Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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: 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: 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: C4310735
Disease: PORTAL HYPERTENSION, NONCIRRHOTIC
PORTAL HYPERTENSION, NONCIRRHOTIC
0.700 CausalMutation disease CLINVAR