DGUOK, deoxyguanosine kinase, 1716

N. diseases: 112; N. variants: 19
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs763615602
rs763615602
Entrez Id: 1716
Gene Symbol: DGUOK
DGUOK
CUI: C4310735
Disease:
PORTAL HYPERTENSION, NONCIRRHOTIC 		G 0.800 GeneticVariation CLINVAR Recurrent recessive mutation in deoxyguanosine kinase causes idiopathic noncirrhotic portal hypertension. 26874653 2016
dbSNP: rs763615602
rs763615602
Entrez Id: 1716
Gene Symbol: DGUOK
DGUOK
CUI: C4310735
Disease:
PORTAL HYPERTENSION, NONCIRRHOTIC 		0.800 GeneticVariation UNIPROT Recurrent recessive mutation in deoxyguanosine kinase causes idiopathic noncirrhotic portal hypertension. 26874653 2016
dbSNP: rs144181978
rs144181978
Entrez Id: 1716
Gene Symbol: DGUOK
DGUOK
CUI: C4310733
Disease:
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 4 		0.800 GeneticVariation UNIPROT Next-generation sequencing reveals DGUOK mutations in adult patients with mitochondrial DNA multiple deletions. 23043144 2012
dbSNP: rs762550967
rs762550967
Entrez Id: 1716
Gene Symbol: DGUOK
DGUOK
CUI: C4310733
Disease:
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 4 		0.800 GeneticVariation UNIPROT Next-generation sequencing reveals DGUOK mutations in adult patients with mitochondrial DNA multiple deletions. 23043144 2012
dbSNP: rs763615602
rs763615602
Entrez Id: 1716
Gene Symbol: DGUOK
DGUOK
CUI: C4310735
Disease:
PORTAL HYPERTENSION, NONCIRRHOTIC 		0.800 GeneticVariation UNIPROT Kinetic properties of mutant deoxyguanosine kinase in a case of reversible hepatic mtDNA depletion. 17073823 2007
dbSNP: rs104893631
rs104893631
Entrez Id: 1716
Gene Symbol: DGUOK
DGUOK
CUI: C3151513
Disease:
MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE) 		0.800 GeneticVariation 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
dbSNP: rs104893632
rs104893632
Entrez Id: 1716
Gene Symbol: DGUOK
DGUOK
CUI: C3151513
Disease:
MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE) 		0.800 GeneticVariation 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
dbSNP: rs104893631
rs104893631
Entrez Id: 1716
Gene Symbol: DGUOK
DGUOK
CUI: C3151513
Disease:
MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE) 		0.800 GeneticVariation UNIPROT Mitochondrial DNA depletion and dGK gene mutations. 12205643 2002
dbSNP: rs104893632
rs104893632
Entrez Id: 1716
Gene Symbol: DGUOK
DGUOK
CUI: C3151513
Disease:
MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE) 		0.800 GeneticVariation UNIPROT Mitochondrial DNA depletion and dGK gene mutations. 12205643 2002
dbSNP: rs104893631
rs104893631
Entrez Id: 1716
Gene Symbol: DGUOK
DGUOK
CUI: C3151513
Disease:
MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE) 		A 0.800 CausalMutation CLINVAR
dbSNP: rs104893632
rs104893632
Entrez Id: 1716
Gene Symbol: DGUOK
DGUOK
CUI: C3151513
Disease:
MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE) 		A 0.800 CausalMutation CLINVAR
dbSNP: rs144181978
rs144181978
Entrez Id: 1716
Gene Symbol: DGUOK
DGUOK
CUI: C4310733
Disease:
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 4 		A 0.800 CausalMutation CLINVAR
dbSNP: rs762550967
rs762550967
Entrez Id: 1716
Gene Symbol: DGUOK
DGUOK
CUI: C4310733
Disease:
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 4 		A 0.800 CausalMutation CLINVAR
dbSNP: rs763615602
rs763615602
Entrez Id: 1716
Gene Symbol: DGUOK
DGUOK
CUI: C4310735
Disease:
PORTAL HYPERTENSION, NONCIRRHOTIC 		G 0.800 CausalMutation CLINVAR
dbSNP: rs587780587
rs587780587
Entrez Id: 1716
Gene Symbol: DGUOK
DGUOK
CUI: C3151513
Disease:
MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE) 		C 0.700 GeneticVariation CLINVAR The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA. 11687800 2001
dbSNP: rs587780587
rs587780587
Entrez Id: 1716
Gene Symbol: DGUOK
DGUOK
CUI: C3151513
Disease:
MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE) 		C 0.700 GeneticVariation CLINVAR Molecular mechanisms in mitochondrial DNA depletion syndrome. 9175742 1997
dbSNP: rs104893630
rs104893630
Entrez Id: 1716
Gene Symbol: DGUOK
DGUOK
CUI: C3151513
Disease:
MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE) 		T 0.700 CausalMutation CLINVAR
dbSNP: rs104893633
rs104893633
Entrez Id: 1716;100874048
Gene Symbol: DGUOK;DGUOK-AS1
DGUOK;DGUOK-AS1
CUI: C3151513
Disease:
MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE) 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1204316787
rs1204316787
Entrez Id: 1716
Gene Symbol: DGUOK
DGUOK
CUI: C3151513
Disease:
MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE) 		T 0.700 CausalMutation CLINVAR
dbSNP: rs536746349
rs536746349
Entrez Id: 1716
Gene Symbol: DGUOK
DGUOK
CUI: C4310733
Disease:
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 4 		G 0.700 CausalMutation CLINVAR
dbSNP: rs748597500
rs748597500
Entrez Id: 1716
Gene Symbol: DGUOK
DGUOK
CUI: C3151513
Disease:
MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE) 		A 0.700 CausalMutation CLINVAR
dbSNP: rs748597500
rs748597500
Entrez Id: 1716
Gene Symbol: DGUOK
DGUOK
CUI: C4310733
Disease:
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 4 		A 0.700 CausalMutation CLINVAR
dbSNP: rs748597500
rs748597500
Entrez Id: 1716
Gene Symbol: DGUOK
DGUOK
CUI: C4310735
Disease:
PORTAL HYPERTENSION, NONCIRRHOTIC 		A 0.700 CausalMutation CLINVAR
dbSNP: rs749464475
rs749464475
Entrez Id: 1716;100874048
Gene Symbol: DGUOK;DGUOK-AS1
DGUOK;DGUOK-AS1
CUI: C3151513
Disease:
MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE) 		C 0.700 CausalMutation CLINVAR
dbSNP: rs763615602
rs763615602
Entrez Id: 1716
Gene Symbol: DGUOK
DGUOK
CUI: C4310935
Disease:
MITOCHONDRIAL DNA DEPLETION SYNDROME 3 		G 0.700 CausalMutation CLINVAR