DGUOK, deoxyguanosine kinase, 1716

N. diseases: 112; N. variants: 19
Disease: Encephalopathies ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0085584
Disease: Encephalopathies
Encephalopathies 		0.110 GeneticVariation group BEFREE The phenotype was distinctive for each gene, with hepatic failure and encephalopathy associated with mutations in the deoxyguanosine kinase gene and isolated devastating myopathy as the sole manifestation of thymidine kinase 2 deficiency. 12110944 2002
CUI: C0085584
Disease: Encephalopathies
Encephalopathies 		0.110 Biomarker group HPO