DGUOK, deoxyguanosine kinase, 1716

N. diseases: 112; N. variants: 19
Disease: Cystathioninuria ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0220993
Disease: Cystathioninuria
Cystathioninuria 		0.010 GeneticVariation phenotype BEFREE Each affected child was homozygous for the novel DGUOK p.D255Y mutation, but had no CTH mutation, indicating that the hepatocerebral form of MDS might be associated with secondary cystathioninuria. 15887277 2005