TBP, TATA-box binding protein, 6908

N. diseases: 158; N. variants: 3
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.
Impaired pursuit initiation and maintenance
phenotype Finding 2 0.100 None 0
CUI: C4023053
Disease: Cerebellar Purkinje layer atrophy
Cerebellar Purkinje layer atrophy
phenotype Anatomical Abnormality 2 0.100 None 0
CUI: C1833297
Disease: Frontal release signs
Frontal release signs
phenotype Nervous System Diseases Finding 3 0.100 None 0
CUI: C1370723
Disease: Stromal sarcoma
Stromal sarcoma
disease Neoplastic Process 7 0.010 None 1.000 1 2012 2012
CUI: C0393584
Disease: Benign Hereditary Chorea
Benign Hereditary Chorea
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 13 7 0.010 None 1.000 1 2014 2014
CUI: C0041325
Disease: Peritonitis, Tuberculous
Peritonitis, Tuberculous
disease Digestive System Diseases; Infections Disease or Syndrome 14 2 0.010 None 1.000 1 2017 2017
CUI: C0240341
Disease: Micrographia
Micrographia
phenotype Finding 14 0.100 None 0
CUI: C1846865
Disease: Substantia nigra gliosis
Substantia nigra gliosis
phenotype Pathological Conditions, Signs and Symptoms Finding 14 0.100 None 0
Generalized cerebral atrophy/hypoplasia
disease Disease or Syndrome 14 2 0.100 None 0
CUI: C0240914
Disease: Romberg's sign positive
Romberg's sign positive
phenotype Finding 15 6 0.100 None 0
CUI: C3805715
Disease: Short stepped shuffling gait
Short stepped shuffling gait
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 16 0.100 None 0
CUI: C1853578
Disease: Neuroferritinopathy
Neuroferritinopathy
disease Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 17 5 0.010 None 1.000 1 2006 2006
CUI: C1847987
Disease: HUNTINGTON DISEASE-LIKE 2
HUNTINGTON DISEASE-LIKE 2
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders Disease or Syndrome 18 1 0.010 None 1.000 1 2008 2008
CUI: C0241700
Disease: Voice Fatigue
Voice Fatigue
phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Finding 20 0.100 None 0
CUI: C0338455
Disease: Dementia of frontal lobe type
Dementia of frontal lobe type
disease Nervous System Diseases; Mental Disorders Disease or Syndrome 20 0.100 None 0
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 0.010 None 1.000 1 2004 2004
New Variant Creutzfeldt-Jakob Disease
disease Infections; Nervous System Diseases; Mental Disorders Disease or Syndrome 23 2 0.010 None 1.000 1 2004 2004
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 0.010 None 1.000 1 2004 2004
CUI: C0271390
Disease: Nystagmus, End-Position
Nystagmus, End-Position
disease Disease or Syndrome 26 2 0.100 None 0
CUI: C4316810
Disease: Writer's Cramp
Writer's Cramp
disease Nervous System Diseases Disease or Syndrome 26 3 0.100 None 0
Atrophy/Degeneration affecting the brainstem
disease Disease or Syndrome 27 2 0.100 None 0
CUI: C1846707
Disease: SPINOCEREBELLAR ATAXIA 17
SPINOCEREBELLAR ATAXIA 17
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 28 0.900 None 1.000 30 2003 2019
CUI: C0393576
Disease: Chorea Acanthocytosis Syndrome
Chorea Acanthocytosis Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 29 5 0.010 None 1.000 1 2014 2014
CUI: C0338113
Disease: Uterine Corpus Sarcoma
Uterine Corpus Sarcoma
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 30 0.010 None 1.000 1 2012 2012
CUI: C4302185
Disease: Atypical Parkinsonism
Atypical Parkinsonism
disease Nervous System Diseases Disease or Syndrome 30 6 0.010 None 1.000 1 2015 2015