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: C2242579
Disease: Lingual dystonia
Lingual dystonia 		phenotype Sign or Symptom 4 0.100 None 0
CUI: C0013362
Disease: Dysarthria
Dysarthria 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction 487 54 0.100 None 0
CUI: C4021812
Disease: Abnormality of the head
Abnormality of the head 		disease Anatomical Abnormality 9 0.100 None 0
CUI: C1848954
Disease: Generalized dystonia
Generalized dystonia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 11 1 0.100 None 0
CUI: C1527344
Disease: Dysphonia
Dysphonia 		phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Mental or Behavioral Dysfunction 77 4 0.100 None 0
CUI: C0040485
Disease: Torticollis
Torticollis 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 55 10 0.100 None 0
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: 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: 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: C0752203
Disease: Dystonia, Primary
Dystonia, Primary 		disease Nervous System Diseases Disease or Syndrome 19 5 0.400 None 1.000 16 2009 2016
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 0.100 None 1.000 10 2007 2014
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: 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: 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: 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: C1997740
Disease: Segmental dystonia
Segmental dystonia 		disease Nervous System Diseases Disease or Syndrome 15 9 0.030 None 1.000 3 2010 2015
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		group Nervous System Diseases Disease or Syndrome 362 247 0.030 None 1.000 3 2011 2019
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		disease Disease or Syndrome 1075 276 0.030 None 1.000 3 2011 2014
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: C1961099
Disease: Precursor T-Cell Lymphoblastic Leukemia-Lymphoma
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 644 23 0.020 None 1.000 2 2013 2014
CUI: C0949445
Disease: Cervical Dystonia
Cervical Dystonia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 23 13 0.020 None 1.000 2 2011 2013
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
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
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