DGUOK, deoxyguanosine kinase, 1716

N. diseases: 112; N. variants: 19
Disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE) ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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: 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: 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: 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: rs763706988
rs763706988
Entrez Id: 1716;100874048
Gene Symbol: DGUOK;DGUOK-AS1
DGUOK;DGUOK-AS1
CUI: C3151513
Disease:
MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE) 		ATGAT 0.700 CausalMutation CLINVAR
dbSNP: rs863223949
rs863223949
Entrez Id: 1716
Gene Symbol: DGUOK
DGUOK
CUI: C3151513
Disease:
MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE) 		A 0.700 CausalMutation CLINVAR
dbSNP: rs886037613
rs886037613
Entrez Id: 1716
Gene Symbol: DGUOK
DGUOK
CUI: C3151513
Disease:
MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE) 		C 0.700 CausalMutation CLINVAR
dbSNP: rs886037615
rs886037615
Entrez Id: 1716
Gene Symbol: DGUOK
DGUOK
CUI: C3151513
Disease:
MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE) 		C 0.700 CausalMutation CLINVAR