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: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		disease Disease or Syndrome 1075 276 0.030 None 1.000 3 2011 2014
CUI: C0426980
Disease: Motor symptoms
Motor symptoms 		phenotype Sign or Symptom 100 15 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: C3554447
Disease: DYSTONIA 25
DYSTONIA 25 		disease Disease or Syndrome 2 8 0.010 None 1.000 1 2014 2014
CUI: C4699184
Disease: Fuchs
Fuchs 		disease Disease or Syndrome 10 5 0.010 None 1.000 1 2011 2011
CUI: C2242579
Disease: Lingual dystonia
Lingual dystonia 		phenotype Sign or Symptom 4 0.100 None 0
CUI: C4021812
Disease: Abnormality of the head
Abnormality of the head 		disease Anatomical Abnormality 9 0.100 None 0
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: 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: 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: 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: 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: C0005747
Disease: Blepharospasm
Blepharospasm 		disease Eye Diseases Disease or Syndrome 44 6 0.120 None 1.000 2 2 2012 2017
CUI: C0393604
Disease: Isolated blepharospasm
Isolated blepharospasm 		disease Eye Diseases Disease or Syndrome 2 0.010 None 1.000 1 2016 2016
CUI: C0221163
Disease: Motor Disorders
Motor Disorders 		group Mental Disorders Disease or Syndrome 25 2 0.010 None 1.000 1 2017 2017
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma 		disease Neoplasms; Endocrine System Diseases Neoplastic Process 1348 204 0.010 None 1.000 1 2018 2018
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: 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: C0026650
Disease: Movement Disorders
Movement Disorders 		group Nervous System Diseases Disease or Syndrome 362 247 0.030 None 1.000 3 2011 2019
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: C1997740
Disease: Segmental dystonia
Segmental dystonia 		disease Nervous System Diseases Disease or Syndrome 15 9 0.030 None 1.000 3 2010 2015
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: 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