THAP1, THAP domain containing 1, 55145

N. diseases: 45; N. variants: 17
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: 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 16 0.950 1.000 24 16 2009 2018
CUI: C0393598
Disease: Idiopathic familial dystonia
Idiopathic familial dystonia
disease Nervous System Diseases Disease or Syndrome 9 0.500 2 2013 2015
CUI: C0013421
Disease: Dystonia
Dystonia
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Sign or Symptom 250 31 0.400 0.957 48 1 1999 2018
CUI: C0393593
Disease: Dystonia Disorders
Dystonia Disorders
group Nervous System Diseases Disease or Syndrome 134 25 0.400 0.957 47 1 1999 2018
CUI: C0752203
Disease: Dystonia, Primary
Dystonia, Primary
disease Nervous System Diseases Disease or Syndrome 24 6 0.400 0.941 18 2005 2015
CUI: C0751093
Disease: Dystonia, Limb
Dystonia, Limb
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Sign or Symptom 25 0.400 1 2013 2013
CUI: C0013423
Disease: Dystonia Musculorum Deformans
Dystonia Musculorum Deformans
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 21 0.390 1.000 10 1997 2015
CUI: C0743332
Disease: Focal Dystonia
Focal Dystonia
disease Nervous System Diseases Disease or Syndrome 16 6 0.320 1.000 3 2002 2013
CUI: C0752197
Disease: Adult-Onset Dystonias
Adult-Onset Dystonias
disease Nervous System Diseases Disease or Syndrome 9 3 0.310 1.000 2 2012 2013
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
disease Nervous System Diseases Disease or Syndrome 1063 636 0.310 limited 1.000 2 2010 2012
CUI: C0752207
Disease: Familial Dystonia
Familial Dystonia
disease Nervous System Diseases Disease or Syndrome 15 0.310 < 0.001 2 2011 2013
Adult-Onset Idiopathic Focal Dystonias
disease Nervous System Diseases Disease or Syndrome 7 0.300 1 2013 2013
CUI: C0393610
Disease: Dystonia, Diurnal
Dystonia, Diurnal
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Sign or Symptom 18 0.300 1 2013 2013
Adult-Onset Idiopathic Torsion Dystonias
disease Nervous System Diseases Disease or Syndrome 7 0.300 1 2013 2013
CUI: C0393588
Disease: Dystonia, Paroxysmal
Dystonia, Paroxysmal
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Sign or Symptom 21 1 0.300 1 2013 2013
CUI: C0752202
Disease: Childhood Onset Dystonias
Childhood Onset Dystonias
disease Nervous System Diseases Disease or Syndrome 8 0.300 1 2013 2013
Autosomal Recessive Familial Dystonia
disease Nervous System Diseases Disease or Syndrome 7 0.300 1 2013 2013
CUI: C0752205
Disease: Dystonia, Secondary
Dystonia, Secondary
disease Nervous System Diseases Disease or Syndrome 9 0.300 1 2013 2013
CUI: C0752206
Disease: Dystonias, Sporadic
Dystonias, Sporadic
disease Nervous System Diseases Disease or Syndrome 8 0.300 1 2013 2013
CUI: C0752208
Disease: Pseudodystonia
Pseudodystonia
disease Nervous System Diseases Mental or Behavioral Dysfunction 7 0.300 1 2013 2013
Autosomal Dominant Familial Dystonia
disease Nervous System Diseases Disease or Syndrome 7 0.300 1 2013 2013
CUI: C4316810
Disease: Writer's Cramp
Writer's Cramp
disease Nervous System Diseases Disease or Syndrome 7 0.300 1 2013 2013
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group Behavior and Behavior Mechanisms; Mental Disorders; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 2502 53 0.300 limited 0
CUI: C2875058
Disease: Familial torsion dystonia
Familial torsion dystonia
disease Disease or Syndrome 3 0.200 1 2015 2015
CUI: C0949445
Disease: Cervical Dystonia
Cervical Dystonia
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Sign or Symptom 34 3 0.150 1.000 5 2001 2013