DGUOK, deoxyguanosine kinase, 1716

N. diseases: 112; N. variants: 19
Disease: PORTAL HYPERTENSION, NONCIRRHOTIC ×
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: 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: rs763615602
rs763615602
Entrez Id: 1716
Gene Symbol: DGUOK
DGUOK
CUI: C4310735
Disease:
PORTAL HYPERTENSION, NONCIRRHOTIC 		G 0.800 CausalMutation CLINVAR
dbSNP: rs748597500
rs748597500
Entrez Id: 1716
Gene Symbol: DGUOK
DGUOK
CUI: C4310735
Disease:
PORTAL HYPERTENSION, NONCIRRHOTIC 		A 0.700 CausalMutation CLINVAR