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: 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: C3888090
Disease: Early onset torsion dystonia
Early onset torsion dystonia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 22 1 0.800 None 0.986 70 1 1994 2020
CUI: C0743332
Disease: Focal Dystonia
Focal Dystonia 		disease Nervous System Diseases Disease or Syndrome 21 8 0.580 None 0.889 9 5 1998 2017
CUI: C0013421
Disease: Dystonia
Dystonia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 453 97 0.500 None 0.973 219 8 1991 2019
CUI: C4316810
Disease: Writer's Cramp
Writer's Cramp 		disease Nervous System Diseases Disease or Syndrome 26 3 0.500 None 1.000 11 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: C0393593
Disease: Dystonia Disorders
Dystonia Disorders 		group Nervous System Diseases Disease or Syndrome 167 37 0.400 None 0.976 207 7 1991 2019
CUI: C0013423
Disease: Dystonia Musculorum Deformans
Dystonia Musculorum Deformans 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 26 1 0.400 None 0.983 60 1990 2015
CUI: C0752203
Disease: Dystonia, Primary
Dystonia, Primary 		disease Nervous System Diseases Disease or Syndrome 19 5 0.400 None 0.963 27 2 1997 2019
CUI: C1834570
Disease: Myoclonic dystonia
Myoclonic dystonia 		disease Nervous System Diseases Disease or Syndrome 19 29 0.390 None 1.000 9 2002 2017
CUI: C0752207
Disease: Familial Dystonia
Familial Dystonia 		disease Nervous System Diseases Disease or Syndrome 15 0.370 None 1.000 8 2008 2018
CUI: C0752202
Disease: Childhood Onset Dystonias
Childhood Onset Dystonias 		disease Nervous System Diseases Disease or Syndrome 13 8 0.320 None 1.000 3 2008 2018
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: C0752205
Disease: Dystonia, Secondary
Dystonia, Secondary 		disease Nervous System Diseases Disease or Syndrome 10 0.310 None 1.000 2 2004 2013
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: C0221480
Disease: Recurrent depression
Recurrent depression 		disease Mental Disorders Mental or Behavioral Dysfunction 19 12 0.310 None 1.000 1 2004 2004
CUI: C0751093
Disease: Dystonia, Limb
Dystonia, Limb 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 42 9 0.300 None 1.000 3 2010 2013
CUI: C0393610
Disease: Dystonia, Diurnal
Dystonia, Diurnal 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 18 0.300 None 1.000 3 2010 2013
CUI: C0393588
Disease: Dystonia, Paroxysmal
Dystonia, Paroxysmal 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 28 4 0.300 None 1.000 3 2010 2013
CUI: C4722327
Disease: PROSTATE CANCER, HEREDITARY, 1
PROSTATE CANCER, HEREDITARY, 1 		disease Neoplasms; Male Urogenital Diseases Neoplastic Process 62 2 0.300 None 1.000 1 2018 2018
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: 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: 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