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: 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: C0026650
Disease: Movement Disorders
Movement Disorders 		group Nervous System Diseases Disease or Syndrome 362 247 0.100 None 1.000 17 2002 2020
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: 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: 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: C0027765
Disease: nervous system disorder
nervous system disorder 		group Nervous System Diseases Disease or Syndrome 977 39 0.060 None 1.000 6 2004 2019
CUI: C0007570
Disease: Celiac Disease
Celiac Disease 		disease Digestive System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 527 263 0.040 None 1.000 4 2003 2019
CUI: C0424295
Disease: Hyperactive behavior
Hyperactive behavior 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction 1263 112 0.040 None 1.000 4 1998 2019
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 198 33 0.020 None 1.000 2 2017 2019
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: 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: C0024408
Disease: Machado-Joseph Disease
Machado-Joseph Disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 135 12 0.010 None 1.000 1 2018 2018
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: C0013384
Disease: Dyskinetic syndrome
Dyskinetic syndrome 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 316 42 0.010 None 1.000 1 2018 2018
CUI: C2931456
Disease: Prostate cancer, familial
Prostate cancer, familial 		disease Neoplasms; Male Urogenital Diseases Neoplastic Process 116 25 0.300 None 1.000 1 2018 2018
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		disease Neoplasms; Male Urogenital Diseases Neoplastic Process 4388 1168 0.100 None 1.000 1 1 2018 2018
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: 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: 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: 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: C1834570
Disease: Myoclonic dystonia
Myoclonic dystonia 		disease Nervous System Diseases Disease or Syndrome 19 29 0.390 None 1.000 9 2002 2017
CUI: C0040822
Disease: Tremor
Tremor 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 528 52 0.120 None 1.000 2 2011 2017
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		disease Mental Disorders Mental or Behavioral Dysfunction 1630 348 0.020 None 0.500 2 2006 2017
CUI: C0009241
Disease: Cognition Disorders
Cognition Disorders 		group Mental Disorders Mental or Behavioral Dysfunction 607 47 0.010 None < 0.001 1 2017 2017