DGUOK, deoxyguanosine kinase, 1716

N. diseases: 112; N. variants: 19
Disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE) ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3151513
Disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE)
MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE) 		0.700 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
CUI: C3151513
Disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE)
MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE) 		0.700 Biomarker disease GENOMICS_ENGLAND Mitochondrial hepatopathies: advances in genetics and pathogenesis. 17538929 2007
CUI: C3151513
Disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE)
MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE) 		0.700 Biomarker disease GENOMICS_ENGLAND New DGK gene mutations in the hepatocerebral form of mitochondrial DNA depletion syndrome. 15883261 2005
CUI: C3151513
Disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE)
MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL 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: C3151513
Disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE)
MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE) 		0.700 Biomarker disease GENOMICS_ENGLAND New DGK gene mutations in the hepatocerebral form of mitochondrial DNA depletion syndrome. 15883261 2005
CUI: C3151513
Disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE)
MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE) 		0.700 GeneticVariation disease UNIPROT Mitochondrial DNA depletion and dGK gene mutations. 12205643 2002
CUI: C3151513
Disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE)
MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE) 		0.700 GeneticVariation disease CLINVAR The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA. 11687800 2001
CUI: C3151513
Disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE)
MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE) 		0.700 GeneticVariation disease CLINVAR Molecular mechanisms in mitochondrial DNA depletion syndrome. 9175742 1997
CUI: C3151513
Disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE)
MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE) 		0.700 Biomarker disease CTD_human
CUI: C3151513
Disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE)
MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE) 		0.700 CausalMutation disease CLINVAR