Source: HPO

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 7084
Gene Symbol: TK2
TK2 		thymidine kinase 2 0.585 0.615 3.9E-07
CUI: C0026848
Disease: Myopathy
Myopathy 		group 0.200 None 1.000 0 0 2001 2019
Entrez Id: 7084
Gene Symbol: TK2
TK2 		thymidine kinase 2 0.585 0.615 3.9E-07
CUI: C0162670
Disease: Mitochondrial Myopathies
Mitochondrial Myopathies 		group 0.190 None 1.000 0 0 2003 2019
Entrez Id: 7084
Gene Symbol: TK2
TK2 		thymidine kinase 2 0.585 0.615 3.9E-07
CUI: C0162674
Disease: Chronic progressive external ophthalmoplegia
Chronic progressive external ophthalmoplegia 		disease 0.120 None 1.000 0 0 2003 2012
Entrez Id: 7084
Gene Symbol: TK2
TK2 		thymidine kinase 2 0.585 0.615 3.9E-07
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		disease 0.110 None 1.000 0 0 2018 2018
Entrez Id: 7084
Gene Symbol: TK2
TK2 		thymidine kinase 2 0.585 0.615 3.9E-07
CUI: C1145670
Disease: Respiratory Failure
Respiratory Failure 		disease 0.110 None 1.000 0 0 2019 2019
Entrez Id: 7084
Gene Symbol: TK2
TK2 		thymidine kinase 2 0.585 0.615 3.9E-07
CUI: C0231528
Disease: Myalgia
Myalgia 		phenotype 0.110 None 1.000 0 0 2007 2007
Entrez Id: 7084
Gene Symbol: TK2
TK2 		thymidine kinase 2 0.585 0.615 3.9E-07
CUI: C0026847
Disease: Spinal Muscular Atrophy
Spinal Muscular Atrophy 		disease 0.110 None 1.000 0 0 2002 2002
Entrez Id: 7084
Gene Symbol: TK2
TK2 		thymidine kinase 2 0.585 0.615 3.9E-07
CUI: C1836440
Disease: Increased serum lactate
Increased serum lactate 		phenotype 0.100 None 0 0
Entrez Id: 7084
Gene Symbol: TK2
TK2 		thymidine kinase 2 0.585 0.615 3.9E-07
CUI: C1836830
Disease: Developmental regression
Developmental regression 		disease 0.100 None 0 0
Entrez Id: 7084
Gene Symbol: TK2
TK2 		thymidine kinase 2 0.585 0.615 3.9E-07
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay 		disease 0.100 None 0 0
Entrez Id: 7084
Gene Symbol: TK2
TK2 		thymidine kinase 2 0.585 0.615 3.9E-07
CUI: C1842587
Disease: Sensory axonal neuropathy
Sensory axonal neuropathy 		phenotype 0.100 None 0 0
Entrez Id: 7084
Gene Symbol: TK2
TK2 		thymidine kinase 2 0.585 0.615 3.9E-07
CUI: C1846149
Disease: Intellectual disability, progressive
Intellectual disability, progressive 		phenotype 0.100 None 0 0
Entrez Id: 7084
Gene Symbol: TK2
TK2 		thymidine kinase 2 0.585 0.615 3.9E-07
CUI: C1846868
Disease: Parkinsonism with favorable response to dopaminergic medication
Parkinsonism with favorable response to dopaminergic medication 		phenotype 0.100 None 0 0
Entrez Id: 7084
Gene Symbol: TK2
TK2 		thymidine kinase 2 0.585 0.615 3.9E-07
CUI: C1847584
Disease: Distal sensory impairment
Distal sensory impairment 		phenotype 0.100 None 0 0
Entrez Id: 7084
Gene Symbol: TK2
TK2 		thymidine kinase 2 0.585 0.615 3.9E-07
CUI: C1854301
Disease: Motor delay
Motor delay 		phenotype 0.100 None 0 0
Entrez Id: 7084
Gene Symbol: TK2
TK2 		thymidine kinase 2 0.585 0.615 3.9E-07
CUI: C1836156
Disease: Progressive proximal muscle weakness
Progressive proximal muscle weakness 		phenotype 0.100 None 0 0
Entrez Id: 7084
Gene Symbol: TK2
TK2 		thymidine kinase 2 0.585 0.615 3.9E-07
CUI: C1836003
Disease: Facial diplegia
Facial diplegia 		phenotype 0.100 None 0 0
Entrez Id: 7084
Gene Symbol: TK2
TK2 		thymidine kinase 2 0.585 0.615 3.9E-07
CUI: C0587246
Disease: Muscle weakness of limb
Muscle weakness of limb 		phenotype 0.100 None 0 0
Entrez Id: 7084
Gene Symbol: TK2
TK2 		thymidine kinase 2 0.585 0.615 3.9E-07
CUI: C0694550
Disease: Recurrent pneumonia
Recurrent pneumonia 		disease 0.100 None 0 0
Entrez Id: 7084
Gene Symbol: TK2
TK2 		thymidine kinase 2 0.585 0.615 3.9E-07
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		disease 0.100 None 0 0
Entrez Id: 7084
Gene Symbol: TK2
TK2 		thymidine kinase 2 0.585 0.615 3.9E-07
CUI: C0746674
Disease: Generalized muscle weakness
Generalized muscle weakness 		phenotype 0.100 None 0 0
Entrez Id: 7084
Gene Symbol: TK2
TK2 		thymidine kinase 2 0.585 0.615 3.9E-07
CUI: C0858618
Disease: Dyschromatopsia
Dyschromatopsia 		disease 0.100 None 0 0
Entrez Id: 7084
Gene Symbol: TK2
TK2 		thymidine kinase 2 0.585 0.615 3.9E-07
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		group 0.100 None 0 0
Entrez Id: 7084
Gene Symbol: TK2
TK2 		thymidine kinase 2 0.585 0.615 3.9E-07
CUI: C0948163
Disease: Leukoaraiosis
Leukoaraiosis 		phenotype 0.100 None 0 0
Entrez Id: 7084
Gene Symbol: TK2
TK2 		thymidine kinase 2 0.585 0.615 3.9E-07
CUI: C1384666
Disease: hearing impairment
hearing impairment 		phenotype 0.100 None 0 0