TK2, thymidine kinase 2, 7084

N. diseases: 143; N. variants: 29
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.
MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE)
disease Disease or Syndrome 1 28 0.700 None 1.000 10 28 2001 2016
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 3
disease Disease or Syndrome 1 3 0.700 strong 1.000 1 3 2012 2012
Mitochondrial DNA Depletion Syndrome, Myopathic Form
disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 1 0.500 limited 1.000 2 2008 2011
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE
disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 4 0.310 None 1.000 1 2012 2012
CUI: C0342782
Disease: Depletion of mitochondrial DNA
Depletion of mitochondrial DNA
disease Disease or Syndrome 36 7 0.200 None 1.000 19 2 2001 2015
CUI: C0026848
Disease: Myopathy
Myopathy
group Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 634 166 0.200 None 1.000 12 2 2001 2019
CUI: C0162670
Disease: Mitochondrial Myopathies
Mitochondrial Myopathies
group Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 121 19 0.190 None 1.000 9 1 2003 2019
Chronic progressive external ophthalmoplegia
disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 50 13 0.120 None 1.000 2 1 2003 2012
CUI: C0026847
Disease: Spinal Muscular Atrophy
Spinal Muscular Atrophy
disease Nervous System Diseases Disease or Syndrome 320 33 0.110 None 1.000 1 2002 2002
CUI: C0231528
Disease: Myalgia
Myalgia
phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Sign or Symptom 226 22 0.110 None 1.000 1 2007 2007
CUI: C1145670
Disease: Respiratory Failure
Respiratory Failure
disease Respiratory Tract Diseases Disease or Syndrome 319 23 0.110 None 1.000 1 2019 2019
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis
disease Eye Diseases Disease or Syndrome 595 57 0.110 None 1.000 1 2018 2018
CUI: C0587246
Disease: Muscle weakness of limb
Muscle weakness of limb
phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Finding 42 3 0.100 None 0
Loss of ability to walk in early childhood
phenotype Finding 4 1 0.100 None 0
CUI: C0476273
Disease: Respiratory distress
Respiratory distress
phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Sign or Symptom 259 16 0.100 None 0
CUI: C1836003
Disease: Facial diplegia
Facial diplegia
phenotype Infections; Nervous System Diseases; Stomatognathic Diseases Finding 42 4 0.100 None 0
CUI: C0424448
Disease: Mask-like facies
Mask-like facies
phenotype Nervous System Diseases Finding 64 2 0.100 None 0
Progressive proximal muscle weakness
phenotype Finding 28 3 0.100 None 0
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
group Cardiovascular Diseases Disease or Syndrome 925 294 0.100 None 0
CUI: C1836440
Disease: Increased serum lactate
Increased serum lactate
phenotype Nutritional and Metabolic Diseases Finding 169 2 0.100 None 0
CUI: C1866284
Disease: Motor deterioration
Motor deterioration
phenotype Mental Disorders Finding 14 1 0.100 None 0
CUI: C1836830
Disease: Developmental regression
Developmental regression
disease Mental Disorders Disease or Syndrome 333 80 0.100 None 0
CUI: C0518656
Disease: Chronic fatigue
Chronic fatigue
phenotype Pathological Conditions, Signs and Symptoms Finding 17 2 0.100 None 0
CUI: C1389113
Disease: Generalized amyotrophy
Generalized amyotrophy
disease Disease or Syndrome 56 6 0.100 None 0
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 740 337 0.100 None 0