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: C0025183
Disease: Meige Syndrome
Meige Syndrome 		disease Nervous System Diseases Disease or Syndrome 2 1 0.010 None 1.000 1 1 2011 2011
CUI: C0393604
Disease: Isolated blepharospasm
Isolated blepharospasm 		disease Eye Diseases Disease or Syndrome 2 0.010 None 1.000 1 2016 2016
CUI: C3554447
Disease: DYSTONIA 25
DYSTONIA 25 		disease Disease or Syndrome 2 8 0.010 None 1.000 1 2014 2014
CUI: C2875058
Disease: Familial torsion dystonia
Familial torsion dystonia 		disease Disease or Syndrome 3 0.200 None 1.000 1 2015 2015
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: C2242579
Disease: Lingual dystonia
Lingual dystonia 		phenotype Sign or Symptom 4 0.100 None 0
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 0.030 None 1.000 3 2010 2014
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: 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
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: C0752206
Disease: Dystonias, Sporadic
Dystonias, Sporadic 		disease Nervous System Diseases Disease or Syndrome 7 0.300 None 1.000 1 2013 2013
CUI: C0752208
Disease: Pseudodystonia
Pseudodystonia 		disease Nervous System Diseases Mental or Behavioral Dysfunction 7 0.300 None 1.000 1 2013 2013
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: 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: C4021812
Disease: Abnormality of the head
Abnormality of the head 		disease Anatomical Abnormality 9 0.100 None 0
CUI: C0752205
Disease: Dystonia, Secondary
Dystonia, Secondary 		disease Nervous System Diseases Disease or Syndrome 10 0.300 None 1.000 1 2013 2013
CUI: C4699184
Disease: Fuchs
Fuchs 		disease Disease or Syndrome 10 5 0.010 None 1.000 1 2011 2011
CUI: C1848954
Disease: Generalized dystonia
Generalized dystonia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 11 1 0.100 None 0
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: 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
CUI: C0266006
Disease: Pili torti-deafness syndrome
Pili torti-deafness syndrome 		disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 14 10 0.050 None 1.000 5 1999 2010
CUI: C1997740
Disease: Segmental dystonia
Segmental dystonia 		disease Nervous System Diseases Disease or Syndrome 15 9 0.030 None 1.000 3 2010 2015
CUI: C0752207
Disease: Familial Dystonia
Familial Dystonia 		disease Nervous System Diseases Disease or Syndrome 15 0.310 None 1.000 2 2011 2013
CUI: C1839130
Disease: Dystonia 3, Torsion, X-Linked
Dystonia 3, Torsion, X-Linked 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 15 1 0.020 None 1.000 2 2010 2011