptom 580 48 0.130 None 1.000 3 2000 2009
CUI: C0600433
Disease: Activated Protein C Resistance
Activated Protein C Resistance
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 41 30 0.030 None 1.000 3 1997 2005