TK2, thymidine kinase 2, 7084

N. diseases: 143; N. variants: 29
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3149750
Disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE)
MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE) 		0.700 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
CUI: C3149750
Disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE)
MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE) 		0.700 Biomarker disease GENOMICS_ENGLAND Rhabdomyolysis: a genetic perspective. 25929793 2015
CUI: C3149750
Disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE)
MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE) 		0.700 GeneticVariation disease UNIPROT Clinical application of whole exome sequencing reveals a novel compound heterozygous TK2-mutation in two brothers with rapidly progressive combined muscle-brain atrophy, axonal neuropathy, and status epilepticus. 25446393 2015
CUI: C3149750
Disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE)
MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE) 		0.700 Biomarker disease GENOMICS_ENGLAND Thymidine kinase 2 mutations in autosomal recessive progressive external ophthalmoplegia with multiple mitochondrial DNA deletions. 21937588 2012
CUI: C3149750
Disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE)
MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE) 		0.700 CausalMutation disease CLINVAR Thymidine kinase 2 mutations in autosomal recessive progressive external ophthalmoplegia with multiple mitochondrial DNA deletions. 21937588 2012
CUI: C3149750
Disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE)
MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE) 		0.700 CausalMutation disease CLINVAR Adult cases of mitochondrial DNA depletion due to TK2 defect: an expanding spectrum. 22345218 2012
CUI: C4310734
Disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 3
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 3 		0.700 GeneticVariation disease UNIPROT Thymidine kinase 2 mutations in autosomal recessive progressive external ophthalmoplegia with multiple mitochondrial DNA deletions. 21937588 2012
CUI: C4310734
Disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 3
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 3 		0.700 Biomarker disease GENOMICS_ENGLAND Thymidine kinase 2 mutations in autosomal recessive progressive external ophthalmoplegia with multiple mitochondrial DNA deletions. 21937588 2012
CUI: C3149750
Disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE)
MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE) 		0.700 GeneticVariation disease UNIPROT Molecular insight into mitochondrial DNA depletion syndrome in two patients with novel mutations in the deoxyguanosine kinase and thymidine kinase 2 genes. 15639197 2005
CUI: C3149750
Disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE)
MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE) 		0.700 GeneticVariation disease UNIPROT Novel mutations in the thymidine kinase 2 gene (TK2) associated with fatal mitochondrial myopathy and mitochondrial DNA depletion. 15907288 2005
CUI: C3149750
Disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE)
MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE) 		0.700 CausalMutation disease CLINVAR Novel mutations in the thymidine kinase 2 gene (TK2) associated with fatal mitochondrial myopathy and mitochondrial DNA depletion. 15907288 2005
CUI: C3149750
Disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE)
MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE) 		0.700 CausalMutation disease CLINVAR Kinetic properties of mutant human thymidine kinase 2 suggest a mechanism for mitochondrial DNA depletion myopathy. 12493767 2003
CUI: C3149750
Disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE)
MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE) 		0.700 GeneticVariation disease UNIPROT Mitochondrial DNA depletion: mutations in thymidine kinase gene with myopathy and SMA. 12391347 2002
CUI: C3149750
Disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE)
MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE) 		0.700 CausalMutation disease CLINVAR Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy. 11687801 2001
CUI: C3149750
Disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE)
MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE) 		0.700 GeneticVariation disease UNIPROT Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy. 11687801 2001
CUI: C3149750
Disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE)
MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE) 		0.700 Biomarker disease CTD_human
CUI: C3149750
Disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE)
MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE) 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C3149750
Disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE)
MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE) 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C4310734
Disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 3
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 3 		0.700 Biomarker disease CTD_human
CUI: C4310734
Disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 3
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 3 		0.700 CausalMutation disease CLINVAR
CUI: C3501891
Disease: Mitochondrial DNA Depletion Syndrome, Myopathic Form
Mitochondrial DNA Depletion Syndrome, Myopathic Form 		0.500 Biomarker disease MGD Onset and organ specificity of Tk2 deficiency depends on Tk1 down-regulation and transcriptional compensation. 20940150 2011
CUI: C3501891
Disease: Mitochondrial DNA Depletion Syndrome, Myopathic Form
Mitochondrial DNA Depletion Syndrome, Myopathic Form 		0.500 Biomarker disease MGD Thymidine kinase 2 (H126N) knockin mice show the essential role of balanced deoxynucleotide pools for mitochondrial DNA maintenance. 18467430 2008
CUI: C3501891
Disease: Mitochondrial DNA Depletion Syndrome, Myopathic Form
Mitochondrial DNA Depletion Syndrome, Myopathic Form 		0.500 Biomarker disease GENOMICS_ENGLAND
CUI: C1850303
Disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 		0.310 GermlineCausalMutation disease ORPHANET Thymidine kinase 2 mutations in autosomal recessive progressive external ophthalmoplegia with multiple mitochondrial DNA deletions. 21937588 2012
CUI: C1850303
Disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 		0.310 GeneticVariation disease BEFREE Thymidine kinase 2 mutations in autosomal recessive progressive external ophthalmoplegia with multiple mitochondrial DNA deletions. 21937588 2012