THAP1, THAP domain containing 1, 55145

N. diseases: 51; N. variants: 27
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 24 0.980 None 1.000 34 24 2009 2019
CUI: C0013421
Disease: Dystonia
Dystonia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 453 97 0.600 None 0.964 55 2 1999 2019
CUI: C0393598
Disease: Idiopathic familial dystonia
Idiopathic familial dystonia
disease Nervous System Diseases Disease or Syndrome 9 0.500 None 1.000 2 2013 2015
CUI: C0393593
Disease: Dystonia Disorders
Dystonia Disorders
group Nervous System Diseases Disease or Syndrome 167 37 0.400 None 0.963 54 2 1999 2019
CUI: C0752203
Disease: Dystonia, Primary
Dystonia, Primary
disease Nervous System Diseases Disease or Syndrome 19 5 0.400 None 1.000 16 2009 2016
CUI: C4316810
Disease: Writer's Cramp
Writer's Cramp
disease Nervous System Diseases Disease or Syndrome 26 3 0.400 None 1.000 1 2013 2013
CUI: C0751093
Disease: Dystonia, Limb
Dystonia, Limb
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 42 9 0.400 None 1.000 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 26 1 0.390 None 1.000 10 1997 2015
CUI: C0743332
Disease: Focal Dystonia
Focal Dystonia
disease Nervous System Diseases Disease or Syndrome 21 8 0.320 None 1.000 3 2002 2016
CUI: C0752202
Disease: Childhood Onset Dystonias
Childhood Onset Dystonias
disease Nervous System Diseases Disease or Syndrome 13 8 0.310 None 1.000 2 2013 2017
CUI: C0752207
Disease: Familial Dystonia
Familial Dystonia
disease Nervous System Diseases Disease or Syndrome 15 0.310 None 1.000 2 2011 2013
CUI: C0752208
Disease: Pseudodystonia
Pseudodystonia
disease Nervous System Diseases Mental or Behavioral Dysfunction 7 0.300 None 1.000 1 2013 2013
Adult-Onset Idiopathic Focal Dystonias
disease Nervous System Diseases Disease or Syndrome 7 0.300 None 1.000 1 2013 2013
CUI: C0752206
Disease: Dystonias, Sporadic
Dystonias, Sporadic
disease Nervous System Diseases Disease or Syndrome 7 0.300 None 1.000 1 2013 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 1 2013 2013
Adult-Onset Idiopathic Torsion Dystonias
disease Nervous System Diseases Disease or Syndrome 7 0.300 None 1.000 1 2013 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 1 2013 2013
CUI: C0752205
Disease: Dystonia, Secondary
Dystonia, Secondary
disease Nervous System Diseases Disease or Syndrome 10 0.300 None 1.000 1 2013 2013
Autosomal Recessive Familial Dystonia
disease Nervous System Diseases Disease or Syndrome 7 0.300 None 1.000 1 2013 2013
Autosomal Dominant Familial Dystonia
disease Nervous System Diseases Disease or Syndrome 7 0.300 None 1.000 1 2013 2013
CUI: C0752197
Disease: Adult-Onset Dystonias
Adult-Onset Dystonias
disease Nervous System Diseases Disease or Syndrome 9 2 0.300 None 1.000 1 2013 2013
CUI: C2875058
Disease: Familial torsion dystonia
Familial torsion dystonia
disease Disease or Syndrome 3 0.200 None 1.000 1 2015 2015
CUI: C1963946
Disease: Laryngeal dystonia
Laryngeal dystonia
disease Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 17 2 0.140 None 1.000 4 2009 2016
CUI: C0005747
Disease: Blepharospasm
Blepharospasm
disease Eye Diseases Disease or Syndrome 44 6 0.120 None 1.000 2 2 2012 2017
CUI: C2242577
Disease: Oromandibular dystonia
Oromandibular dystonia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 13 0.120 None 1.000 2 2010 2013