TOR1A, torsin family 1 member A, 1861

N. diseases: 115; N. variants: 14
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: C3267131
Disease: Psychogenic movement disorder
Psychogenic movement disorder 		disease Disease or Syndrome 1 0.010 None 1.000 1 2002 2002
CUI: C3710741
Disease: Torticollis, familial
Torticollis, familial 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 1 0.010 None 1.000 1 1996 1996
CUI: C4016920
Disease: DYSTONIA 1, TORSION, LATE-ONSET
DYSTONIA 1, TORSION, LATE-ONSET 		disease Finding 1 1 0.100 None 0 1
CUI: C1969807
Disease: Dystonia, Focal, Task-Specific
Dystonia, Focal, Task-Specific 		disease Nervous System Diseases Disease or Syndrome 2 0.020 None 1.000 2 2008 2010
CUI: C0025183
Disease: Meige Syndrome
Meige Syndrome 		disease Nervous System Diseases Disease or Syndrome 2 1 0.010 None 1.000 1 2004 2004
CUI: C2749929
Disease: Musician's Dystonia
Musician's Dystonia 		disease Nervous System Diseases Disease or Syndrome 2 8 0.010 None 1.000 1 1996 1996
CUI: C2875058
Disease: Familial torsion dystonia
Familial torsion dystonia 		disease Disease or Syndrome 3 0.200 None 1.000 6 2005 2015
CUI: C2930898
Disease: Benign essential blepharospasm
Benign essential blepharospasm 		disease Eye Diseases Disease or Syndrome 3 1 0.020 None 1.000 2 1 2007 2009
CUI: C1414216
Disease: Dystonia 6, torsion (disorder)
Dystonia 6, torsion (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 4 24 0.040 None 0.750 4 2006 2012
CUI: C3697670
Disease: Spinal cord myoclonus
Spinal cord myoclonus 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 4 0.100 None 0
CUI: C1851945
Disease: DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT
DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 5 4 0.900 None 0.943 35 4 1994 2018
CUI: C1334804
Disease: Motor Manifestations
Motor Manifestations 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 5 0.010 None 1.000 1 2004 2004
CUI: C0265267
Disease: Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects
Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome 6 14 0.010 None 1.000 1 2005 2005
CUI: C0752206
Disease: Dystonias, Sporadic
Dystonias, Sporadic 		disease Nervous System Diseases Disease or Syndrome 7 0.320 None 1.000 3 2006 2013
CUI: C0752208
Disease: Pseudodystonia
Pseudodystonia 		disease Nervous System Diseases Mental or Behavioral Dysfunction 7 0.310 None 1.000 2 2002 2013
CUI: C0752198
Disease: Adult-Onset Idiopathic Focal Dystonias
Adult-Onset Idiopathic Focal Dystonias 		disease Nervous System Diseases Disease or Syndrome 7 0.300 None 1.000 1 2013 2013
CUI: C0752199
Disease: Adult-Onset Idiopathic Torsion Dystonias
Adult-Onset Idiopathic Torsion Dystonias 		disease Nervous System Diseases Disease or Syndrome 7 0.300 None 1.000 1 2013 2013
CUI: C0752200
Disease: Autosomal Dominant Familial Dystonia
Autosomal Dominant Familial Dystonia 		disease Nervous System Diseases Disease or Syndrome 7 0.300 None 1.000 1 2013 2013
CUI: C0752201
Disease: Autosomal Recessive Familial Dystonia
Autosomal Recessive Familial Dystonia 		disease Nervous System Diseases Disease or Syndrome 7 0.300 None 1.000 1 2013 2013
CUI: C1850100
Disease: PARKINSON DISEASE 15, AUTOSOMAL RECESSIVE (disorder)
PARKINSON DISEASE 15, AUTOSOMAL RECESSIVE (disorder) 		disease Eye Diseases; Nervous System Diseases Disease or Syndrome 7 6 0.010 None 1.000 1 2018 2018
CUI: C0154676
Disease: Organic writer's cramp
Organic writer's cramp 		disease Nervous System Diseases Disease or Syndrome 9 3 0.100 None 1.000 10 2 1996 2017
CUI: C0393598
Disease: Idiopathic familial dystonia
Idiopathic familial dystonia 		disease Nervous System Diseases Disease or Syndrome 9 0.500 None 1.000 7 2005 2015
CUI: C0752197
Disease: Adult-Onset Dystonias
Adult-Onset Dystonias 		disease Nervous System Diseases Disease or Syndrome 9 2 0.310 None 1.000 2 2009 2013
CUI: C1868681
Disease: DYSTONIA 12
DYSTONIA 12 		disease Nervous System Diseases Disease or Syndrome 9 25 0.010 None 1.000 1 2005 2005
CUI: C0752205
Disease: Dystonia, Secondary
Dystonia, Secondary 		disease Nervous System Diseases Disease or Syndrome 10 0.310 None 1.000 2 2004 2013