TTBK2, tau tubulin kinase 2, 146057

N. diseases: 46; N. variants: 4
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: C0151889
Disease: Hyperreflexia
Hyperreflexia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 539 19 0.100 None 0
CUI: C0271385
Disease: Horizontal Nystagmus
Horizontal Nystagmus
disease Eye Diseases; Nervous System Diseases Disease or Syndrome 48 11 0.100 None 0
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease Eye Diseases; Nervous System Diseases Disease or Syndrome 833 95 0.100 None 0
CUI: C0271386
Disease: Vertical Nystagmus
Vertical Nystagmus
disease Eye Diseases; Nervous System Diseases Disease or Syndrome 9 2 0.100 None 0
CUI: C1836150
Disease: Gait imbalance
Gait imbalance
phenotype Finding 57 24 0.100 None 0
CUI: C0311394
Disease: Difficulty walking
Difficulty walking
phenotype Pathological Conditions, Signs and Symptoms Finding 224 30 0.100 None 0
CUI: C0149925
Disease: Small cell carcinoma of lung
Small cell carcinoma of lung
disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 972 125 0.300 None 0
CUI: C0013421
Disease: Dystonia
Dystonia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 453 97 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: C0011168
Disease: Deglutition Disorders
Deglutition Disorders
group Digestive System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 389 50 0.100 None 0
CUI: C1853558
Disease: Jerky ocular pursuit movements
Jerky ocular pursuit movements
phenotype Finding 5 0.100 None 0
CUI: C4721453
Disease: Peripheral Nervous System Diseases
Peripheral Nervous System Diseases
group Nervous System Diseases Disease or Syndrome 549 69 0.100 None 0
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0
phenotype Finding 779 0.100 None 0
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0
phenotype Finding 779 0.100 None 0
CUI: C0598589
Disease: Inherited neuropathies
Inherited neuropathies
disease Nervous System Diseases Disease or Syndrome 104 4 0.300 None 0
CUI: C0234132
Disease: Pyramidal sign
Pyramidal sign
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 155 10 0.100 None 0
CUI: C1858351
Disease: SPINOCEREBELLAR ATAXIA 11
SPINOCEREBELLAR ATAXIA 11
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 2 2 0.660 None 1.000 6 2 2007 2019
CUI: C0087012
Disease: Ataxia, Spinocerebellar
Ataxia, Spinocerebellar
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 156 4 0.340 None 1.000 4 2007 2017
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
disease Nervous System Diseases; Mental Disorders Disease or Syndrome 3397 1843 0.020 None 1.000 2 2018 2019
CUI: C1305855
Disease: Body mass index
Body mass index
phenotype Clinical Attribute 1014 2689 0.100 None 1.000 1 1 2019 2019
CUI: C0752122
Disease: Spinocerebellar Ataxia Type 4
Spinocerebellar Ataxia Type 4
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 36 0.300 None 1.000 1 2007 2007
CUI: C0949664
Disease: Tauopathies
Tauopathies
group Nervous System Diseases Disease or Syndrome 245 43 0.010 None 1.000 1 2018 2018
CUI: C0752123
Disease: Spinocerebellar Ataxia Type 5
Spinocerebellar Ataxia Type 5
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 48 7 0.300 None 1.000 1 2007 2007
Spinocerebellar Ataxia Type 6 (disorder)
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 64 11 0.300 None 1.000 1 2007 2007
CUI: C0752125
Disease: Spinocerebellar Ataxia Type 7
Spinocerebellar Ataxia Type 7
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 78 2 0.300 None 1.000 1 2007 2007