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: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		disease Cardiovascular Diseases Disease or Syndrome 1708 1577 0.010 None 1.000 1 2008 2008
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: C0265219
Disease: Miller Dieker syndrome
Miller Dieker syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 182 9 0.010 None 1.000 1 2017 2017
CUI: C0262405
Disease: Cerebral dysfunction
Cerebral dysfunction 		disease Nervous System Diseases Disease or Syndrome 45 0.010 None 1.000 1 1998 1998
CUI: C0406775
Disease: Symmetrical dyschromatosis of extremities
Symmetrical dyschromatosis of extremities 		disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Congenital Abnormality 22 13 0.010 None < 0.001 1 2000 2000
CUI: C0235031
Disease: Neurologic Symptoms
Neurologic Symptoms 		group Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 233 30 0.010 None < 0.001 1 2017 2017
CUI: C0234985
Disease: Mental deterioration
Mental deterioration 		phenotype Mental Disorders Mental or Behavioral Dysfunction 508 121 0.010 None 1.000 1 2006 2006
CUI: C0400822
Disease: Colitis, Lymphocytic
Colitis, Lymphocytic 		disease Digestive System Diseases Disease or Syndrome 25 0.010 None 1.000 1 2005 2005
CUI: C0221170
Disease: Muscular stiffness
Muscular stiffness 		phenotype Nervous System Diseases Sign or Symptom 92 6 0.010 None 1.000 1 2005 2005
CUI: C0154409
Disease: Recurrent major depressive episodes
Recurrent major depressive episodes 		disease Mental Disorders Mental or Behavioral Dysfunction 36 9 0.010 None 1.000 1 2004 2004
CUI: C0085583
Disease: Choreoathetosis
Choreoathetosis 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 94 9 0.010 None 1.000 1 2003 2003
CUI: C0040517
Disease: Gilles de la Tourette syndrome
Gilles de la Tourette syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders Disease or Syndrome 177 63 0.010 None 1.000 1 2007 2007
CUI: C0038379
Disease: Strabismus
Strabismus 		disease Eye Diseases; Nervous System Diseases Disease or Syndrome 716 89 0.010 None 1.000 1 2017 2017
CUI: C4275179
Disease: Young onset Parkinson disease
Young onset Parkinson disease 		disease Nervous System Diseases Disease or Syndrome 51 32 0.010 None 1.000 1 2009 2009
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		phenotype Mental Disorders Mental or Behavioral Dysfunction 584 68 0.010 None 1.000 1 2017 2017
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease Mental or Behavioral Dysfunction 1825 553 0.010 None 1.000 1 2017 2017
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: C1857276
Disease: Trichohepatoenteric Syndrome
Trichohepatoenteric Syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases Disease or Syndrome 424 28 0.010 None 1.000 1 2017 2017
CUI: C1851920
Disease: Dopa-Responsive Dystonia
Dopa-Responsive Dystonia 		disease Nervous System Diseases Disease or Syndrome 28 33 0.010 None 1.000 1 1999 1999
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: 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: C2748208
Disease: Executive dysfunction
Executive dysfunction 		disease Mental or Behavioral Dysfunction 33 3 0.010 None 1.000 1 2017 2017
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: C3267131
Disease: Psychogenic movement disorder
Psychogenic movement disorder 		disease Disease or Syndrome 1 0.010 None 1.000 1 2002 2002
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME 		group Hemic and Lymphatic Diseases Neoplastic Process 1033 95 0.010 None 1.000 1 2017 2017