DGUOK, deoxyguanosine kinase, 1716

N. diseases: 112; N. variants: 19
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: C4310735
Disease: PORTAL HYPERTENSION, NONCIRRHOTIC
PORTAL HYPERTENSION, NONCIRRHOTIC 		0.700 GeneticVariation disease UNIPROT Recurrent recessive mutation in deoxyguanosine kinase causes idiopathic noncirrhotic portal hypertension. 26874653 2016
CUI: C4310735
Disease: PORTAL HYPERTENSION, NONCIRRHOTIC
PORTAL HYPERTENSION, NONCIRRHOTIC 		0.700 Biomarker disease GENOMICS_ENGLAND Recurrent recessive mutation in deoxyguanosine kinase causes idiopathic noncirrhotic portal hypertension. 26874653 2016
CUI: C4310735
Disease: PORTAL HYPERTENSION, NONCIRRHOTIC
PORTAL HYPERTENSION, NONCIRRHOTIC 		0.700 GermlineCausalMutation disease ORPHANET Recurrent recessive mutation in deoxyguanosine kinase causes idiopathic noncirrhotic portal hypertension. 26874653 2016
CUI: C4310735
Disease: PORTAL HYPERTENSION, NONCIRRHOTIC
PORTAL HYPERTENSION, NONCIRRHOTIC 		0.700 Biomarker disease GENOMICS_ENGLAND Recurrent recessive mutation in deoxyguanosine kinase causes idiopathic noncirrhotic portal hypertension. 26874653 2016
CUI: C4310735
Disease: PORTAL HYPERTENSION, NONCIRRHOTIC
PORTAL HYPERTENSION, NONCIRRHOTIC 		0.700 GeneticVariation disease CLINVAR Recurrent recessive mutation in deoxyguanosine kinase causes idiopathic noncirrhotic portal hypertension. 26874653 2016
CUI: C4310733
Disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 4
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 4 		0.700 GeneticVariation disease UNIPROT Next-generation sequencing reveals DGUOK mutations in adult patients with mitochondrial DNA multiple deletions. 23043144 2012
CUI: C4310733
Disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 4
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 4 		0.700 GermlineCausalMutation disease ORPHANET Next-generation sequencing reveals DGUOK mutations in adult patients with mitochondrial DNA multiple deletions. 23043144 2012
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: C4310735
Disease: PORTAL HYPERTENSION, NONCIRRHOTIC
PORTAL HYPERTENSION, NONCIRRHOTIC 		0.700 GeneticVariation disease UNIPROT Kinetic properties of mutant deoxyguanosine kinase in a case of reversible hepatic mtDNA depletion. 17073823 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: C4310735
Disease: PORTAL HYPERTENSION, NONCIRRHOTIC
PORTAL HYPERTENSION, NONCIRRHOTIC 		0.700 Biomarker disease GENOMICS_ENGLAND New DGK gene mutations in the hepatocerebral form of mitochondrial DNA depletion syndrome. 15883261 2005
CUI: C4310735
Disease: PORTAL HYPERTENSION, NONCIRRHOTIC
PORTAL HYPERTENSION, NONCIRRHOTIC 		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
CUI: C4310733
Disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 4
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 4 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C4310733
Disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 4
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 4 		0.700 CausalMutation disease CLINVAR
CUI: C4310733
Disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 4
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 4 		0.700 Biomarker disease CTD_human
CUI: C4310735
Disease: PORTAL HYPERTENSION, NONCIRRHOTIC
PORTAL HYPERTENSION, NONCIRRHOTIC 		0.700 CausalMutation disease CLINVAR
CUI: C3711385
Disease: Deoxyguanosine Kinase Deficiency
Deoxyguanosine Kinase Deficiency 		0.530 Biomarker disease RGD A Screen Using iPSC-Derived Hepatocytes Reveals NAD+ as a Potential Treatment for mtDNA Depletion Syndrome. 30404003 2018